3-195498506-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498506
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498506
    reference: chr 3
allele count: 1
allele frequency: 8.512811781731506e-6
allele num: 117470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13242+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.397+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.487+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.397+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13242+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13242+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.487+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13256+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13166+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13166+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13166+17C>A
  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.534+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13242+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13256+17C>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.381+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13242+17C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.397+17C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-195498517-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498517
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498517
    reference: chr 3
allele count: 3
allele frequency: 2.514163118903154e-5
allele num: 119324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13256+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13242+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13166+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13256+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13242+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.397+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13242+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.487+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13166+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.534+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.487+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.397+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.397+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13242+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13166+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13242+6C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.381+6C>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.13242+6C>G
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

3-195498532-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498532
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498532
    reference: chr 3
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.372A>G
  hgvsp: ENST00000349607.4:c.372A>G(p.%3D)
  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.13247A>G
  hgvsp: ENSP00000417722.1:p.His4416Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.478A>G
  hgvsp: ENSP00000389780.1:p.His160Arg
  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.13157A>G
  hgvsp: ENSP00000419989.1:p.His4386Arg
  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.13157A>G
  hgvsp: ENSP00000417397.1:p.His4386Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.388A>G
  hgvsp: ENSP00000376208.2:p.His130Arg
  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.13157A>G
  hgvsp: ENSP00000420439.1:p.His4386Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.478A>G
  hgvsp: ENSP00000310528.8:p.His160Arg
  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.13233A>G
  hgvsp: ENST00000478156.1:c.13233A>G(p.%3D)
  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.13247A>G
  hgvsp: ENSP00000417757.1:p.His4416Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.388A>G
  hgvsp: ENSP00000407750.1:p.His130Arg
  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.13233A>G
  hgvsp: ENST00000463781.3:c.13233A>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.13233A>G
  hgvsp: ENST00000475231.1:c.13233A>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.13233A>G
  hgvsp: ENST00000480843.1:c.13233A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.525A>G
  hgvsp: ENST00000346145.4:c.525A>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.13233A>G
  hgvsp: ENST00000477756.1:c.13233A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.388A>G
  hgvsp: ENSP00000345378.5:p.His130Arg
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His130Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

3-195498533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498533
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498533
    reference: chr 3
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.371C>T
  hgvsp: ENSP00000338109.4:p.Thr124Ile
  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.13232C>T
  hgvsp: ENSP00000417657.1:p.Thr4411Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.387C>T
  hgvsp: ENSP00000376208.2:p.His130Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.387C>T
  hgvsp: ENSP00000345378.5:p.His130Tyr
  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.13156C>T
  hgvsp: ENSP00000420439.1:p.His4386Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.477C>T
  hgvsp: ENSP00000310528.8:p.His160Tyr
  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.13246C>T
  hgvsp: ENSP00000417722.1:p.His4416Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.477C>T
  hgvsp: ENSP00000389780.1:p.His160Tyr
  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.13156C>T
  hgvsp: ENSP00000419989.1:p.His4386Tyr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.524C>T
  hgvsp: ENSP00000304207.6:p.Thr175Ile
  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.13232C>T
  hgvsp: ENSP00000417498.3:p.Thr4411Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.387C>T
  hgvsp: ENSP00000407750.1:p.His130Tyr
  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.13156C>T
  hgvsp: ENSP00000417397.1:p.His4386Tyr
  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.13232C>T
  hgvsp: ENSP00000418306.1:p.Thr4411Ile
  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.13232C>T
  hgvsp: ENSP00000420243.1:p.Thr4411Ile
  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.13246C>T
  hgvsp: ENSP00000417757.1:p.His4416Tyr
  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.13232C>T
  hgvsp: ENSP00000419798.1:p.Thr4411Ile
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr4411Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP

3-195498534-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498534
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498534
    reference: chr 3
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
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.13231A>C
  hgvsp: ENSP00000418306.1:p.Thr4411Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.386A>C
  hgvsp: ENST00000339251.5:c.386A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.370A>C
  hgvsp: ENSP00000338109.4:p.Thr124Pro
  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.13231A>C
  hgvsp: ENSP00000417657.1:p.Thr4411Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.476A>C
  hgvsp: ENST00000448861.1:c.476A>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.13155A>C
  hgvsp: ENST00000477086.1:c.13155A>C(p.%3D)
  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.13231A>C
  hgvsp: ENSP00000419798.1:p.Thr4411Pro
  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.13231A>C
  hgvsp: ENSP00000417498.3:p.Thr4411Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.523A>C
  hgvsp: ENSP00000304207.6:p.Thr175Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.386A>C
  hgvsp: ENST00000392407.2:c.386A>C(p.%3D)
  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.13231A>C
  hgvsp: ENSP00000420243.1:p.Thr4411Pro
  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.13155A>C
  hgvsp: ENST00000462323.1:c.13155A>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.13245A>C
  hgvsp: ENST00000479406.1:c.13245A>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: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.386A>C
  hgvsp: ENST00000415455.1:c.386A>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.13155A>C
  hgvsp: ENST00000470451.1:c.13155A>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: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13245A>C
  hgvsp: ENST00000466475.1:c.13245A>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: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.476A>C
  hgvsp: ENST00000308466.8:c.476A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr4411Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-195498542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498542
    reference: chr 3
allele count: 277
allele frequency: 2.289369720812602e-3
allele num: 120994
alternate allele: T
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.13223G>A
  hgvsp: ENSP00000419798.1:p.Arg4408Gln
  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.13223G>A
  hgvsp: ENSP00000417657.1:p.Arg4408Gln
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.378G>A
  hgvsp: ENSP00000407750.1:p.Gly127Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.468G>A
  hgvsp: ENSP00000389780.1:p.Gly157Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.378G>A
  hgvsp: ENSP00000345378.5:p.Gly127Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.468G>A
  hgvsp: ENSP00000310528.8:p.Gly157Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.515G>A
  hgvsp: ENSP00000304207.6:p.Arg172Gln
  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.13147G>A
  hgvsp: ENSP00000420439.1:p.Gly4383Arg
  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.13147G>A
  hgvsp: ENSP00000419989.1:p.Gly4383Arg
  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.13223G>A
  hgvsp: ENSP00000417498.3:p.Arg4408Gln
  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.13223G>A
  hgvsp: ENSP00000418306.1:p.Arg4408Gln
  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.13147G>A
  hgvsp: ENSP00000417397.1:p.Gly4383Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.362G>A
  hgvsp: ENSP00000338109.4:p.Arg121Gln
  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.13237G>A
  hgvsp: ENSP00000417757.1:p.Gly4413Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.378G>A
  hgvsp: ENSP00000376208.2:p.Gly127Arg
  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.13237G>A
  hgvsp: ENSP00000417722.1:p.Gly4413Arg
  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.13223G>A
  hgvsp: ENSP00000420243.1:p.Arg4408Gln
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg4408Gln
num of homozygotes: 7
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-195498543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498543
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498543
    reference: chr 3
allele count: 22
allele frequency: 1.817190623296384e-4
allele num: 121066
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.13146C>T
  hgvsp: ENST00000462323.1:c.13146C>T(p.%3D)
  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.13222C>T
  hgvsp: ENSP00000417657.1:p.Arg4408Trp
  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.13236C>T
  hgvsp: ENST00000466475.1:c.13236C>T(p.%3D)
  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.13222C>T
  hgvsp: ENSP00000420243.1:p.Arg4408Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.514C>T
  hgvsp: ENSP00000304207.6:p.Arg172Trp
  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.13222C>T
  hgvsp: ENSP00000417498.3:p.Arg4408Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.467C>T
  hgvsp: ENST00000448861.1:c.467C>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: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.377C>T
  hgvsp: ENST00000415455.1:c.377C>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.13236C>T
  hgvsp: ENST00000479406.1:c.13236C>T(p.%3D)
  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.13222C>T
  hgvsp: ENSP00000418306.1:p.Arg4408Trp
  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.13222C>T
  hgvsp: ENSP00000419798.1:p.Arg4408Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.377C>T
  hgvsp: ENST00000392407.2:c.377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.361C>T
  hgvsp: ENSP00000338109.4:p.Arg121Trp
  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.13146C>T
  hgvsp: ENST00000477086.1:c.13146C>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.13146C>T
  hgvsp: ENST00000470451.1:c.13146C>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: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.467C>T
  hgvsp: ENST00000308466.8:c.467C>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: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.377C>T
  hgvsp: ENST00000339251.5:c.377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg4408Trp
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

