3-195511004-CAAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511004
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511001
    reference: chr 3
allele count: 1
allele frequency: 4.155930512841825e-5
allele num: 24062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9831_83-9829delCTT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7444_7446delCTT
  hgvsp: ENSP00000418306.1:p.Leu2482del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7444_7446delCTT
  hgvsp: ENSP00000417757.1:p.Leu2482del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7444_7446delCTT
  hgvsp: ENSP00000419798.1:p.Leu2482del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7444_7446delCTT
  hgvsp: ENSP00000417397.1:p.Leu2482del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7444_7446delCTT
  hgvsp: ENSP00000417498.3:p.Leu2482del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7444_7446delCTT
  hgvsp: ENSP00000417722.1:p.Leu2482del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5681_83-5679delCTT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7444_7446delCTT
  hgvsp: ENSP00000420439.1:p.Leu2482del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7444_7446delCTT
  hgvsp: ENSP00000420243.1:p.Leu2482del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7444_7446delCTT
  hgvsp: ENSP00000419989.1:p.Leu2482del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7444_7446delCTT
  hgvsp: ENSP00000417657.1:p.Leu2482del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8125
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu2482del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: CAAG
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-195511005-AAGAAGAGGGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511005
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195510995
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 24086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Thr2479MetfsTer522
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Thr2479MetfsTer522
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Thr2479MetfsTer522
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Thr2479MetfsTer522
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Thr2479MetfsTer522
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Thr2479MetfsTer522
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Thr2479MetfsTer522
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Thr2479MetfsTer522
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Thr2479MetfsTer522
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Thr2479MetfsTer522
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24609
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2479MetfsTer522
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: AAGAAGAGGGG
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

3-195511006-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511006
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511006
    reference: chr 3
allele count: 6
allele frequency: 2.585538222873395e-4
allele num: 23206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7445T>C
  hgvsp: ENSP00000418306.1:p.Leu2482Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7445T>C
  hgvsp: ENSP00000417657.1:p.Leu2482Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7445T>C
  hgvsp: ENSP00000420439.1:p.Leu2482Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7445T>C
  hgvsp: ENSP00000417397.1:p.Leu2482Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7445T>C
  hgvsp: ENSP00000417498.3:p.Leu2482Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7445T>C
  hgvsp: ENSP00000417722.1:p.Leu2482Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7445T>C
  hgvsp: ENSP00000417757.1:p.Leu2482Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5680T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7445T>C
  hgvsp: ENSP00000419798.1:p.Leu2482Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9830T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7445T>C
  hgvsp: ENSP00000419989.1:p.Leu2482Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7445T>C
  hgvsp: ENSP00000420243.1:p.Leu2482Pro
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu2482Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

3-195511006-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511006
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511006
    reference: chr 3
allele count: 1
allele frequency: 4.309230371455658e-5
allele num: 23206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7445T>A
  hgvsp: ENSP00000420439.1:p.Leu2482His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7445T>A
  hgvsp: ENSP00000417722.1:p.Leu2482His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7445T>A
  hgvsp: ENSP00000417657.1:p.Leu2482His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7445T>A
  hgvsp: ENSP00000417498.3:p.Leu2482His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7445T>A
  hgvsp: ENSP00000417397.1:p.Leu2482His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7445T>A
  hgvsp: ENSP00000417757.1:p.Leu2482His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7445T>A
  hgvsp: ENSP00000419798.1:p.Leu2482His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7445T>A
  hgvsp: ENSP00000419989.1:p.Leu2482His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5680T>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9830T>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7445T>A
  hgvsp: ENSP00000418306.1:p.Leu2482His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7445T>A
  hgvsp: ENSP00000420243.1:p.Leu2482His
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 24156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu2482His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

3-195511006-AGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGCCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511006
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195510958
    reference: chr 3
allele count: 4
allele frequency: 1.723692148582263e-4
allele num: 23206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Pro2466_Leu2481del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Pro2466_Leu2481del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Pro2466_Leu2481del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Pro2466_Leu2481del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Pro2466_Leu2481del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Pro2466_Leu2481del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Pro2466_Leu2481del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Pro2466_Leu2481del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Pro2466_Leu2481del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Pro2466_Leu2481del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro2466_Leu2481del
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: AGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGCCAG
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-195511007-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511007
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511007
    reference: chr 3
allele count: 1
allele frequency: 4.146280786134837e-5
allele num: 24118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7444C>A
  hgvsp: ENSP00000417757.1:p.Leu2482Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7444C>A
  hgvsp: ENSP00000419989.1:p.Leu2482Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5681C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7444C>A
  hgvsp: ENSP00000417397.1:p.Leu2482Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7444C>A
  hgvsp: ENSP00000417498.3:p.Leu2482Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7444C>A
  hgvsp: ENSP00000420243.1:p.Leu2482Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7444C>A
  hgvsp: ENSP00000418306.1:p.Leu2482Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7444C>A
  hgvsp: ENSP00000420439.1:p.Leu2482Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7444C>A
  hgvsp: ENSP00000417722.1:p.Leu2482Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7444C>A
  hgvsp: ENSP00000419798.1:p.Leu2482Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9831C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7444C>A
  hgvsp: ENSP00000417657.1:p.Leu2482Ile
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu2482Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

3-195511008-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511008
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511008
    reference: chr 3
allele count: 1
allele frequency: 4.151444702756559e-5
allele num: 24088
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7443T>A
  hgvsp: ENST00000463781.3:c.7443T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7443T>A
  hgvsp: ENST00000475231.1:c.7443T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7443T>A
  hgvsp: ENST00000479406.1:c.7443T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7443T>A
  hgvsp: ENST00000478156.1:c.7443T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7443T>A
  hgvsp: ENST00000477086.1:c.7443T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5682T>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7443T>A
  hgvsp: ENST00000480843.1:c.7443T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7443T>A
  hgvsp: ENST00000470451.1:c.7443T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7443T>A
  hgvsp: ENST00000466475.1:c.7443T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7443T>A
  hgvsp: ENST00000462323.1:c.7443T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9832T>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7443T>A
  hgvsp: ENST00000477756.1:c.7443T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu2481Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

3-195511011-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511011
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511011
    reference: chr 3
allele count: 1
allele frequency: 4.142502071251036e-5
allele num: 24140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5685T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7440T>C
  hgvsp: ENST00000466475.1:c.7440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7440T>C
  hgvsp: ENST00000479406.1:c.7440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7440T>C
  hgvsp: ENST00000475231.1:c.7440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7440T>C
  hgvsp: ENST00000478156.1:c.7440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7440T>C
  hgvsp: ENST00000477086.1:c.7440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7440T>C
  hgvsp: ENST00000470451.1:c.7440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7440T>C
  hgvsp: ENST00000480843.1:c.7440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7440T>C
  hgvsp: ENST00000477756.1:c.7440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7440T>C
  hgvsp: ENST00000463781.3:c.7440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7440T>C
  hgvsp: ENST00000462323.1:c.7440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9835T>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro2480Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

3-195511012-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511012
    reference: chr 3
allele count: 1
allele frequency: 4.144218814753419e-5
allele num: 24130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7439C>G
  hgvsp: ENSP00000417757.1:p.Pro2480Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7439C>G
  hgvsp: ENSP00000419989.1:p.Pro2480Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7439C>G
  hgvsp: ENSP00000417722.1:p.Pro2480Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7439C>G
  hgvsp: ENSP00000420243.1:p.Pro2480Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7439C>G
  hgvsp: ENSP00000417397.1:p.Pro2480Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7439C>G
  hgvsp: ENSP00000420439.1:p.Pro2480Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7439C>G
  hgvsp: ENSP00000419798.1:p.Pro2480Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9836C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7439C>G
  hgvsp: ENSP00000417657.1:p.Pro2480Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7439C>G
  hgvsp: ENSP00000417498.3:p.Pro2480Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5686C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7439C>G
  hgvsp: ENSP00000418306.1:p.Pro2480Arg
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro2480Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

3-195511012-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511012
    reference: chr 3
allele count: 40
allele frequency: 1.657687525901368e-3
allele num: 24130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7439C>A
  hgvsp: ENSP00000418306.1:p.Pro2480His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7439C>A
  hgvsp: ENSP00000419989.1:p.Pro2480His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7439C>A
  hgvsp: ENSP00000419798.1:p.Pro2480His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9836C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7439C>A
  hgvsp: ENSP00000417722.1:p.Pro2480His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7439C>A
  hgvsp: ENSP00000417498.3:p.Pro2480His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7439C>A
  hgvsp: ENSP00000420243.1:p.Pro2480His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7439C>A
  hgvsp: ENSP00000417757.1:p.Pro2480His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7439C>A
  hgvsp: ENSP00000420439.1:p.Pro2480His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5686C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7439C>A
  hgvsp: ENSP00000417657.1:p.Pro2480His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7439C>A
  hgvsp: ENSP00000417397.1:p.Pro2480His
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24883
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro2480His
num of homozygotes: 1
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

3-195511016-TGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGCCAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511016
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195510978
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 24176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Pro2466HisfsTer15
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Pro2466HisfsTer15
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Pro2466HisfsTer15
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Pro2466HisfsTer15
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Pro2466HisfsTer15
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Pro2466HisfsTer15
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Pro2466HisfsTer15
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Pro2466HisfsTer15
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Pro2466HisfsTer15
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Pro2466HisfsTer15
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24747
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro2466HisfsTer15
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: TGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGCCAG
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

3-195511017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511017
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511017
    reference: chr 3
allele count: 3
allele frequency: 1.238338974655329e-4
allele num: 24226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7434C>T
  hgvsp: ENST00000475231.1:c.7434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7434C>T
  hgvsp: ENST00000466475.1:c.7434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7434C>T
  hgvsp: ENST00000477086.1:c.7434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7434C>T
  hgvsp: ENST00000480843.1:c.7434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7434C>T
  hgvsp: ENST00000462323.1:c.7434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7434C>T
  hgvsp: ENST00000477756.1:c.7434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7434C>T
  hgvsp: ENST00000478156.1:c.7434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7434C>T
  hgvsp: ENST00000463781.3:c.7434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5691C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7434C>T
  hgvsp: ENST00000470451.1:c.7434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7434C>T
  hgvsp: ENST00000479406.1:c.7434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9841C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24943
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2478Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