3-195498547-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498547
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498547
    reference: chr 3
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.373T>C
  hgvsp: ENSP00000345378.5:p.Leu125Pro
  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.13218T>C
  hgvsp: ENST00000475231.1:c.13218T>C(p.%3D)
  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.13142T>C
  hgvsp: ENSP00000420439.1:p.Leu4381Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.373T>C
  hgvsp: ENSP00000407750.1:p.Leu125Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.510T>C
  hgvsp: ENST00000346145.4:c.510T>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.13218T>C
  hgvsp: ENST00000480843.1:c.13218T>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.13218T>C
  hgvsp: ENST00000463781.3:c.13218T>C(p.%3D)
  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.13232T>C
  hgvsp: ENSP00000417757.1:p.Leu4411Pro
  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.13142T>C
  hgvsp: ENSP00000419989.1:p.Leu4381Pro
  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.13232T>C
  hgvsp: ENSP00000417722.1:p.Leu4411Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.463T>C
  hgvsp: ENSP00000389780.1:p.Leu155Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.463T>C
  hgvsp: ENSP00000310528.8:p.Leu155Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.357T>C
  hgvsp: ENST00000349607.4:c.357T>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.13218T>C
  hgvsp: ENST00000477756.1:c.13218T>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.13218T>C
  hgvsp: ENST00000478156.1:c.13218T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.373T>C
  hgvsp: ENSP00000376208.2:p.Leu125Pro
  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.13142T>C
  hgvsp: ENSP00000417397.1:p.Leu4381Pro
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu125Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS

3-195498553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498553
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498553
    reference: chr 3
allele count: 4
allele frequency: 3.299622193258872e-5
allele num: 121226
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.13136C>T
  hgvsp: ENSP00000417397.1:p.Ser4379Phe
  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.13136C>T
  hgvsp: ENSP00000420439.1:p.Ser4379Phe
  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.13136C>T
  hgvsp: ENSP00000419989.1:p.Ser4379Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.351C>T
  hgvsp: ENST00000349607.4:c.351C>T(p.%3D)
  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.13226C>T
  hgvsp: ENSP00000417722.1:p.Ser4409Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.457C>T
  hgvsp: ENSP00000310528.8:p.Ser153Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.504C>T
  hgvsp: ENST00000346145.4:c.504C>T(p.%3D)
  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.13226C>T
  hgvsp: ENSP00000417757.1:p.Ser4409Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.367C>T
  hgvsp: ENSP00000345378.5:p.Ser123Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.457C>T
  hgvsp: ENSP00000389780.1:p.Ser153Phe
  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.13212C>T
  hgvsp: ENST00000478156.1:c.13212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.367C>T
  hgvsp: ENSP00000407750.1:p.Ser123Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.367C>T
  hgvsp: ENSP00000376208.2:p.Ser123Phe
  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.13212C>T
  hgvsp: ENST00000463781.3:c.13212C>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.13212C>T
  hgvsp: ENST00000475231.1:c.13212C>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.13212C>T
  hgvsp: ENST00000477756.1:c.13212C>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.13212C>T
  hgvsp: ENST00000480843.1:c.13212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser123Phe
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

3-195498564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498564
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498564
    reference: chr 3
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
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.13215G>A
  hgvsp: ENST00000466475.1:c.13215G>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: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.446G>A
  hgvsp: ENST00000308466.8:c.446G>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: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.356G>A
  hgvsp: ENST00000392407.2:c.356G>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: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.356G>A
  hgvsp: ENST00000339251.5:c.356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.340G>A
  hgvsp: ENSP00000338109.4:p.Asp114Asn
  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.13201G>A
  hgvsp: ENSP00000417657.1:p.Asp4401Asn
  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.13125G>A
  hgvsp: ENST00000477086.1:c.13125G>A(p.%3D)
  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.13201G>A
  hgvsp: ENSP00000418306.1:p.Asp4401Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.446G>A
  hgvsp: ENST00000448861.1:c.446G>A(p.%3D)
  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.13201G>A
  hgvsp: ENSP00000417498.3:p.Asp4401Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.493G>A
  hgvsp: ENSP00000304207.6:p.Asp165Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.356G>A
  hgvsp: ENST00000415455.1:c.356G>A(p.%3D)
  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.13201G>A
  hgvsp: ENSP00000419798.1:p.Asp4401Asn
  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.13215G>A
  hgvsp: ENST00000479406.1:c.13215G>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.13125G>A
  hgvsp: ENST00000462323.1:c.13125G>A(p.%3D)
  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.13201G>A
  hgvsp: ENSP00000420243.1:p.Asp4401Asn
  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.13125G>A
  hgvsp: ENST00000470451.1:c.13125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp4401Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

3-195498565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498565
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498565
    reference: chr 3
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
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.13214C>T
  hgvsp: ENSP00000417722.1:p.Thr4405Met
  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.13214C>T
  hgvsp: ENSP00000417757.1:p.Thr4405Met
  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.13200C>T
  hgvsp: ENST00000463781.3:c.13200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.445C>T
  hgvsp: ENSP00000310528.8:p.Thr149Met
  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.13124C>T
  hgvsp: ENSP00000420439.1:p.Thr4375Met
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.445C>T
  hgvsp: ENSP00000389780.1:p.Thr149Met
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.492C>T
  hgvsp: ENST00000346145.4:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.355C>T
  hgvsp: ENSP00000376208.2:p.Thr119Met
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.355C>T
  hgvsp: ENSP00000407750.1:p.Thr119Met
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.339C>T
  hgvsp: ENST00000349607.4:c.339C>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.13200C>T
  hgvsp: ENST00000478156.1:c.13200C>T(p.%3D)
  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.13124C>T
  hgvsp: ENSP00000417397.1:p.Thr4375Met
  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.13124C>T
  hgvsp: ENSP00000419989.1:p.Thr4375Met
  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.13200C>T
  hgvsp: ENST00000477756.1:c.13200C>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.13200C>T
  hgvsp: ENST00000480843.1:c.13200C>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.13200C>T
  hgvsp: ENST00000475231.1:c.13200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.355C>T
  hgvsp: ENSP00000345378.5:p.Thr119Met
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr119Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-195498569-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498569
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498569
    reference: chr 3
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13196G>T
  hgvsp: ENSP00000420243.1:p.Trp4399Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.441G>T
  hgvsp: ENSP00000389780.1:p.Gly148Trp
  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.13120G>T
  hgvsp: ENSP00000420439.1:p.Gly4374Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.488G>T
  hgvsp: ENSP00000304207.6:p.Trp163Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.351G>T
  hgvsp: ENSP00000407750.1:p.Gly118Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.351G>T
  hgvsp: ENSP00000345378.5:p.Gly118Trp
  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.13210G>T
  hgvsp: ENSP00000417722.1:p.Gly4404Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.441G>T
  hgvsp: ENSP00000310528.8:p.Gly148Trp
  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.13196G>T
  hgvsp: ENSP00000417657.1:p.Trp4399Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.351G>T
  hgvsp: ENSP00000376208.2:p.Gly118Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.335G>T
  hgvsp: ENSP00000338109.4:p.Trp112Leu
  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.13120G>T
  hgvsp: ENSP00000419989.1:p.Gly4374Trp
  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.13196G>T
  hgvsp: ENSP00000418306.1:p.Trp4399Leu
  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.13196G>T
  hgvsp: ENSP00000417498.3:p.Trp4399Leu
  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.13196G>T
  hgvsp: ENSP00000419798.1:p.Trp4399Leu
  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.13210G>T
  hgvsp: ENSP00000417757.1:p.Gly4404Trp
  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.13120G>T
  hgvsp: ENSP00000417397.1:p.Gly4374Trp
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp4399Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-195498571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498571
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498571
    reference: chr 3
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.349C>T
  hgvsp: ENSP00000376208.2:p.Ser117Phe
  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.13118C>T
  hgvsp: ENSP00000419989.1:p.Ser4373Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.439C>T
  hgvsp: ENSP00000389780.1:p.Ser147Phe
  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.13208C>T
  hgvsp: ENSP00000417722.1:p.Ser4403Phe
  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.13194C>T
  hgvsp: ENST00000477756.1:c.13194C>T(p.%3D)
  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.13118C>T
  hgvsp: ENSP00000420439.1:p.Ser4373Phe
  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.13118C>T
  hgvsp: ENSP00000417397.1:p.Ser4373Phe
  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.13194C>T
  hgvsp: ENST00000480843.1:c.13194C>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.13194C>T
  hgvsp: ENST00000475231.1:c.13194C>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.13194C>T
  hgvsp: ENST00000478156.1:c.13194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.349C>T
  hgvsp: ENSP00000407750.1:p.Ser117Phe
  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.13208C>T
  hgvsp: ENSP00000417757.1:p.Ser4403Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.486C>T
  hgvsp: ENST00000346145.4:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.349C>T
  hgvsp: ENSP00000345378.5:p.Ser117Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.333C>T
  hgvsp: ENST00000349607.4:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.439C>T
  hgvsp: ENSP00000310528.8:p.Ser147Phe
  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.13194C>T
  hgvsp: ENST00000463781.3:c.13194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser117Phe
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-195498578-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498578
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498578
    reference: chr 3
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.432C>G
  hgvsp: ENSP00000310528.8:p.Leu145Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.342C>G
  hgvsp: ENSP00000376208.2:p.Leu115Val
  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.13111C>G
  hgvsp: ENSP00000419989.1:p.Leu4371Val
  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.13201C>G
  hgvsp: ENSP00000417722.1:p.Leu4401Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.432C>G
  hgvsp: ENSP00000389780.1:p.Leu145Val
  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.13187C>G
  hgvsp: ENSP00000417657.1:p.Ala4396Gly
  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.13187C>G
  hgvsp: ENSP00000420243.1:p.Ala4396Gly
  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.13111C>G
  hgvsp: ENSP00000420439.1:p.Leu4371Val
  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.13187C>G
  hgvsp: ENSP00000419798.1:p.Ala4396Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.479C>G
  hgvsp: ENSP00000304207.6:p.Ala160Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.342C>G
  hgvsp: ENSP00000407750.1:p.Leu115Val
  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.13187C>G
  hgvsp: ENSP00000417498.3:p.Ala4396Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.342C>G
  hgvsp: ENSP00000345378.5:p.Leu115Val
  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.13201C>G
  hgvsp: ENSP00000417757.1:p.Leu4401Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.326C>G
  hgvsp: ENSP00000338109.4:p.Ala109Gly
  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.13111C>G
  hgvsp: ENSP00000417397.1:p.Leu4371Val
  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.13187C>G
  hgvsp: ENSP00000418306.1:p.Ala4396Gly
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala4396Gly
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/3-195498581-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498581
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498580
    reference: chr 3
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13183delG
  hgvsp: ENSP00000417498.3:p.Val4395TrpfsTer32
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.322delG
  hgvsp: ENSP00000338109.4:p.Val108TrpfsTer32
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.338delG
  hgvsp: ENSP00000376208.2:p.Trp113CysfsTer9
  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.13107delG
  hgvsp: ENSP00000419989.1:p.Trp4369CysfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.475delG
  hgvsp: ENSP00000304207.6:p.Val159TrpfsTer32
  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.13183delG
  hgvsp: ENSP00000419798.1:p.Val4395TrpfsTer32
  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.13183delG
  hgvsp: ENSP00000418306.1:p.Val4395TrpfsTer32
  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.13197delG
  hgvsp: ENSP00000417722.1:p.Trp4399CysfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.428delG
  hgvsp: ENSP00000389780.1:p.Trp143CysfsTer9
  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.13107delG
  hgvsp: ENSP00000420439.1:p.Trp4369CysfsTer9
  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.13183delG
  hgvsp: ENSP00000420243.1:p.Val4395TrpfsTer74
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.338delG
  hgvsp: ENSP00000407750.1:p.Trp113CysfsTer9
  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.13183delG
  hgvsp: ENSP00000417657.1:p.Val4395TrpfsTer76
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.338delG
  hgvsp: ENSP00000345378.5:p.Trp113CysfsTer9
  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.13197delG
  hgvsp: ENSP00000417757.1:p.Trp4399CysfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.428delG
  hgvsp: ENSP00000310528.8:p.Trp143CysfsTer9
  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.13107delG
  hgvsp: ENSP00000417397.1:p.Trp4369CysfsTer9
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val4395TrpfsTer32
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: AC
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