3-195511018-GTGTGACCTGTGGATACTGAGGAAGTGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511018
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195510991
    reference: chr 3
allele count: 195
allele frequency: 8.035272787209493e-3
allele num: 24268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 7.5e0
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 24909
  bin: 2.5e0
  variant carriers: 431
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
hgvs: p.Asp2469_Thr2478delinsAla
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: GTGTGACCTGTGGATACTGAGGAAGTGT
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-195511019-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511019
    reference: chr 3
allele count: 51
allele frequency: 2.430191556275612e-3
allele num: 20986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9843A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5693A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7432A>G
  hgvsp: ENSP00000420439.1:p.Thr2478Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7432A>G
  hgvsp: ENSP00000417498.3:p.Thr2478Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7432A>G
  hgvsp: ENSP00000417397.1:p.Thr2478Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7432A>G
  hgvsp: ENSP00000419989.1:p.Thr2478Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7432A>G
  hgvsp: ENSP00000419798.1:p.Thr2478Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7432A>G
  hgvsp: ENSP00000417757.1:p.Thr2478Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7432A>G
  hgvsp: ENSP00000417657.1:p.Thr2478Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7432A>G
  hgvsp: ENSP00000420243.1:p.Thr2478Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7432A>G
  hgvsp: ENSP00000417722.1:p.Thr2478Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7432A>G
  hgvsp: ENSP00000418306.1:p.Thr2478Ala
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23462
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Thr2478Ala
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-195511022-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511022
    reference: chr 3
allele count: 6
allele frequency: 2.50857095074839e-4
allele num: 23918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7429C>G
  hgvsp: ENSP00000420243.1:p.His2477Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7429C>G
  hgvsp: ENSP00000418306.1:p.His2477Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7429C>G
  hgvsp: ENSP00000417397.1:p.His2477Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5696C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7429C>G
  hgvsp: ENSP00000419989.1:p.His2477Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7429C>G
  hgvsp: ENSP00000417657.1:p.His2477Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7429C>G
  hgvsp: ENSP00000417498.3:p.His2477Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7429C>G
  hgvsp: ENSP00000417757.1:p.His2477Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7429C>G
  hgvsp: ENSP00000420439.1:p.His2477Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9846C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7429C>G
  hgvsp: ENSP00000417722.1:p.His2477Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7429C>G
  hgvsp: ENSP00000419798.1:p.His2477Asp
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24611
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His2477Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

3-195511022-GACCTGTGGATACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195510974
    reference: chr 3
allele count: 1
allele frequency: 4.180951584580651e-5
allele num: 23918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Asp2461_Gly2476del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Asp2461_Gly2476del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Asp2461_Gly2476del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Asp2461_Gly2476del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Asp2461_Gly2476del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Asp2461_Gly2476del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Asp2461_Gly2476del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Asp2461_Gly2476del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Asp2461_Gly2476del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Asp2461_Gly2476del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2461_Gly2476del
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: GACCTGTGGATACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTC
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-195511024-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511024
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511024
    reference: chr 3
allele count: 1
allele frequency: 4.168056018672891e-5
allele num: 23992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7427G>T
  hgvsp: ENSP00000417397.1:p.Gly2476Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7427G>T
  hgvsp: ENSP00000419798.1:p.Gly2476Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9848G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7427G>T
  hgvsp: ENSP00000417757.1:p.Gly2476Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7427G>T
  hgvsp: ENSP00000420439.1:p.Gly2476Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7427G>T
  hgvsp: ENSP00000417498.3:p.Gly2476Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7427G>T
  hgvsp: ENSP00000418306.1:p.Gly2476Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7427G>T
  hgvsp: ENSP00000417657.1:p.Gly2476Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7427G>T
  hgvsp: ENSP00000417722.1:p.Gly2476Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7427G>T
  hgvsp: ENSP00000419989.1:p.Gly2476Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5698G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7427G>T
  hgvsp: ENSP00000420243.1:p.Gly2476Val
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2476Val
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

3-195511025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511025
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511025
    reference: chr 3
allele count: 2
allele frequency: 8.341675008341675e-5
allele num: 23976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7426G>A
  hgvsp: ENSP00000417722.1:p.Gly2476Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7426G>A
  hgvsp: ENSP00000417757.1:p.Gly2476Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9849G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7426G>A
  hgvsp: ENSP00000417498.3:p.Gly2476Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7426G>A
  hgvsp: ENSP00000419989.1:p.Gly2476Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7426G>A
  hgvsp: ENSP00000418306.1:p.Gly2476Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7426G>A
  hgvsp: ENSP00000417397.1:p.Gly2476Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7426G>A
  hgvsp: ENSP00000420439.1:p.Gly2476Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7426G>A
  hgvsp: ENSP00000420243.1:p.Gly2476Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7426G>A
  hgvsp: ENSP00000417657.1:p.Gly2476Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7426G>A
  hgvsp: ENSP00000419798.1:p.Gly2476Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5699G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2476Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

3-195511026-TGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511026
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511023
    reference: chr 3
allele count: 1
allele frequency: 4.164237528108603e-5
allele num: 24014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7422_7424delCAC
  hgvsp: ENSP00000417757.1:p.Thr2475del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7422_7424delCAC
  hgvsp: ENSP00000420243.1:p.Thr2475del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7422_7424delCAC
  hgvsp: ENSP00000417657.1:p.Thr2475del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7422_7424delCAC
  hgvsp: ENSP00000419989.1:p.Thr2475del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7422_7424delCAC
  hgvsp: ENSP00000420439.1:p.Thr2475del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9853_83-9851delCAC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7422_7424delCAC
  hgvsp: ENSP00000418306.1:p.Thr2475del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7422_7424delCAC
  hgvsp: ENSP00000417722.1:p.Thr2475del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7422_7424delCAC
  hgvsp: ENSP00000419798.1:p.Thr2475del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5703_83-5701delCAC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7422_7424delCAC
  hgvsp: ENSP00000417397.1:p.Thr2475del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7422_7424delCAC
  hgvsp: ENSP00000417498.3:p.Thr2475del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2475del
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: TGTG
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

3-195511028-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511028
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511028
    reference: chr 3
allele count: 42
allele frequency: 1.757469244288225e-3
allele num: 23898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7423A>T
  hgvsp: ENSP00000417722.1:p.Thr2475Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7423A>T
  hgvsp: ENSP00000418306.1:p.Thr2475Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9852A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7423A>T
  hgvsp: ENSP00000419798.1:p.Thr2475Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7423A>T
  hgvsp: ENSP00000419989.1:p.Thr2475Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7423A>T
  hgvsp: ENSP00000417498.3:p.Thr2475Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7423A>T
  hgvsp: ENSP00000417757.1:p.Thr2475Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5702A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7423A>T
  hgvsp: ENSP00000420439.1:p.Thr2475Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7423A>T
  hgvsp: ENSP00000417397.1:p.Thr2475Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7423A>T
  hgvsp: ENSP00000420243.1:p.Thr2475Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7423A>T
  hgvsp: ENSP00000417657.1:p.Thr2475Ser
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Thr2475Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

3-195511028-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511028
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511028
    reference: chr 3
allele count: 1
allele frequency: 4.184450581638631e-5
allele num: 23898
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7423A>G
  hgvsp: ENSP00000417498.3:p.Thr2475Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7423A>G
  hgvsp: ENSP00000420439.1:p.Thr2475Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7423A>G
  hgvsp: ENSP00000417397.1:p.Thr2475Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7423A>G
  hgvsp: ENSP00000419989.1:p.Thr2475Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7423A>G
  hgvsp: ENSP00000417722.1:p.Thr2475Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7423A>G
  hgvsp: ENSP00000418306.1:p.Thr2475Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5702A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7423A>G
  hgvsp: ENSP00000417757.1:p.Thr2475Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9852A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7423A>G
  hgvsp: ENSP00000417657.1:p.Thr2475Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7423A>G
  hgvsp: ENSP00000420243.1:p.Thr2475Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7423A>G
  hgvsp: ENSP00000419798.1:p.Thr2475Ala
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2475Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

3-195511029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511029
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511029
    reference: chr 3
allele count: 1
allele frequency: 4.16181122024305e-5
allele num: 24028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7422C>T
  hgvsp: ENST00000462323.1:c.7422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7422C>T
  hgvsp: ENST00000470451.1:c.7422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9853C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7422C>T
  hgvsp: ENST00000477086.1:c.7422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7422C>T
  hgvsp: ENST00000479406.1:c.7422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7422C>T
  hgvsp: ENST00000463781.3:c.7422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7422C>T
  hgvsp: ENST00000480843.1:c.7422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7422C>T
  hgvsp: ENST00000478156.1:c.7422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7422C>T
  hgvsp: ENST00000466475.1:c.7422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7422C>T
  hgvsp: ENST00000477756.1:c.7422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7422C>T
  hgvsp: ENST00000475231.1:c.7422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5703C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser2474Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-195511030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511030
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511030
    reference: chr 3
allele count: 2
allele frequency: 8.312551953449709e-5
allele num: 24060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7421C>T
  hgvsp: ENSP00000417498.3:p.Ser2474Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7421C>T
  hgvsp: ENSP00000417397.1:p.Ser2474Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7421C>T
  hgvsp: ENSP00000417657.1:p.Ser2474Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5704C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7421C>T
  hgvsp: ENSP00000417722.1:p.Ser2474Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9854C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7421C>T
  hgvsp: ENSP00000419989.1:p.Ser2474Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7421C>T
  hgvsp: ENSP00000418306.1:p.Ser2474Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7421C>T
  hgvsp: ENSP00000417757.1:p.Ser2474Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7421C>T
  hgvsp: ENSP00000420439.1:p.Ser2474Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7421C>T
  hgvsp: ENSP00000419798.1:p.Ser2474Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7421C>T
  hgvsp: ENSP00000420243.1:p.Ser2474Phe
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser2474Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