3-195498583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498583
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498583
    reference: chr 3
allele count: 3
allele frequency: 2.472717681579902e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13106G>A
  hgvsp: ENSP00000417397.1:p.Trp4369Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.337G>A
  hgvsp: ENSP00000376208.2:p.Trp113Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.337G>A
  hgvsp: ENSP00000407750.1:p.Trp113Ter
  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.13182G>A
  hgvsp: ENST00000480843.1:c.13182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13196G>A
  hgvsp: ENSP00000417722.1:p.Trp4399Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13106G>A
  hgvsp: ENSP00000419989.1:p.Trp4369Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13196G>A
  hgvsp: ENSP00000417757.1:p.Trp4399Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.427G>A
  hgvsp: ENSP00000310528.8:p.Trp143Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.337G>A
  hgvsp: ENSP00000345378.5:p.Trp113Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.474G>A
  hgvsp: ENST00000346145.4:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13106G>A
  hgvsp: ENSP00000420439.1:p.Trp4369Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.427G>A
  hgvsp: ENSP00000389780.1:p.Trp143Ter
  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.13182G>A
  hgvsp: ENST00000463781.3:c.13182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.321G>A
  hgvsp: ENST00000349607.4:c.321G>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.13182G>A
  hgvsp: ENST00000475231.1:c.13182G>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.13182G>A
  hgvsp: ENST00000478156.1:c.13182G>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.13182G>A
  hgvsp: ENST00000477756.1:c.13182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp113Ter
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

3-195498588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498588
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498588
    reference: chr 3
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13177G>A
  hgvsp: ENSP00000417498.3:p.Ala4393Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.332G>A
  hgvsp: ENSP00000345378.5:p.Trp111Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13101G>A
  hgvsp: ENSP00000419989.1:p.Trp4367Ter
  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.13177G>A
  hgvsp: ENSP00000418306.1:p.Ala4393Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.422G>A
  hgvsp: ENSP00000389780.1:p.Trp141Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13191G>A
  hgvsp: ENSP00000417757.1:p.Trp4397Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13101G>A
  hgvsp: ENSP00000417397.1:p.Trp4367Ter
  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.13177G>A
  hgvsp: ENSP00000420243.1:p.Ala4393Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13191G>A
  hgvsp: ENSP00000417722.1:p.Trp4397Ter
  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.13177G>A
  hgvsp: ENSP00000417657.1:p.Ala4393Thr
  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.13177G>A
  hgvsp: ENSP00000419798.1:p.Ala4393Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.422G>A
  hgvsp: ENSP00000310528.8:p.Trp141Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.469G>A
  hgvsp: ENSP00000304207.6:p.Ala157Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.316G>A
  hgvsp: ENSP00000338109.4:p.Ala106Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13101G>A
  hgvsp: ENSP00000420439.1:p.Trp4367Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.332G>A
  hgvsp: ENSP00000376208.2:p.Trp111Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.332G>A
  hgvsp: ENSP00000407750.1:p.Trp111Ter
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp111Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

3-195498589-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498589
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498589
    reference: chr 3
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.331G>A
  hgvsp: ENSP00000345378.5:p.Trp111Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.421G>A
  hgvsp: ENSP00000389780.1:p.Trp141Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.331G>A
  hgvsp: ENSP00000376208.2:p.Trp111Ter
  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.13176G>A
  hgvsp: ENST00000478156.1:c.13176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.421G>A
  hgvsp: ENSP00000310528.8:p.Trp141Ter
  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.13176G>A
  hgvsp: ENST00000463781.3:c.13176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13100G>A
  hgvsp: ENSP00000417397.1:p.Trp4367Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13190G>A
  hgvsp: ENSP00000417722.1:p.Trp4397Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13190G>A
  hgvsp: ENSP00000417757.1:p.Trp4397Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.315G>A
  hgvsp: ENST00000349607.4:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13100G>A
  hgvsp: ENSP00000419989.1:p.Trp4367Ter
  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.13176G>A
  hgvsp: ENST00000475231.1:c.13176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13100G>A
  hgvsp: ENSP00000420439.1:p.Trp4367Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.468G>A
  hgvsp: ENST00000346145.4:c.468G>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.13176G>A
  hgvsp: ENST00000477756.1:c.13176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.331G>A
  hgvsp: ENSP00000407750.1:p.Trp111Ter
  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.13176G>A
  hgvsp: ENST00000480843.1:c.13176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp111Ter
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-195498593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498593
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498593
    reference: chr 3
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.327C>T
  hgvsp: ENST00000392407.2:c.327C>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.13096C>T
  hgvsp: ENST00000470451.1:c.13096C>T(p.%3D)
  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.13172C>T
  hgvsp: ENSP00000417657.1:p.Pro4391Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.311C>T
  hgvsp: ENSP00000338109.4:p.Pro104Leu
  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.13172C>T
  hgvsp: ENSP00000420243.1:p.Pro4391Leu
  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.13172C>T
  hgvsp: ENSP00000417498.3:p.Pro4391Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.417C>T
  hgvsp: ENST00000308466.8:c.417C>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.13186C>T
  hgvsp: ENST00000466475.1:c.13186C>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: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.417C>T
  hgvsp: ENST00000448861.1:c.417C>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: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.327C>T
  hgvsp: ENST00000339251.5:c.327C>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.13096C>T
  hgvsp: ENST00000462323.1:c.13096C>T(p.%3D)
  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.13172C>T
  hgvsp: ENSP00000419798.1:p.Pro4391Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.464C>T
  hgvsp: ENSP00000304207.6:p.Pro155Leu
  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.13096C>T
  hgvsp: ENST00000477086.1:c.13096C>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: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.327C>T
  hgvsp: ENST00000415455.1:c.327C>T(p.%3D)
  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.13172C>T
  hgvsp: ENSP00000418306.1:p.Pro4391Leu
  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.13186C>T
  hgvsp: ENST00000479406.1:c.13186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro4391Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

3-195498595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498595
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498595
    reference: chr 3
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13170C>T
  hgvsp: ENST00000463781.3:c.13170C>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.13170C>T
  hgvsp: ENST00000480843.1:c.13170C>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.13170C>T
  hgvsp: ENST00000478156.1:c.13170C>T(p.%3D)
  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.13094C>T
  hgvsp: ENSP00000419989.1:p.Thr4365Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.325C>T
  hgvsp: ENSP00000407750.1:p.Thr109Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.462C>T
  hgvsp: ENST00000346145.4:c.462C>T(p.%3D)
  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.13184C>T
  hgvsp: ENSP00000417722.1:p.Thr4395Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.309C>T
  hgvsp: ENST00000349607.4:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.325C>T
  hgvsp: ENSP00000345378.5:p.Thr109Ile
  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.13094C>T
  hgvsp: ENSP00000420439.1:p.Thr4365Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.415C>T
  hgvsp: ENSP00000389780.1:p.Thr139Ile
  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.13184C>T
  hgvsp: ENSP00000417757.1:p.Thr4395Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.325C>T
  hgvsp: ENSP00000376208.2:p.Thr109Ile
  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.13170C>T
  hgvsp: ENST00000477756.1:c.13170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.415C>T
  hgvsp: ENSP00000310528.8:p.Thr139Ile
  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.13094C>T
  hgvsp: ENSP00000417397.1:p.Thr4365Ile
  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.13170C>T
  hgvsp: ENST00000475231.1:c.13170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr109Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-195498599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498599
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498599
    reference: chr 3
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: T
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.13090G>A
  hgvsp: ENSP00000417397.1:p.Gly4364Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.321G>A
  hgvsp: ENSP00000345378.5:p.Gly108Arg
  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.13166G>A
  hgvsp: ENSP00000417498.3:p.Arg4389Gln
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.321G>A
  hgvsp: ENSP00000407750.1:p.Gly108Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.458G>A
  hgvsp: ENSP00000304207.6:p.Arg153Gln
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.411G>A
  hgvsp: ENSP00000310528.8:p.Gly138Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.321G>A
  hgvsp: ENSP00000376208.2:p.Gly108Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.411G>A
  hgvsp: ENSP00000389780.1:p.Gly138Arg
  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.13180G>A
  hgvsp: ENSP00000417757.1:p.Gly4394Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.305G>A
  hgvsp: ENSP00000338109.4:p.Arg102Gln
  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.13090G>A
  hgvsp: ENSP00000419989.1:p.Gly4364Arg
  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.13166G>A
  hgvsp: ENSP00000417657.1:p.Arg4389Gln
  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.13180G>A
  hgvsp: ENSP00000417722.1:p.Gly4394Arg
  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.13166G>A
  hgvsp: ENSP00000419798.1:p.Arg4389Gln
  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.13166G>A
  hgvsp: ENSP00000420243.1:p.Arg4389Gln
  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.13166G>A
  hgvsp: ENSP00000418306.1:p.Arg4389Gln
  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.13090G>A
  hgvsp: ENSP00000420439.1:p.Gly4364Arg
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg4389Gln
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

3-195498599-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498599
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498599
    reference: chr 3
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
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.13180G>C
  hgvsp: ENSP00000417722.1:p.Gly4394Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.321G>C
  hgvsp: ENSP00000407750.1:p.Gly108Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.321G>C
  hgvsp: ENSP00000376208.2:p.Gly108Arg
  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.13166G>C
  hgvsp: ENSP00000419798.1:p.Arg4389Pro
  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.13090G>C
  hgvsp: ENSP00000420439.1:p.Gly4364Arg
  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.13166G>C
  hgvsp: ENSP00000417498.3:p.Arg4389Pro
  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.13166G>C
  hgvsp: ENSP00000417657.1:p.Arg4389Pro
  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.13166G>C
  hgvsp: ENSP00000420243.1:p.Arg4389Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.411G>C
  hgvsp: ENSP00000389780.1:p.Gly138Arg
  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.13090G>C
  hgvsp: ENSP00000417397.1:p.Gly4364Arg
  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.13090G>C
  hgvsp: ENSP00000419989.1:p.Gly4364Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.321G>C
  hgvsp: ENSP00000345378.5:p.Gly108Arg
  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.13166G>C
  hgvsp: ENSP00000418306.1:p.Arg4389Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.458G>C
  hgvsp: ENSP00000304207.6:p.Arg153Pro
  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.13180G>C
  hgvsp: ENSP00000417757.1:p.Gly4394Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.411G>C
  hgvsp: ENSP00000310528.8:p.Gly138Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.305G>C
  hgvsp: ENSP00000338109.4:p.Arg102Pro
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg4389Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