3-195511031-ATACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511031
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195510986
    reference: chr 3
allele count: 2
allele frequency: 8.315316813570597e-5
allele num: 24052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Thr2459_Val2473del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Thr2459_Val2473del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Thr2459_Val2473del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Thr2459_Val2473del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Thr2459_Val2473del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Thr2459_Val2473del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Thr2459_Val2473del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Thr2459_Val2473del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Thr2459_Val2473del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Thr2459_Val2473del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8158
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2459_Val2473del
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: ATACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGT
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

3-195511032-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511032
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511032
    reference: chr 3
allele count: 8
allele frequency: 3.38409475465313e-4
allele num: 23640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7419A>G
  hgvsp: ENST00000477756.1:c.7419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7419A>G
  hgvsp: ENST00000466475.1:c.7419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7419A>G
  hgvsp: ENST00000475231.1:c.7419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7419A>G
  hgvsp: ENST00000478156.1:c.7419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7419A>G
  hgvsp: ENST00000477086.1:c.7419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5706A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7419A>G
  hgvsp: ENST00000462323.1:c.7419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7419A>G
  hgvsp: ENST00000463781.3:c.7419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7419A>G
  hgvsp: ENST00000470451.1:c.7419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9856A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7419A>G
  hgvsp: ENST00000480843.1:c.7419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7419A>G
  hgvsp: ENST00000479406.1:c.7419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2473Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

3-195511033-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511033
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511033
    reference: chr 3
allele count: 46
allele frequency: 2.053754799535673e-3
allele num: 22398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7418T>C
  hgvsp: ENSP00000417722.1:p.Val2473Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7418T>C
  hgvsp: ENSP00000417498.3:p.Val2473Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7418T>C
  hgvsp: ENSP00000417397.1:p.Val2473Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7418T>C
  hgvsp: ENSP00000418306.1:p.Val2473Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7418T>C
  hgvsp: ENSP00000419989.1:p.Val2473Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5707T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7418T>C
  hgvsp: ENSP00000419798.1:p.Val2473Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7418T>C
  hgvsp: ENSP00000420439.1:p.Val2473Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7418T>C
  hgvsp: ENSP00000417657.1:p.Val2473Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9857T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7418T>C
  hgvsp: ENSP00000420243.1:p.Val2473Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7418T>C
  hgvsp: ENSP00000417757.1:p.Val2473Ala
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23991
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2473Ala
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-195511033-ACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511033
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195510985
    reference: chr 3
allele count: 4
allele frequency: 1.785873738726672e-4
allele num: 22398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Ala2457_Ser2472del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Ala2457_Ser2472del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Ala2457_Ser2472del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Ala2457_Ser2472del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Ala2457_Ser2472del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Ala2457_Ser2472del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Ala2457_Ser2472del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Ala2457_Ser2472del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Ala2457_Ser2472del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Ala2457_Ser2472del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala2457_Ser2472del
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: ACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATG
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/3-195511037-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511037
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511037
    reference: chr 3
allele count: 16
allele frequency: 6.637902422834385e-4
allele num: 24104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7414T>G
  hgvsp: ENSP00000418306.1:p.Ser2472Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7414T>G
  hgvsp: ENSP00000417757.1:p.Ser2472Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7414T>G
  hgvsp: ENSP00000417657.1:p.Ser2472Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7414T>G
  hgvsp: ENSP00000417498.3:p.Ser2472Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7414T>G
  hgvsp: ENSP00000417397.1:p.Ser2472Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7414T>G
  hgvsp: ENSP00000417722.1:p.Ser2472Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7414T>G
  hgvsp: ENSP00000420243.1:p.Ser2472Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7414T>G
  hgvsp: ENSP00000419798.1:p.Ser2472Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7414T>G
  hgvsp: ENSP00000419989.1:p.Ser2472Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7414T>G
  hgvsp: ENSP00000420439.1:p.Ser2472Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5711T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9861T>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser2472Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

3-195511037-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511037
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511036
    reference: chr 3
allele count: 1
allele frequency: 4.14868901427149e-5
allele num: 24104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5712delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7413delC
  hgvsp: ENSP00000420243.1:p.Ser2472GlnfsTer532
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7413delC
  hgvsp: ENSP00000417397.1:p.Ser2472GlnfsTer532
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7413delC
  hgvsp: ENSP00000419989.1:p.Ser2472GlnfsTer532
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7413delC
  hgvsp: ENSP00000417722.1:p.Ser2472GlnfsTer532
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7413delC
  hgvsp: ENSP00000417657.1:p.Ser2472GlnfsTer532
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9862delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7413delC
  hgvsp: ENSP00000417498.3:p.Ser2472GlnfsTer532
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7413delC
  hgvsp: ENSP00000418306.1:p.Ser2472GlnfsTer532
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7413delC
  hgvsp: ENSP00000417757.1:p.Ser2472GlnfsTer532
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7413delC
  hgvsp: ENSP00000419798.1:p.Ser2472GlnfsTer532
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7413delC
  hgvsp: ENSP00000420439.1:p.Ser2472GlnfsTer532
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser2472GlnfsTer532
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: AG
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

3-195511039-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511039
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511039
    reference: chr 3
allele count: 1
allele frequency: 4.155930512841825e-5
allele num: 24062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7412C>A
  hgvsp: ENSP00000419989.1:p.Ser2471Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9863C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7412C>A
  hgvsp: ENSP00000417498.3:p.Ser2471Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7412C>A
  hgvsp: ENSP00000420243.1:p.Ser2471Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7412C>A
  hgvsp: ENSP00000417657.1:p.Ser2471Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7412C>A
  hgvsp: ENSP00000418306.1:p.Ser2471Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7412C>A
  hgvsp: ENSP00000417757.1:p.Ser2471Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7412C>A
  hgvsp: ENSP00000420439.1:p.Ser2471Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7412C>A
  hgvsp: ENSP00000419798.1:p.Ser2471Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7412C>A
  hgvsp: ENSP00000417397.1:p.Ser2471Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7412C>A
  hgvsp: ENSP00000417722.1:p.Ser2471Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5713C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser2471Tyr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-195511042-GTGTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511042
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511038
    reference: chr 3
allele count: 25
allele frequency: 1.059950818282032e-3
allele num: 23586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5720_83-5717delGACA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7405_7408delGACA
  hgvsp: ENSP00000417722.1:p.Asp2469LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7405_7408delGACA
  hgvsp: ENSP00000420439.1:p.Asp2469LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7405_7408delGACA
  hgvsp: ENSP00000417757.1:p.Asp2469LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7405_7408delGACA
  hgvsp: ENSP00000419798.1:p.Asp2469LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7405_7408delGACA
  hgvsp: ENSP00000420243.1:p.Asp2469LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7405_7408delGACA
  hgvsp: ENSP00000418306.1:p.Asp2469LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7405_7408delGACA
  hgvsp: ENSP00000417397.1:p.Asp2469LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7405_7408delGACA
  hgvsp: ENSP00000417498.3:p.Asp2469LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7405_7408delGACA
  hgvsp: ENSP00000417657.1:p.Asp2469LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9870_83-9867delGACA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7405_7408delGACA
  hgvsp: ENSP00000419989.1:p.Asp2469LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
hgvs: p.Asp2469LeufsTer534
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: GTGTC
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

3-195511042-G-GGGCTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511042
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511048
    reference: chr 3
allele count: 1
allele frequency: 4.239803273128127e-5
allele num: 23586
alternate allele: GGGCTGC
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7408_7409insGCAGCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7408_7409insGCAGCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7408_7409insGCAGCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7408_7409insGCAGCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7408_7409insGCAGCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7408_7409insGCAGCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7408_7409insGCAGCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7408_7409insGCAGCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7408_7409insGCAGCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7408_7409insGCAGCC
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: protein altering
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2470delinsSerSerPro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-195511042-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511042
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511041
    reference: chr 3
allele count: 1
allele frequency: 4.239803273128127e-5
allele num: 23586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7408delA
  hgvsp: ENSP00000417657.1:p.Thr2470LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7408delA
  hgvsp: ENSP00000420243.1:p.Thr2470LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7408delA
  hgvsp: ENSP00000417722.1:p.Thr2470LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7408delA
  hgvsp: ENSP00000418306.1:p.Thr2470LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7408delA
  hgvsp: ENSP00000419989.1:p.Thr2470LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7408delA
  hgvsp: ENSP00000417397.1:p.Thr2470LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7408delA
  hgvsp: ENSP00000420439.1:p.Thr2470LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9867delA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7408delA
  hgvsp: ENSP00000417498.3:p.Thr2470LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7408delA
  hgvsp: ENSP00000417757.1:p.Thr2470LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5717delA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7408delA
  hgvsp: ENSP00000419798.1:p.Thr2470LeufsTer534
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2470LeufsTer534
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: GT
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-195511043-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511043
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511043
    reference: chr 3
allele count: 1590
allele frequency: 7.610568638713383e-2
allele num: 20892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7408A>G
  hgvsp: ENSP00000417722.1:p.Thr2470Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7408A>G
  hgvsp: ENSP00000417757.1:p.Thr2470Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7408A>G
  hgvsp: ENSP00000419798.1:p.Thr2470Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7408A>G
  hgvsp: ENSP00000417657.1:p.Thr2470Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9867A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5717A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7408A>G
  hgvsp: ENSP00000417397.1:p.Thr2470Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7408A>G
  hgvsp: ENSP00000417498.3:p.Thr2470Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7408A>G
  hgvsp: ENSP00000419989.1:p.Thr2470Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7408A>G
  hgvsp: ENSP00000420439.1:p.Thr2470Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7408A>G
  hgvsp: ENSP00000420243.1:p.Thr2470Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7408A>G
  hgvsp: ENSP00000418306.1:p.Thr2470Ala
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 7.5e0
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 22991
  bin: 2.5e0
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
hgvs: p.Thr2470Ala
num of homozygotes: 67
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