3-195498600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498600
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498600
    reference: chr 3
allele count: 239
allele frequency: 1.96941230759089e-3
allele num: 121356
alternate allele: A
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.13165C>T
  hgvsp: ENSP00000419798.1:p.Arg4389Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.457C>T
  hgvsp: ENSP00000304207.6:p.Arg153Trp
  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.13165C>T
  hgvsp: ENSP00000417657.1:p.Arg4389Trp
  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.13165C>T
  hgvsp: ENSP00000420243.1:p.Arg4389Trp
  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.13165C>T
  hgvsp: ENSP00000417498.3:p.Arg4389Trp
  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.13089C>T
  hgvsp: ENST00000470451.1:c.13089C>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: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.320C>T
  hgvsp: ENST00000415455.1:c.320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.304C>T
  hgvsp: ENSP00000338109.4:p.Arg102Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.320C>T
  hgvsp: ENST00000339251.5:c.320C>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: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.410C>T
  hgvsp: ENST00000308466.8:c.410C>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.13089C>T
  hgvsp: ENST00000477086.1:c.13089C>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.13179C>T
  hgvsp: ENST00000466475.1:c.13179C>T(p.%3D)
  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.13165C>T
  hgvsp: ENSP00000418306.1:p.Arg4389Trp
  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.13089C>T
  hgvsp: ENST00000462323.1:c.13089C>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.13179C>T
  hgvsp: ENST00000479406.1:c.13179C>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: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.320C>T
  hgvsp: ENST00000392407.2:c.320C>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: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.410C>T
  hgvsp: ENST00000448861.1:c.410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg4389Trp
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

3-195498611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498611
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498611
    reference: chr 3
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078G>A
  hgvsp: ENSP00000419989.1:p.Ala4360Thr
  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.13154G>A
  hgvsp: ENSP00000420243.1:p.Gly4385Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078G>A
  hgvsp: ENSP00000420439.1:p.Ala4360Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.399G>A
  hgvsp: ENSP00000310528.8:p.Ala134Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309G>A
  hgvsp: ENSP00000345378.5:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.399G>A
  hgvsp: ENSP00000389780.1:p.Ala134Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.446G>A
  hgvsp: ENSP00000304207.6:p.Gly149Asp
  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.13168G>A
  hgvsp: ENSP00000417757.1:p.Ala4390Thr
  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.13168G>A
  hgvsp: ENSP00000417722.1:p.Ala4390Thr
  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.13154G>A
  hgvsp: ENSP00000417498.3:p.Gly4385Asp
  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.13154G>A
  hgvsp: ENSP00000417657.1:p.Gly4385Asp
  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.13154G>A
  hgvsp: ENSP00000418306.1:p.Gly4385Asp
  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.13154G>A
  hgvsp: ENSP00000419798.1:p.Gly4385Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309G>A
  hgvsp: ENSP00000407750.1:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078G>A
  hgvsp: ENSP00000417397.1:p.Ala4360Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.293G>A
  hgvsp: ENSP00000338109.4:p.Gly98Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309G>A
  hgvsp: ENSP00000376208.2:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly4385Asp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

3-195498617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498617
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498617
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13162C>T
  hgvsp: ENSP00000417722.1:p.Gln4388Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13162C>T
  hgvsp: ENSP00000417757.1:p.Gln4388Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-6C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.393C>T
  hgvsp: ENSP00000310528.8:p.Gln132Ter
  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.13148C>T
  hgvsp: ENSP00000418306.1:p.Pro4383Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.287C>T
  hgvsp: ENSP00000338109.4:p.Pro96Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.440C>T
  hgvsp: ENSP00000304207.6:p.Pro147Leu
  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.13148C>T
  hgvsp: ENSP00000420243.1:p.Pro4383Leu
  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.13148C>T
  hgvsp: ENSP00000419798.1:p.Pro4383Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-6C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-6C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.393C>T
  hgvsp: ENSP00000389780.1:p.Gln132Ter
  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.13148C>T
  hgvsp: ENSP00000417657.1:p.Pro4383Leu
  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.13148C>T
  hgvsp: ENSP00000417498.3:p.Pro4383Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-6C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-6C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-6C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln4388Ter
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

3-195498618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498618
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498618
    reference: chr 3
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.392C>T
  hgvsp: ENST00000448861.1:c.392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-7C>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.13147C>T
  hgvsp: ENSP00000417657.1:p.Pro4383Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.392C>T
  hgvsp: ENST00000308466.8:c.392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.286C>T
  hgvsp: ENSP00000338109.4:p.Pro96Ser
  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.13147C>T
  hgvsp: ENSP00000419798.1:p.Pro4383Ser
  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.13147C>T
  hgvsp: ENSP00000417498.3:p.Pro4383Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-7C>T
  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.13147C>T
  hgvsp: ENSP00000418306.1:p.Pro4383Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-7C>T
  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.13161C>T
  hgvsp: ENST00000479406.1:c.13161C>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.13161C>T
  hgvsp: ENST00000466475.1:c.13161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.439C>T
  hgvsp: ENSP00000304207.6:p.Pro147Ser
  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.13147C>T
  hgvsp: ENSP00000420243.1:p.Pro4383Ser
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro4383Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-195498629-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498629
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498629
    reference: chr 3
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-18C>A
  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.13136C>A
  hgvsp: ENSP00000420243.1:p.Pro4379His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.381C>A
  hgvsp: ENSP00000389780.1:p.Pro128Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-18C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.275C>A
  hgvsp: ENSP00000338109.4:p.Pro92His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-18C>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.13150C>A
  hgvsp: ENSP00000417722.1:p.Pro4384Thr
  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.13136C>A
  hgvsp: ENSP00000419798.1:p.Pro4379His
  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.13136C>A
  hgvsp: ENSP00000417498.3:p.Pro4379His
  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.13150C>A
  hgvsp: ENSP00000417757.1:p.Pro4384Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-18C>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.13136C>A
  hgvsp: ENSP00000417657.1:p.Pro4379His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.381C>A
  hgvsp: ENSP00000310528.8:p.Pro128Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-18C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-18C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.428C>A
  hgvsp: ENSP00000304207.6:p.Pro143His
  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.13136C>A
  hgvsp: ENSP00000418306.1:p.Pro4379His
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro4379His
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