3-195511043-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511043
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511043
    reference: chr 3
allele count: 3
allele frequency: 1.435956346927053e-4
allele num: 20892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7408A>C
  hgvsp: ENSP00000419989.1:p.Thr2470Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7408A>C
  hgvsp: ENSP00000420439.1:p.Thr2470Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7408A>C
  hgvsp: ENSP00000417498.3:p.Thr2470Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7408A>C
  hgvsp: ENSP00000417757.1:p.Thr2470Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7408A>C
  hgvsp: ENSP00000419798.1:p.Thr2470Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5717A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7408A>C
  hgvsp: ENSP00000417657.1:p.Thr2470Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7408A>C
  hgvsp: ENSP00000417722.1:p.Thr2470Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7408A>C
  hgvsp: ENSP00000417397.1:p.Thr2470Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9867A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7408A>C
  hgvsp: ENSP00000420243.1:p.Thr2470Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7408A>C
  hgvsp: ENSP00000418306.1:p.Thr2470Pro
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2470Pro
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

3-195511044-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511044
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511044
    reference: chr 3
allele count: 7
allele frequency: 2.928135196185058e-4
allele num: 23906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9868C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7407C>A
  hgvsp: ENSP00000419989.1:p.Asp2469Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7407C>A
  hgvsp: ENSP00000420243.1:p.Asp2469Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7407C>A
  hgvsp: ENSP00000420439.1:p.Asp2469Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7407C>A
  hgvsp: ENSP00000417498.3:p.Asp2469Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7407C>A
  hgvsp: ENSP00000417722.1:p.Asp2469Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7407C>A
  hgvsp: ENSP00000418306.1:p.Asp2469Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7407C>A
  hgvsp: ENSP00000417397.1:p.Asp2469Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5718C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7407C>A
  hgvsp: ENSP00000417757.1:p.Asp2469Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7407C>A
  hgvsp: ENSP00000419798.1:p.Asp2469Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7407C>A
  hgvsp: ENSP00000417657.1:p.Asp2469Glu
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8130
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2469Glu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

3-195511045-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511045
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511045
    reference: chr 3
allele count: 4
allele frequency: 1.678838243935197e-4
allele num: 23826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7406A>G
  hgvsp: ENSP00000420243.1:p.Asp2469Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7406A>G
  hgvsp: ENSP00000417397.1:p.Asp2469Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7406A>G
  hgvsp: ENSP00000417498.3:p.Asp2469Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7406A>G
  hgvsp: ENSP00000419798.1:p.Asp2469Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7406A>G
  hgvsp: ENSP00000419989.1:p.Asp2469Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7406A>G
  hgvsp: ENSP00000418306.1:p.Asp2469Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5719A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7406A>G
  hgvsp: ENSP00000417722.1:p.Asp2469Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7406A>G
  hgvsp: ENSP00000417657.1:p.Asp2469Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7406A>G
  hgvsp: ENSP00000420439.1:p.Asp2469Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9869A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7406A>G
  hgvsp: ENSP00000417757.1:p.Asp2469Gly
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2469Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ

3-195511045-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511045
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511045
    reference: chr 3
allele count: 17
allele frequency: 7.135062536724586e-4
allele num: 23826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7406A>C
  hgvsp: ENSP00000420439.1:p.Asp2469Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7406A>C
  hgvsp: ENSP00000419989.1:p.Asp2469Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9869A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5719A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7406A>C
  hgvsp: ENSP00000417498.3:p.Asp2469Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7406A>C
  hgvsp: ENSP00000417657.1:p.Asp2469Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7406A>C
  hgvsp: ENSP00000417757.1:p.Asp2469Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7406A>C
  hgvsp: ENSP00000417722.1:p.Asp2469Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7406A>C
  hgvsp: ENSP00000417397.1:p.Asp2469Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7406A>C
  hgvsp: ENSP00000419798.1:p.Asp2469Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7406A>C
  hgvsp: ENSP00000420243.1:p.Asp2469Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7406A>C
  hgvsp: ENSP00000418306.1:p.Asp2469Ala
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2469Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-195511046-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511046
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511046
    reference: chr 3
allele count: 12
allele frequency: 5.132152938157557e-4
allele num: 23382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7405G>C
  hgvsp: ENSP00000420439.1:p.Asp2469His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7405G>C
  hgvsp: ENSP00000417657.1:p.Asp2469His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7405G>C
  hgvsp: ENSP00000417498.3:p.Asp2469His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7405G>C
  hgvsp: ENSP00000419798.1:p.Asp2469His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7405G>C
  hgvsp: ENSP00000417722.1:p.Asp2469His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7405G>C
  hgvsp: ENSP00000417757.1:p.Asp2469His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5720G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7405G>C
  hgvsp: ENSP00000419989.1:p.Asp2469His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7405G>C
  hgvsp: ENSP00000420243.1:p.Asp2469His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7405G>C
  hgvsp: ENSP00000417397.1:p.Asp2469His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7405G>C
  hgvsp: ENSP00000418306.1:p.Asp2469His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9870G>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24395
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2469His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-195511046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511046
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511046
    reference: chr 3
allele count: 7
allele frequency: 2.993755880591908e-4
allele num: 23382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7405G>A
  hgvsp: ENSP00000417722.1:p.Asp2469Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7405G>A
  hgvsp: ENSP00000419989.1:p.Asp2469Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7405G>A
  hgvsp: ENSP00000417397.1:p.Asp2469Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7405G>A
  hgvsp: ENSP00000420243.1:p.Asp2469Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7405G>A
  hgvsp: ENSP00000420439.1:p.Asp2469Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7405G>A
  hgvsp: ENSP00000417657.1:p.Asp2469Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7405G>A
  hgvsp: ENSP00000417498.3:p.Asp2469Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7405G>A
  hgvsp: ENSP00000418306.1:p.Asp2469Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7405G>A
  hgvsp: ENSP00000417757.1:p.Asp2469Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7405G>A
  hgvsp: ENSP00000419798.1:p.Asp2469Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5720G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9870G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2469Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-195511047-GGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511047
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195510978
    reference: chr 3
allele count: 540
allele frequency: 2.142517060784003e-2
allele num: 25204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Ala2446_Thr2468del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Ala2446_Thr2468del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Ala2446_Thr2468del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Ala2446_Thr2468del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Ala2446_Thr2468del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Ala2446_Thr2468del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Ala2446_Thr2468del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Ala2446_Thr2468del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Ala2446_Thr2468del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Ala2446_Thr2468del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 24819
  bin: 2.5e0
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 7.5e0
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.25e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 9.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Ala2446_Thr2468del
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: GGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCA
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

3-195511047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511047
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511047
    reference: chr 3
allele count: 1
allele frequency: 3.967624186637041e-5
allele num: 25204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7404C>T
  hgvsp: ENST00000477086.1:c.7404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7404C>T
  hgvsp: ENST00000470451.1:c.7404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5721C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7404C>T
  hgvsp: ENST00000477756.1:c.7404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7404C>T
  hgvsp: ENST00000479406.1:c.7404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7404C>T
  hgvsp: ENST00000463781.3:c.7404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7404C>T
  hgvsp: ENST00000475231.1:c.7404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7404C>T
  hgvsp: ENST00000478156.1:c.7404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7404C>T
  hgvsp: ENST00000462323.1:c.7404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7404C>T
  hgvsp: ENST00000466475.1:c.7404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7404C>T
  hgvsp: ENST00000480843.1:c.7404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9871C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2468Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

3-195511047-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511047
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511047
    reference: chr 3
allele count: 1
allele frequency: 3.967624186637041e-5
allele num: 25204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7404C>G
  hgvsp: ENST00000479406.1:c.7404C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7404C>G
  hgvsp: ENST00000470451.1:c.7404C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7404C>G
  hgvsp: ENST00000480843.1:c.7404C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7404C>G
  hgvsp: ENST00000466475.1:c.7404C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7404C>G
  hgvsp: ENST00000477086.1:c.7404C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5721C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7404C>G
  hgvsp: ENST00000462323.1:c.7404C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7404C>G
  hgvsp: ENST00000477756.1:c.7404C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7404C>G
  hgvsp: ENST00000478156.1:c.7404C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7404C>G
  hgvsp: ENST00000463781.3:c.7404C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9871C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7404C>G
  hgvsp: ENST00000475231.1:c.7404C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2468Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

3-195511047-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511047
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511047
    reference: chr 3
allele count: 1
allele frequency: 3.967624186637041e-5
allele num: 25204
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7404C>A
  hgvsp: ENST00000463781.3:c.7404C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9871C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7404C>A
  hgvsp: ENST00000462323.1:c.7404C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7404C>A
  hgvsp: ENST00000475231.1:c.7404C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5721C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7404C>A
  hgvsp: ENST00000470451.1:c.7404C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7404C>A
  hgvsp: ENST00000479406.1:c.7404C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7404C>A
  hgvsp: ENST00000477086.1:c.7404C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7404C>A
  hgvsp: ENST00000478156.1:c.7404C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7404C>A
  hgvsp: ENST00000480843.1:c.7404C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7404C>A
  hgvsp: ENST00000477756.1:c.7404C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7404C>A
  hgvsp: ENST00000466475.1:c.7404C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2468Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

3-195511048-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511048
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511049
    reference: chr 3
allele count: 25
allele frequency: 1.038378468184084e-3
allele num: 24076
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7402_7403insG
  hgvsp: ENSP00000417397.1:p.Thr2468SerfsTer26
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7402_7403insG
  hgvsp: ENSP00000419798.1:p.Thr2468SerfsTer26
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7402_7403insG
  hgvsp: ENSP00000417657.1:p.Thr2468SerfsTer26
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7402_7403insG
  hgvsp: ENSP00000417498.3:p.Thr2468SerfsTer26
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7402_7403insG
  hgvsp: ENSP00000417722.1:p.Thr2468SerfsTer26
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7402_7403insG
  hgvsp: ENSP00000419989.1:p.Thr2468SerfsTer26
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7402_7403insG
  hgvsp: ENSP00000417757.1:p.Thr2468SerfsTer26
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7402_7403insG
  hgvsp: ENSP00000420439.1:p.Thr2468SerfsTer26
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7402_7403insG
  hgvsp: ENSP00000420243.1:p.Thr2468SerfsTer26
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5723_83-5722insG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7402_7403insG
  hgvsp: ENSP00000418306.1:p.Thr2468SerfsTer26
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9873_83-9872insG
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2468SerfsTer26
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

3-195511049-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511049
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511049
    reference: chr 3
allele count: 3
allele frequency: 1.248855216051952e-4
allele num: 24022
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7402A>G
  hgvsp: ENSP00000417498.3:p.Thr2468Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7402A>G
  hgvsp: ENSP00000417397.1:p.Thr2468Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7402A>G
  hgvsp: ENSP00000420439.1:p.Thr2468Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9873A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7402A>G
  hgvsp: ENSP00000417657.1:p.Thr2468Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7402A>G
  hgvsp: ENSP00000418306.1:p.Thr2468Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7402A>G
  hgvsp: ENSP00000419989.1:p.Thr2468Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7402A>G
  hgvsp: ENSP00000420243.1:p.Thr2468Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5723A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7402A>G
  hgvsp: ENSP00000417722.1:p.Thr2468Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7402A>G
  hgvsp: ENSP00000417757.1:p.Thr2468Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7402A>G
  hgvsp: ENSP00000419798.1:p.Thr2468Ala
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24907
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2468Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-195511050-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511050
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511050
    reference: chr 3
allele count: 8
allele frequency: 3.320053120849933e-4
allele num: 24096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7401C>A
  hgvsp: ENST00000462323.1:c.7401C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7401C>A
  hgvsp: ENST00000478156.1:c.7401C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7401C>A
  hgvsp: ENST00000466475.1:c.7401C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7401C>A
  hgvsp: ENST00000480843.1:c.7401C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5724C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7401C>A
  hgvsp: ENST00000470451.1:c.7401C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9874C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7401C>A
  hgvsp: ENST00000477756.1:c.7401C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7401C>A
  hgvsp: ENST00000479406.1:c.7401C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7401C>A
  hgvsp: ENST00000477086.1:c.7401C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7401C>A
  hgvsp: ENST00000463781.3:c.7401C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7401C>A
  hgvsp: ENST00000475231.1:c.7401C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24895
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2467Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-195511051-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511051
    reference: chr 3
allele count: 20
allele frequency: 1.001602564102564e-3
allele num: 19968
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7400G>T
  hgvsp: ENSP00000417498.3:p.Gly2467Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7400G>T
  hgvsp: ENSP00000417657.1:p.Gly2467Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7400G>T
  hgvsp: ENSP00000418306.1:p.Gly2467Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5725G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7400G>T
  hgvsp: ENSP00000419798.1:p.Gly2467Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7400G>T
  hgvsp: ENSP00000417757.1:p.Gly2467Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7400G>T
  hgvsp: ENSP00000417397.1:p.Gly2467Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7400G>T
  hgvsp: ENSP00000420243.1:p.Gly2467Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7400G>T
  hgvsp: ENSP00000419989.1:p.Gly2467Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9875G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7400G>T
  hgvsp: ENSP00000420439.1:p.Gly2467Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7400G>T
  hgvsp: ENSP00000417722.1:p.Gly2467Val
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24328
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly2467Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-195511051-C-CTGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511054
    reference: chr 3
allele count: 25
allele frequency: 1.252003205128205e-3
allele num: 19968
alternate allele: CTGA
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7399_7400insTCA
  hgvsp: ENSP00000417498.3:p.Gly2467delinsValSer
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7399_7400insTCA
  hgvsp: ENSP00000420439.1:p.Gly2467delinsValSer
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7399_7400insTCA
  hgvsp: ENSP00000417722.1:p.Gly2467delinsValSer
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9876_83-9875insTCA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7399_7400insTCA
  hgvsp: ENSP00000417397.1:p.Gly2467delinsValSer
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7399_7400insTCA
  hgvsp: ENSP00000418306.1:p.Gly2467delinsValSer
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7399_7400insTCA
  hgvsp: ENSP00000417757.1:p.Gly2467delinsValSer
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7399_7400insTCA
  hgvsp: ENSP00000420243.1:p.Gly2467delinsValSer
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5726_83-5725insTCA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7399_7400insTCA
  hgvsp: ENSP00000417657.1:p.Gly2467delinsValSer
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7399_7400insTCA
  hgvsp: ENSP00000419989.1:p.Gly2467delinsValSer
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7399_7400insTCA
  hgvsp: ENSP00000419798.1:p.Gly2467delinsValSer
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: protein altering
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2467delinsValSer
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

3-195511051-CCAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511003
    reference: chr 3
allele count: 2
allele frequency: 1.001602564102564e-4
allele num: 19968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Val2451_Pro2466del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Val2451_Pro2466del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Val2451_Pro2466del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Val2451_Pro2466del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Val2451_Pro2466del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Val2451_Pro2466del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Val2451_Pro2466del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Val2451_Pro2466del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Val2451_Pro2466del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Val2451_Pro2466del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2451_Pro2466del
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: CCAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGA
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

3-195511052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511052
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511052
    reference: chr 3
allele count: 1
allele frequency: 4.134965266291763e-5
allele num: 24184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9876G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7399G>A
  hgvsp: ENSP00000420439.1:p.Gly2467Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7399G>A
  hgvsp: ENSP00000420243.1:p.Gly2467Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7399G>A
  hgvsp: ENSP00000417498.3:p.Gly2467Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7399G>A
  hgvsp: ENSP00000419989.1:p.Gly2467Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7399G>A
  hgvsp: ENSP00000417397.1:p.Gly2467Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7399G>A
  hgvsp: ENSP00000417657.1:p.Gly2467Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7399G>A
  hgvsp: ENSP00000419798.1:p.Gly2467Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7399G>A
  hgvsp: ENSP00000417757.1:p.Gly2467Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5726G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7399G>A
  hgvsp: ENSP00000417722.1:p.Gly2467Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7399G>A
  hgvsp: ENSP00000418306.1:p.Gly2467Ser
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2467Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-195511053-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511053
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511053
    reference: chr 3
allele count: 1
allele frequency: 4.135991397137894e-5
allele num: 24178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9877T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7398T>G
  hgvsp: ENST00000466475.1:c.7398T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7398T>G
  hgvsp: ENST00000480843.1:c.7398T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7398T>G
  hgvsp: ENST00000478156.1:c.7398T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5727T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7398T>G
  hgvsp: ENST00000462323.1:c.7398T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7398T>G
  hgvsp: ENST00000477756.1:c.7398T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7398T>G
  hgvsp: ENST00000477086.1:c.7398T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7398T>G
  hgvsp: ENST00000463781.3:c.7398T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7398T>G
  hgvsp: ENST00000470451.1:c.7398T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7398T>G
  hgvsp: ENST00000475231.1:c.7398T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7398T>G
  hgvsp: ENST00000479406.1:c.7398T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro2466Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

3-195511054-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511054
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511054
    reference: chr 3
allele count: 1
allele frequency: 4.160426027625229e-5
allele num: 24036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7397C>G
  hgvsp: ENSP00000420243.1:p.Pro2466Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7397C>G
  hgvsp: ENSP00000417397.1:p.Pro2466Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7397C>G
  hgvsp: ENSP00000417722.1:p.Pro2466Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7397C>G
  hgvsp: ENSP00000419989.1:p.Pro2466Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7397C>G
  hgvsp: ENSP00000417657.1:p.Pro2466Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5728C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7397C>G
  hgvsp: ENSP00000419798.1:p.Pro2466Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7397C>G
  hgvsp: ENSP00000417757.1:p.Pro2466Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7397C>G
  hgvsp: ENSP00000420439.1:p.Pro2466Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7397C>G
  hgvsp: ENSP00000418306.1:p.Pro2466Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7397C>G
  hgvsp: ENSP00000417498.3:p.Pro2466Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9878C>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro2466Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

3-195511057-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511057
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511057
    reference: chr 3
allele count: 1
allele frequency: 4.132572939912389e-5
allele num: 24198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7394T>C
  hgvsp: ENSP00000419798.1:p.Leu2465Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7394T>C
  hgvsp: ENSP00000420243.1:p.Leu2465Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9881T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7394T>C
  hgvsp: ENSP00000417757.1:p.Leu2465Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7394T>C
  hgvsp: ENSP00000417722.1:p.Leu2465Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5731T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7394T>C
  hgvsp: ENSP00000417498.3:p.Leu2465Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7394T>C
  hgvsp: ENSP00000419989.1:p.Leu2465Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7394T>C
  hgvsp: ENSP00000417657.1:p.Leu2465Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7394T>C
  hgvsp: ENSP00000418306.1:p.Leu2465Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7394T>C
  hgvsp: ENSP00000420439.1:p.Leu2465Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7394T>C
  hgvsp: ENSP00000417397.1:p.Leu2465Pro
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu2465Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-195511058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511058
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511058
    reference: chr 3
allele count: 12
allele frequency: 4.96031746031746e-4
allele num: 24192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7393C>T
  hgvsp: ENSP00000420439.1:p.Leu2465Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7393C>T
  hgvsp: ENSP00000417657.1:p.Leu2465Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7393C>T
  hgvsp: ENSP00000417397.1:p.Leu2465Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7393C>T
  hgvsp: ENSP00000419989.1:p.Leu2465Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5732C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7393C>T
  hgvsp: ENSP00000417757.1:p.Leu2465Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7393C>T
  hgvsp: ENSP00000418306.1:p.Leu2465Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7393C>T
  hgvsp: ENSP00000417498.3:p.Leu2465Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7393C>T
  hgvsp: ENSP00000420243.1:p.Leu2465Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7393C>T
  hgvsp: ENSP00000417722.1:p.Leu2465Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7393C>T
  hgvsp: ENSP00000419798.1:p.Leu2465Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9882C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu2465Phe
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