3-195498637-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498637
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498637
    reference: chr 3
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
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.13128C>G
  hgvsp: ENSP00000419798.1:p.Phe4376Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-26C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.267C>G
  hgvsp: ENSP00000338109.4:p.Phe89Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.373C>G
  hgvsp: ENSP00000310528.8:p.Ser125Cys
  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.13142C>G
  hgvsp: ENSP00000417722.1:p.Ser4381Cys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.373C>G
  hgvsp: ENSP00000389780.1:p.Ser125Cys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-26C>G
  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.13128C>G
  hgvsp: ENSP00000420243.1:p.Phe4376Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-26C>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.13128C>G
  hgvsp: ENSP00000417657.1:p.Phe4376Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-26C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-26C>G
  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.13128C>G
  hgvsp: ENSP00000417498.3:p.Phe4376Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-26C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.420C>G
  hgvsp: ENSP00000304207.6:p.Phe140Leu
  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.13128C>G
  hgvsp: ENSP00000418306.1:p.Phe4376Leu
  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.13142C>G
  hgvsp: ENSP00000417757.1:p.Ser4381Cys
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe4376Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

3-195498642-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498642
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498642
    reference: chr 3
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
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.13123A>T
  hgvsp: ENSP00000419798.1:p.Ile4375Phe
  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.13123A>T
  hgvsp: ENSP00000420243.1:p.Ile4375Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.368A>T
  hgvsp: ENSP00000389780.1:p.Arg123Ser
  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.13123A>T
  hgvsp: ENSP00000417498.3:p.Ile4375Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.415A>T
  hgvsp: ENSP00000304207.6:p.Ile139Phe
  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.13123A>T
  hgvsp: ENSP00000418306.1:p.Ile4375Phe
  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.13123A>T
  hgvsp: ENSP00000417657.1:p.Ile4375Phe
  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.13137A>T
  hgvsp: ENSP00000417757.1:p.Arg4379Ser
  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.13137A>T
  hgvsp: ENSP00000417722.1:p.Arg4379Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-31A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.262A>T
  hgvsp: ENSP00000338109.4:p.Ile88Phe
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-31A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.368A>T
  hgvsp: ENSP00000310528.8:p.Arg123Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-31A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-31A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-31A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-31A>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile4375Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum

3-195498671-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498671
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498671
    reference: chr 3
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.339A>C
  hgvsp: ENST00000308466.8:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-60A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-60A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.339A>C
  hgvsp: ENST00000448861.1:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.386A>C
  hgvsp: ENSP00000304207.6:p.Gln129Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-60A>C
  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.13108A>C
  hgvsp: ENST00000479406.1:c.13108A>C(p.%3D)
  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.13094A>C
  hgvsp: ENSP00000417657.1:p.Gln4365Pro
  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.13094A>C
  hgvsp: ENSP00000417498.3:p.Gln4365Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-60A>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.13094A>C
  hgvsp: ENSP00000420243.1:p.Gln4365Pro
  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.13094A>C
  hgvsp: ENSP00000418306.1:p.Gln4365Pro
  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.13094A>C
  hgvsp: ENSP00000419798.1:p.Gln4365Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-60A>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.13108A>C
  hgvsp: ENST00000466475.1:c.13108A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.233A>C
  hgvsp: ENSP00000338109.4:p.Gln78Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-60A>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln4365Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-195498676-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498676
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498676
    reference: chr 3
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: C
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.13089T>G
  hgvsp: ENSP00000419798.1:p.Asn4363Lys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-65T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-65T>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.13103T>G
  hgvsp: ENSP00000417757.1:p.Met4368Arg
  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.13089T>G
  hgvsp: ENSP00000417657.1:p.Asn4363Lys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.381T>G
  hgvsp: ENSP00000304207.6:p.Asn127Lys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-65T>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.13089T>G
  hgvsp: ENSP00000418306.1:p.Asn4363Lys
  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.13103T>G
  hgvsp: ENSP00000417722.1:p.Met4368Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.334T>G
  hgvsp: ENSP00000310528.8:p.Met112Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-65T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.228T>G
  hgvsp: ENSP00000338109.4:p.Asn76Lys
  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.13089T>G
  hgvsp: ENSP00000420243.1:p.Asn4363Lys
  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.13089T>G
  hgvsp: ENSP00000417498.3:p.Asn4363Lys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.334T>G
  hgvsp: ENSP00000389780.1:p.Met112Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-65T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-65T>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn4363Lys
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

3-195498678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498678
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498678
    reference: chr 3
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.226A>G
  hgvsp: ENSP00000338109.4:p.Asn76Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-67A>G
  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.13087A>G
  hgvsp: ENSP00000420243.1:p.Asn4363Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.332A>G
  hgvsp: ENST00000308466.8:c.332A>G(p.%3D)
  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.13087A>G
  hgvsp: ENSP00000417498.3:p.Asn4363Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-67A>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.13087A>G
  hgvsp: ENSP00000418306.1:p.Asn4363Asp
  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.13101A>G
  hgvsp: ENST00000479406.1:c.13101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.379A>G
  hgvsp: ENSP00000304207.6:p.Asn127Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.332A>G
  hgvsp: ENST00000448861.1:c.332A>G(p.%3D)
  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.13087A>G
  hgvsp: ENSP00000417657.1:p.Asn4363Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-67A>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.13101A>G
  hgvsp: ENST00000466475.1:c.13101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-67A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-67A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-67A>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.13087A>G
  hgvsp: ENSP00000419798.1:p.Asn4363Asp
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn4363Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-195498679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498679
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498679
    reference: chr 3
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
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.13086C>T
  hgvsp: ENST00000475231.1:c.13086C>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.13086C>T
  hgvsp: ENST00000463781.3:c.13086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.331C>T
  hgvsp: ENSP00000310528.8:p.Thr111Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-68C>T
  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.13086C>T
  hgvsp: ENST00000478156.1:c.13086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.331C>T
  hgvsp: ENSP00000389780.1:p.Thr111Ile
  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.13086C>T
  hgvsp: ENST00000480843.1:c.13086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-68C>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.13100C>T
  hgvsp: ENSP00000417757.1:p.Thr4367Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-68C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-68C>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.13100C>T
  hgvsp: ENSP00000417722.1:p.Thr4367Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.225C>T
  hgvsp: ENST00000349607.4:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-68C>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.13086C>T
  hgvsp: ENST00000477756.1:c.13086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-68C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.378C>T
  hgvsp: ENST00000346145.4:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr4367Ile
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-195498692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498692
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498692
    reference: chr 3
allele count: 1
allele frequency: 8.278556881964336e-6
allele num: 120794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-81C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13078-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.323-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13078-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-81C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.370-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13078-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13092-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-81C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13078-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13092-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13078-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-81C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-81C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.323-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.217-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-81C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.13078-5C>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