3-195511058-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511058
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511058
    reference: chr 3
allele count: 2
allele frequency: 8.267195767195767e-5
allele num: 24192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5732C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7393C>G
  hgvsp: ENSP00000419798.1:p.Leu2465Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7393C>G
  hgvsp: ENSP00000417657.1:p.Leu2465Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7393C>G
  hgvsp: ENSP00000420243.1:p.Leu2465Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7393C>G
  hgvsp: ENSP00000417498.3:p.Leu2465Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7393C>G
  hgvsp: ENSP00000417722.1:p.Leu2465Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7393C>G
  hgvsp: ENSP00000420439.1:p.Leu2465Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9882C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7393C>G
  hgvsp: ENSP00000417397.1:p.Leu2465Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7393C>G
  hgvsp: ENSP00000419989.1:p.Leu2465Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7393C>G
  hgvsp: ENSP00000418306.1:p.Leu2465Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7393C>G
  hgvsp: ENSP00000417757.1:p.Leu2465Val
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu2465Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

3-195511060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511060
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511060
    reference: chr 3
allele count: 3
allele frequency: 1.248855216051952e-4
allele num: 24022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7391C>T
  hgvsp: ENSP00000419989.1:p.Pro2464Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7391C>T
  hgvsp: ENSP00000419798.1:p.Pro2464Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7391C>T
  hgvsp: ENSP00000418306.1:p.Pro2464Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7391C>T
  hgvsp: ENSP00000417657.1:p.Pro2464Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7391C>T
  hgvsp: ENSP00000417498.3:p.Pro2464Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7391C>T
  hgvsp: ENSP00000417722.1:p.Pro2464Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9884C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7391C>T
  hgvsp: ENSP00000420243.1:p.Pro2464Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7391C>T
  hgvsp: ENSP00000417757.1:p.Pro2464Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7391C>T
  hgvsp: ENSP00000417397.1:p.Pro2464Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7391C>T
  hgvsp: ENSP00000420439.1:p.Pro2464Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5734C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro2464Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

3-195511063-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511063
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511063
    reference: chr 3
allele count: 6
allele frequency: 2.475451769948016e-4
allele num: 24238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5737C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7388C>T
  hgvsp: ENSP00000417757.1:p.Thr2463Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7388C>T
  hgvsp: ENSP00000417722.1:p.Thr2463Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7388C>T
  hgvsp: ENSP00000417657.1:p.Thr2463Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7388C>T
  hgvsp: ENSP00000418306.1:p.Thr2463Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7388C>T
  hgvsp: ENSP00000419798.1:p.Thr2463Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7388C>T
  hgvsp: ENSP00000420243.1:p.Thr2463Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7388C>T
  hgvsp: ENSP00000420439.1:p.Thr2463Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9887C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7388C>T
  hgvsp: ENSP00000419989.1:p.Thr2463Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7388C>T
  hgvsp: ENSP00000417498.3:p.Thr2463Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7388C>T
  hgvsp: ENSP00000417397.1:p.Thr2463Ile
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25888
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr2463Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

3-195511064-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511064
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511064
    reference: chr 3
allele count: 7
allele frequency: 2.898070712925395e-4
allele num: 24154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7387A>C
  hgvsp: ENSP00000420243.1:p.Thr2463Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5738A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7387A>C
  hgvsp: ENSP00000417657.1:p.Thr2463Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7387A>C
  hgvsp: ENSP00000419989.1:p.Thr2463Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7387A>C
  hgvsp: ENSP00000420439.1:p.Thr2463Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7387A>C
  hgvsp: ENSP00000417498.3:p.Thr2463Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7387A>C
  hgvsp: ENSP00000417397.1:p.Thr2463Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7387A>C
  hgvsp: ENSP00000417722.1:p.Thr2463Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9888A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7387A>C
  hgvsp: ENSP00000417757.1:p.Thr2463Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7387A>C
  hgvsp: ENSP00000419798.1:p.Thr2463Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7387A>C
  hgvsp: ENSP00000418306.1:p.Thr2463Pro
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25668
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2463Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-195511066-G-GCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511066
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511068
    reference: chr 3
allele count: 1
allele frequency: 4.116581590647127e-5
allele num: 24292
alternate allele: GCC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7384_7385insGG
  hgvsp: ENSP00000419989.1:p.Thr2462ArgfsTer543
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7384_7385insGG
  hgvsp: ENSP00000417722.1:p.Thr2462ArgfsTer543
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7384_7385insGG
  hgvsp: ENSP00000420243.1:p.Thr2462ArgfsTer543
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7384_7385insGG
  hgvsp: ENSP00000419798.1:p.Thr2462ArgfsTer543
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7384_7385insGG
  hgvsp: ENSP00000420439.1:p.Thr2462ArgfsTer543
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7384_7385insGG
  hgvsp: ENSP00000417498.3:p.Thr2462ArgfsTer543
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5741_83-5740insGG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7384_7385insGG
  hgvsp: ENSP00000418306.1:p.Thr2462ArgfsTer543
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7384_7385insGG
  hgvsp: ENSP00000417397.1:p.Thr2462ArgfsTer543
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7384_7385insGG
  hgvsp: ENSP00000417657.1:p.Thr2462ArgfsTer543
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7384_7385insGG
  hgvsp: ENSP00000417757.1:p.Thr2462ArgfsTer543
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9891_83-9890insGG
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2462ArgfsTer543
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-195511066-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511066
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511066
    reference: chr 3
allele count: 2
allele frequency: 8.233163181294254e-5
allele num: 24292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7385C>A
  hgvsp: ENSP00000417657.1:p.Thr2462Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7385C>A
  hgvsp: ENSP00000418306.1:p.Thr2462Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9890C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7385C>A
  hgvsp: ENSP00000419798.1:p.Thr2462Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7385C>A
  hgvsp: ENSP00000420243.1:p.Thr2462Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7385C>A
  hgvsp: ENSP00000419989.1:p.Thr2462Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5740C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7385C>A
  hgvsp: ENSP00000417757.1:p.Thr2462Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7385C>A
  hgvsp: ENSP00000417722.1:p.Thr2462Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7385C>A
  hgvsp: ENSP00000420439.1:p.Thr2462Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7385C>A
  hgvsp: ENSP00000417498.3:p.Thr2462Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7385C>A
  hgvsp: ENSP00000417397.1:p.Thr2462Asn
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25787
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2462Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-195511067-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511067
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511067
    reference: chr 3
allele count: 36
allele frequency: 1.491177201557452e-3
allele num: 24142
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7384A>G
  hgvsp: ENSP00000417498.3:p.Thr2462Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9891A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7384A>G
  hgvsp: ENSP00000417397.1:p.Thr2462Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7384A>G
  hgvsp: ENSP00000417722.1:p.Thr2462Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7384A>G
  hgvsp: ENSP00000419989.1:p.Thr2462Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7384A>G
  hgvsp: ENSP00000420439.1:p.Thr2462Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7384A>G
  hgvsp: ENSP00000417657.1:p.Thr2462Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7384A>G
  hgvsp: ENSP00000419798.1:p.Thr2462Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7384A>G
  hgvsp: ENSP00000418306.1:p.Thr2462Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7384A>G
  hgvsp: ENSP00000420243.1:p.Thr2462Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7384A>G
  hgvsp: ENSP00000417757.1:p.Thr2462Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5741A>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25785
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr2462Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

3-195511068-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511068
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511066
    reference: chr 3
allele count: 1
allele frequency: 4.104079454978248e-5
allele num: 24366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7381_7382delGA
  hgvsp: ENSP00000418306.1:p.Asp2461HisfsTer32
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7381_7382delGA
  hgvsp: ENSP00000417722.1:p.Asp2461HisfsTer32
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7381_7382delGA
  hgvsp: ENSP00000420243.1:p.Asp2461HisfsTer32
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7381_7382delGA
  hgvsp: ENSP00000417657.1:p.Asp2461HisfsTer32
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7381_7382delGA
  hgvsp: ENSP00000420439.1:p.Asp2461HisfsTer32
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7381_7382delGA
  hgvsp: ENSP00000419989.1:p.Asp2461HisfsTer32
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9894_83-9893delGA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7381_7382delGA
  hgvsp: ENSP00000417397.1:p.Asp2461HisfsTer32
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7381_7382delGA
  hgvsp: ENSP00000419798.1:p.Asp2461HisfsTer32
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7381_7382delGA
  hgvsp: ENSP00000417498.3:p.Asp2461HisfsTer32
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5744_83-5743delGA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7381_7382delGA
  hgvsp: ENSP00000417757.1:p.Asp2461HisfsTer32
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25880
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2461HisfsTer32
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: GTC
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

3-195511069-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511069
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511069
    reference: chr 3
allele count: 1
allele frequency: 4.098360655737705e-5
allele num: 24400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7382A>T
  hgvsp: ENSP00000417498.3:p.Asp2461Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7382A>T
  hgvsp: ENSP00000420439.1:p.Asp2461Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7382A>T
  hgvsp: ENSP00000417757.1:p.Asp2461Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9893A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7382A>T
  hgvsp: ENSP00000417657.1:p.Asp2461Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7382A>T
  hgvsp: ENSP00000418306.1:p.Asp2461Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7382A>T
  hgvsp: ENSP00000417397.1:p.Asp2461Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7382A>T
  hgvsp: ENSP00000417722.1:p.Asp2461Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7382A>T
  hgvsp: ENSP00000419989.1:p.Asp2461Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7382A>T
  hgvsp: ENSP00000419798.1:p.Asp2461Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5743A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7382A>T
  hgvsp: ENSP00000420243.1:p.Asp2461Val
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25959
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2461Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-195511070-C-CCCCTGTGGATAATGAGGAAGCATCGGTGACATGAAGAGCGGTGGCGTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511070
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511118
    reference: chr 3
allele count: 1
allele frequency: 4.993508439029262e-5
allele num: 20026
alternate allele: CCCCTGTGGATAATGAGGAAGCATCGGTGACATGAAGAGCGGTGGCGTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

3-195511070-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511070
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195511070
    reference: chr 3
allele count: 9
allele frequency: 4.494157595126336e-4
allele num: 20026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-5744G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.7381G>C
  hgvsp: ENSP00000417397.1:p.Asp2461His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.7381G>C
  hgvsp: ENSP00000418306.1:p.Asp2461His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.7381G>C
  hgvsp: ENSP00000419798.1:p.Asp2461His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.7381G>C
  hgvsp: ENSP00000420243.1:p.Asp2461His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.7381G>C
  hgvsp: ENSP00000417757.1:p.Asp2461His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-9894G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.7381G>C
  hgvsp: ENSP00000420439.1:p.Asp2461His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.7381G>C
  hgvsp: ENSP00000417657.1:p.Asp2461His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.7381G>C
  hgvsp: ENSP00000419989.1:p.Asp2461His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.7381G>C
  hgvsp: ENSP00000417498.3:p.Asp2461His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.7381G>C
  hgvsp: ENSP00000417722.1:p.Asp2461His
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp2461His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-195511070-CACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGACCTGTGGATGCCGAGGAAACGTTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCGGTGACAGGAAGATGGGTGGCGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195511070
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195510926
    reference: chr 3
allele count: 2
allele frequency: 9.987016878058524e-5
allele num: 20026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.His2413_Gly2460del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.His2413_Gly2460del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.His2413_Gly2460del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.His2413_Gly2460del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.His2413_Gly2460del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.His2413_Gly2460del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.His2413_Gly2460del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.His2413_Gly2460del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.His2413_Gly2460del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.His2413_Gly2460del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His2413_Gly2460del
num of homozygotes: 0
reference allele: CACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGACCTGTGGATGCCGAGGAAACGTTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCGGTGACAGGAAGATGGGTGGCGTG

GenotypeDepth
all individuals: 185
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22258
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 804
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8670
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.46431951542684e-5
allele num: 10566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 5.964e0

MQ
type: SiteQuality
SIO_000300: 5.681e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.145e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -1.565e-1

DP
type: SiteQuality
SIO_000300: 1.847022e6

QD
type: SiteQuality
SIO_000300: 8.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.26e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.402e0

GenotypeDepth
all individuals: 375
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 346
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2331
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8679
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22405
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.575e0

VQSLOD
type: SiteQuality
SIO_000300: -1.492e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 3.0e0

MQ
type: SiteQuality
SIO_000300: 5.595e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.19e-2

DP
type: SiteQuality
SIO_000300: 1.847357e6

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 8148
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 242
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21251
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3724
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8391
bin: 9.75e1
variant carriers: 5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.355013550135501e-3
allele num: 2214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.05761316872428e-3
allele num: 486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.103752759381898e-3
allele num: 1812
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.493e0

MQ
type: SiteQuality
SIO_000300: 5.209e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.504e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.852168e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeDepth
all individuals: 168
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8391
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21251
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3724
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.278772378516624e-4
allele num: 7820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.493e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.504e-1

DP
type: SiteQuality
SIO_000300: 1.852168e6

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.209e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

QD
type: SiteQuality
SIO_000300: 1.36e0

GenotypeDepth
all individuals: 235
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21251
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8391
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

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

Latino
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Other
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East Asian
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European (Finnish)
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South Asian
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African
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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European (Finnish)
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East Asian
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South Asian
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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QD
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DP
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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VQSLOD
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ReadPosRankSum
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MQ
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DP
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FS
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MQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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South Asian
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VQSLOD
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ReadPosRankSum
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FS
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.300954032957502e-3
allele num: 2306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10668
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

FS
type: SiteQuality
SIO_000300: 2.936e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.669e0

QD
type: SiteQuality
SIO_000300: 4.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.24e-2

DP
type: SiteQuality
SIO_000300: 1.855718e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

MQ
type: SiteQuality
SIO_000300: 5.031e1

VQSLOD
type: SiteQuality
SIO_000300: -5.564e-1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 25

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 27

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 577

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 5
allele frequency: 2.717391304347826e-3
allele num: 1840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 160
allele frequency: 1.492815823847733e-2
allele num: 10718
num of homozygotes: 0

African
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allele count: 23
allele frequency: 9.982638888888888e-3
allele num: 2304
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.846153846153846e-3
allele num: 260
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 5.905511811023622e-3
allele num: 508
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.329787234042553e-3
allele num: 752
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.53613999492772e-4
allele num: 7886
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
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SIO_000300: -7.36e-1

MQ
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SIO_000300: 5.177e1

FS
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SIO_000300: 3.9125e1

VQSLOD
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SIO_000300: -1.443e0

InbreedingCoeff
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SIO_000300: -7.02e-2

QD
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
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SIO_000300: 1.858187e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 211
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 2.972107910379515e-3
allele num: 8748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 2.48015873015873e-3
allele num: 2016
num of homozygotes: 1

South Asian
type: Population
allele count: 10
allele frequency: 1.399776035834266e-3
allele num: 7144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 5.861664712778429e-3
allele num: 1706
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

BaseQRankSum
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SIO_000300: 7.31e-1

MQ
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SIO_000300: 5.495e1

VQSLOD
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SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.246e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.969999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.163e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 1.864042e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 344
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GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.587727708533077e-5
allele num: 10430
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.341958396752917e-4
allele num: 7884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2246
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.862342e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.32e-2

MQ
type: SiteQuality
SIO_000300: 5.485e1

ClippingRankSum
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SIO_000300: -4.85e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 8.23e-1

MQRankSum
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BaseQRankSum
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SIO_000300: 4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.142e-1

QD
type: SiteQuality
SIO_000300: 1.41e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.268391679350583e-4
allele num: 7884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10430
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

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

QD
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DP
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.32e-2

ClippingRankSum
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SIO_000300: -4.85e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 1
allele frequency: 1.319261213720317e-3
allele num: 758
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10468
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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QD
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SIO_000300: 5.65e0

ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 1
allele frequency: 4.385964912280702e-4
allele num: 2280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.571209800918837e-5
allele num: 10448
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
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Other
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

African
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allele frequency: 4.385964912280702e-4
allele num: 2280
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10484
num of homozygotes: 0

QD
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 41
allele frequency: 1.861943687556767e-2
allele num: 2202
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10442
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 1.968503937007874e-3
allele num: 508
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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MQRankSum
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FS
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 9.57670944263551e-5
allele num: 10442
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.63e-1

BaseQRankSum
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FS
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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SIO_000300: 5.425e1

VQSLOD
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DP
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SIO_000300: 1.8666e6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1818
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 9.523809523809524e-5
allele num: 10500
num of homozygotes: 0

QD
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -6.3e-2

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10520
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 2.534854245880862e-4
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African
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
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allele num: 10500
num of homozygotes: 0

European (Finnish)
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African
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allele frequency: 8.771929824561404e-4
allele num: 2280
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Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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allele num: 2236
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Latino
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European (Non-Finnish)
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allele count: 6
allele frequency: 5.888125613346418e-4
allele num: 10190
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European (Finnish)
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allele count: 1
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allele num: 1810
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Other
type: Population
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allele frequency: 0.0e0
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MQRankSum
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MQ
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SIO_000300: 5.157e1

ClippingRankSum
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SIO_000300: 3.58e-1

InbreedingCoeff
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SIO_000300: -6.54e-2

BaseQRankSum
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DP
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SIO_000300: 1.869418e6

FS
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SIO_000300: 2.3157e1

ReadPosRankSum
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SIO_000300: -2.99e-1

QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

South Asian
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allele frequency: 3.968253968253968e-4
allele num: 7560
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

African
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allele count: 42
allele frequency: 2.009569377990431e-2
allele num: 2090
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.051082615093546e-4
allele num: 9514
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -1.769e0

VQSLOD
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MQ
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QD
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FS
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DP
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ClippingRankSum
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SIO_000300: -9.74e-1

BaseQRankSum
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SIO_000300: 2.42e0

InbreedingCoeff
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SIO_000300: 1.545e-1

ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.102165230187093e-4
allele num: 9514
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 2.109704641350211e-3
allele num: 474
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2090
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Other
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.322751322751323e-4
allele num: 7560
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: -1.678e0

ClippingRankSum
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SIO_000300: -9.74e-1

MQ
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SIO_000300: 5.48e1

InbreedingCoeff
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SIO_000300: 1.545e-1

BaseQRankSum
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QD
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MQRankSum
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SIO_000300: -1.769e0

FS
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SIO_000300: 2.764e0

VQSLOD
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SIO_000300: -6.256e-1

DP
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SIO_000300: 1.87816e6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 16

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2256
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1820
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 798
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European (Non-Finnish)
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allele count: 16
allele frequency: 1.520045601368041e-3
allele num: 10526
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.467e1

FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 1.09e0

VQSLOD
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DP
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SIO_000300: 1.874658e6

QD
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SIO_000300: 2.98e0

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

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

African
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Latino
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European (Non-Finnish)
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allele num: 10526
num of homozygotes: 0

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

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

African
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allele frequency: 4.599816007359706e-4
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num of homozygotes: 0

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

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

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

DP
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ReadPosRankSum
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FS
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QD
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1818
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 9.823182711198428e-5
allele num: 10180
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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variant carriers: 32

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

Latino
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allele count: 20
allele frequency: 4.504504504504504e-2
allele num: 444
num of homozygotes: 2

European (Non-Finnish)
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allele count: 993
allele frequency: 1.129178985672049e-1
allele num: 8794
num of homozygotes: 42

South Asian
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allele count: 322
allele frequency: 4.536489151873768e-2
allele num: 7098
num of homozygotes: 10

European (Finnish)
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allele count: 146
allele frequency: 8.827085852478839e-2
allele num: 1654
num of homozygotes: 6

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

Other
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allele count: 27
allele frequency: 1.144067796610169e-1
allele num: 236
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African
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allele count: 82
allele frequency: 4.196519959058342e-2
allele num: 1954
num of homozygotes: 5

FS
type: SiteQuality
SIO_000300: 2.654e0

VQSLOD
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MQ
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SIO_000300: 5.286e1

QD
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ReadPosRankSum
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SIO_000300: 4.06e-1

MQRankSum
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SIO_000300: -1.472e0

InbreedingCoeff
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SIO_000300: 8.96e-2

DP
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SIO_000300: 1.907854e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.535312180143296e-3
allele num: 1954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7098
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

MQ
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SIO_000300: 5.286e1

FS
type: SiteQuality
SIO_000300: 2.654e0

DP
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SIO_000300: 1.907854e6

ClippingRankSum
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SIO_000300: -3.65e-1

MQRankSum
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SIO_000300: -1.472e0

InbreedingCoeff
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SIO_000300: 8.96e-2

ReadPosRankSum
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SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

QD
type: SiteQuality
SIO_000300: 7.85e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

African
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allele count: 7
allele frequency: 3.283302063789869e-3
allele num: 2132
num of homozygotes: 0

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

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

European (Finnish)
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South Asian
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allele num: 7920
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East Asian
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Latino
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African
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allele frequency: 1.421800947867299e-3
allele num: 2110
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European (Non-Finnish)
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allele count: 0
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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GenotypeDepth
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variant carriers: 17

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
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num of homozygotes: 0

Other
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 9.138381201044387e-3
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Latino
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European (Non-Finnish)
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allele count: 10
allele frequency: 9.582215408202376e-4
allele num: 10436
num of homozygotes: 0

MQRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 9.904912836767037e-4
allele num: 10096
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.538715410002539e-4
allele num: 7878
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e-1

QD
type: SiteQuality
SIO_000300: 3.07e0

MQ
type: SiteQuality
SIO_000300: 5.48e1

FS
type: SiteQuality
SIO_000300: 1.493e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.888619e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.77e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.980982567353407e-4
allele num: 10096
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.447876447876448e-3
allele num: 2072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.538715410002539e-4
allele num: 7878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1814
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

DP
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SIO_000300: 1.888619e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
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SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 1.493e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 3.07e0

MQ
type: SiteQuality
SIO_000300: 5.48e1

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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variant carriers: 11

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 27

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 22

GenotypeQuality
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bin: 1.75e1
variant carriers: 6

GenotypeQuality
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bin: 3.25e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 25

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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bin: 1.25e1
variant carriers: 12

GenotypeQuality
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variant carriers: 19

GenotypeQuality
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bin: 5.75e1
variant carriers: 20

GenotypeQuality
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variant carriers: 13

GenotypeQuality
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variant carriers: 613

GenotypeQuality
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variant carriers: 34

GenotypeQuality
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bin: 9.25e1
variant carriers: 29

GenotypeQuality
all individuals: 309
bin: 8.25e1
variant carriers: 19

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 5

African
type: Population
allele count: 52
allele frequency: 2.253032928942808e-2
allele num: 2308
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 2.136215129429505e-3
allele num: 7958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 8.583690987124463e-3
allele num: 1864
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 2.037037037037037e-2
allele num: 540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 424
allele frequency: 3.707590066456803e-2
allele num: 11436
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 2.18978102189781e-2
allele num: 274
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 1.699029126213592e-2
allele num: 824
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.101e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 1.909389e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.789e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.179e0

VQSLOD
type: SiteQuality
SIO_000300: -3.874e-1

FS
type: SiteQuality
SIO_000300: 1.1127e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeDepth
all individuals: 161
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
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variant carriers: 0

GenotypeDepth
all individuals: 143
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 22252
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 2.5e0
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9192
bin: 9.75e1
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GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 4.332755632582322e-4
allele num: 2308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1127e1

DP
type: SiteQuality
SIO_000300: 1.909389e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.179e0

MQ
type: SiteQuality
SIO_000300: 5.101e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.874e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.789e-1

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
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variant carriers: 0

GenotypeDepth
all individuals: 129
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variant carriers: 0

GenotypeDepth
all individuals: 5442
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GenotypeDepth
all individuals: 843
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variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 339
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1239
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1304
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 210
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 1.256597134958532e-4
allele num: 7958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.179e0

VQSLOD
type: SiteQuality
SIO_000300: -3.874e-1

BaseQRankSum
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SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 1.1127e1

DP
type: SiteQuality
SIO_000300: 1.909389e6

MQ
type: SiteQuality
SIO_000300: 5.101e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.789e-1

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
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variant carriers: 0

GenotypeDepth
all individuals: 285
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GenotypeDepth
all individuals: 237
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GenotypeDepth
all individuals: 159
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variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
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GenotypeQuality
all individuals: 2999
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 22252
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.256597134958532e-4
allele num: 7958
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
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SIO_000300: -1.179e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.909389e6

FS
type: SiteQuality
SIO_000300: 1.1127e1

MQ
type: SiteQuality
SIO_000300: 5.101e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.789e-1

QD
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeDepth
all individuals: 154
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8149
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variant carriers: 20

GenotypeDepth
all individuals: 151
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GenotypeDepth
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GenotypeDepth
all individuals: 184
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GenotypeQuality
all individuals: 423
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GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 211
bin: 2.75e1
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GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 675
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 263
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GenotypeQuality
all individuals: 1308
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8571
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variant carriers: 21

GenotypeQuality
all individuals: 330
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GenotypeQuality
all individuals: 288
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GenotypeQuality
all individuals: 243
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GenotypeQuality
all individuals: 206
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10554
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 1.142595978062157e-2
allele num: 2188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
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SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.513e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.544e0

FS
type: SiteQuality
SIO_000300: 2.424e0

MQRankSum
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SIO_000300: -4.346e0

BaseQRankSum
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SIO_000300: 1.68e0

ReadPosRankSum
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SIO_000300: -1.604e0

VQSLOD
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SIO_000300: -1.122e0

DP
type: SiteQuality
SIO_000300: 1.877882e6

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1818
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.785011355034065e-4
allele num: 7926
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10530
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.81e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

VQSLOD
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.598e1

BaseQRankSum
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SIO_000300: -3.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.878725e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

South Asian
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allele count: 8
allele frequency: 1.009336361342417e-3
allele num: 7926
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10568
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.879348e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -5.62e-2

BaseQRankSum
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QD
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SIO_000300: 6.5e0

MQ
type: SiteQuality
SIO_000300: 5.622e1

GenotypeDepth
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variant carriers: 2

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

European (Finnish)
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allele count: 2
allele frequency: 1.240694789081886e-3
allele num: 1612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 8.339289969025494e-4
allele num: 8394
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 8.813160987074031e-4
allele num: 6808
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 2.768549280177187e-3
allele num: 1806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -9.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.377e1

BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.542e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.901786e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 20

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 21

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 700
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 25
allele frequency: 1.384274640088594e-2
allele num: 1806
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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DP
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8394
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East Asian
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South Asian
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allele frequency: 2.937720329024677e-4
allele num: 6808
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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FS
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DP
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 9.407337723424271e-5
allele num: 10630
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

Latino
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South Asian
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European (Non-Finnish)
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East Asian
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African
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Other
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InbreedingCoeff
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DP
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VQSLOD
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FS
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 3
allele frequency: 1.364877161055505e-3
allele num: 2198
num of homozygotes: 0

South Asian
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allele frequency: 5.046681806712087e-4
allele num: 7926
num of homozygotes: 0

Latino
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East Asian
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allele frequency: 4.796163069544364e-3
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 9.416195856873823e-5
allele num: 10620
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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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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Other
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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QD
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DP
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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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Other
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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QD
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ReadPosRankSum
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DP
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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South Asian
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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 3.19926873857404e-3
allele num: 2188
num of homozygotes: 0

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

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

FS
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SIO_000300: 6.49e0

InbreedingCoeff
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DP
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VQSLOD
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QD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.7e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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Latino
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allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

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

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

Other
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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FS
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -1.105e0

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 9.361542782250516e-5
allele num: 10682
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 1
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allele num: 7928
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
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allele frequency: 0.0e0
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East Asian
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num of homozygotes: 0

Other
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BaseQRankSum
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SIO_000300: -1.105e0

ClippingRankSum
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SIO_000300: -7.61e-1

MQRankSum
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DP
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SIO_000300: 1.894817e6

MQ
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VQSLOD
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 5.35e-2

ReadPosRankSum
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SIO_000300: 1.6e-2

QD
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SIO_000300: 2.71e0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 20

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 36

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 701
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variant carriers: 0

African
type: Population
allele count: 35
allele frequency: 1.640112464854733e-2
allele num: 2134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10620
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
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Latino
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allele frequency: 1.915708812260536e-3
allele num: 522
num of homozygotes: 0

East Asian
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allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

ReadPosRankSum
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SIO_000300: 6.52e-1

QD
type: SiteQuality
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InbreedingCoeff
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MQ
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SIO_000300: 5.428e1

ClippingRankSum
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SIO_000300: 2.61e-1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 5.56e-1

MQRankSum
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SIO_000300: 1.56e0

DP
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SIO_000300: 1.896609e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7932
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 4.508566275924256e-4
allele num: 2218
num of homozygotes: 0

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

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

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

Other
type: Population
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BaseQRankSum
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SIO_000300: 3.58e-1

MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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QD
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InbreedingCoeff
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SIO_000300: 5.31e-2

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1822
num of homozygotes: 0

South Asian
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allele frequency: 1.260716086737267e-4
allele num: 7932
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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VQSLOD
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MQ
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.995004995004995e-4
allele num: 2002
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 430
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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SIO_000300: 1.951959e6

MQRankSum
type: SiteQuality
SIO_000300: -1.798e0

MQ
type: SiteQuality
SIO_000300: 5.228e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

QD
type: SiteQuality
SIO_000300: 3.6e-1

GenotypeDepth
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6729
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 148
bin: 7.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20777
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8141
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3404
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7049
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 7.146260123868509e-4
allele num: 8396
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 9.99000999000999e-4
allele num: 2002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.544502617801048e-4
allele num: 1528
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.241e-1

QD
type: SiteQuality
SIO_000300: 3.6e-1

DP
type: SiteQuality
SIO_000300: 1.951959e6

FS
type: SiteQuality
SIO_000300: 1.1436e1

MQRankSum
type: SiteQuality
SIO_000300: -1.798e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

MQ
type: SiteQuality
SIO_000300: 5.228e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.747e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeDepth
all individuals: 313
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20777
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 7.25e1
variant carriers: 0