3-195498695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498695
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498695
    reference: chr 3
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13078-8G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13078-8G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13078-8G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-84G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-84G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13092-8G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.323-8G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13092-8G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-84G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.323-8G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.217-8G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13078-8G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-84G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-84G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-84G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13078-8G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.370-8G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.13078-8G>A
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: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

3-195498696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498696
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498696
    reference: chr 3
allele count: 4
allele frequency: 3.315539935678525e-5
allele num: 120644
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.370-9T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-85T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13092-9T>C
  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.217-9T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.323-9T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-85T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13078-9T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13078-9T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-85T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-85T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13078-9T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-85T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-85T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.323-9T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13078-9T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13092-9T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13078-9T>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

3-195498697-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498697
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498697
    reference: chr 3
allele count: 1
allele frequency: 8.292974192264313e-6
allele num: 120584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.323-10A>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.217-10A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-86A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-86A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.323-10A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13092-10A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-86A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13078-10A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-86A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13078-10A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13078-10A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13078-10A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-86A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-86A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13092-10A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13078-10A>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.370-10A>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

3-195498701-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498701
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498701
    reference: chr 3
allele count: 5
allele frequency: 4.149859734740966e-5
allele num: 120486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13078-14A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-90A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13078-14A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13078-14A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13092-14A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.323-14A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-90A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13078-14A>T
  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.370-14A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-90A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13078-14A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.323-14A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-90A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13092-14A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-90A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-90A>T
  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.217-14A>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-195498714-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498714
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498715
    reference: chr 3
allele count: 1
allele frequency: 8.330278897737497e-6
allele num: 120044
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13078-28dupA
  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.217-28dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13078-28dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-104dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.323-28dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-104dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13078-28dupA
  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.370-28dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-104dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.323-28dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13092-28dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-104dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-104dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-104dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13078-28dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13092-28dupA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13078-28dupA
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30941
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-195498714-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498714
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498714
    reference: chr 3
allele count: 1
allele frequency: 8.330278897737497e-6
allele num: 120044
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.370-27T>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.217-27T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13078-27T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-103T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-103T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-103T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13078-27T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13078-27T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13078-27T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13078-27T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13092-27T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.323-27T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-103T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-103T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.323-27T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-103T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13092-27T>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

3-195498715-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498715
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498715
    reference: chr 3
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13078-28A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-104A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.323-28A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13078-28A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-104A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-104A>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.370-28A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.323-28A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13078-28A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13078-28A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-104A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-104A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-104A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13092-28A>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.217-28A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13078-28A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13092-28A>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

3-195498720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498720
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498720
    reference: chr 3
allele count: 19
allele frequency: 1.586506346025384e-4
allele num: 119760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13078-33C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13092-33C>T
  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.370-33C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13092-33C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-109C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-109C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-109C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-109C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13078-33C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13078-33C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.323-33C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.323-33C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13078-33C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-109C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13078-33C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-109C>T
  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.217-33C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14145
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-195498721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498721
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498721
    reference: chr 3
allele count: 1
allele frequency: 8.349196807267141e-6
allele num: 119772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13078-34C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13078-34C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-110C>T
  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.217-34C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-110C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13078-34C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13078-34C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13078-34C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.323-34C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13092-34C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.323-34C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-110C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-110C>T
  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.370-34C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-110C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13092-34C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-110C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-195498729-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498729
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498729
    reference: chr 3
allele count: 1
allele frequency: 8.377033524888167e-6
allele num: 119374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-118A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-118A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13078-42A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.323-42A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-118A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13092-42A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13092-42A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-118A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-118A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.323-42A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-118A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13078-42A>T
  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.370-42A>T
  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.217-42A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13078-42A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13078-42A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13078-42A>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-195498736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195498736
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195498736
    reference: chr 3
allele count: 1
allele frequency: 8.419776370739593e-6
allele num: 118768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13078-125C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13078-125C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13078-49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13078-49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.323-49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13078-49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13078-49C>T
  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.370-49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.323-49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13078-49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.309-125C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13092-49C>T
  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.217-49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.309-125C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13078-125C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.309-125C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13092-49C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

3-195500994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195500994
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195500994
    reference: chr 3
allele count: 1
allele frequency: 1.060625344703237e-5
allele num: 94284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+49C>T
  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.369+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+49C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+49C>T
  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.216+49C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

3-195500998-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195500998
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195500998
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 93926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+45A>C
  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.216+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+45A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+45A>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.369+45A>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

3-195501003-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501003
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501003
    reference: chr 3
allele count: 1
allele frequency: 1.05581012310746e-5
allele num: 94714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+40G>C
  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.216+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+40G>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.369+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+40G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+40G>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-195501007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501007
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501007
    reference: chr 3
allele count: 1
allele frequency: 1.051989311788592e-5
allele num: 95058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+36C>T
  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.216+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+36C>T
  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.369+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+36C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

3-195501009-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501009
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501009
    reference: chr 3
allele count: 23
allele frequency: 2.412570541464745e-4
allele num: 95334
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.369+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+34T>C
  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.216+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+34T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+34T>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-195501017-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501017
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501017
    reference: chr 3
allele count: 3
allele frequency: 3.116624072804338e-5
allele num: 96258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+26G>T
  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.216+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+26G>T
  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.369+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+26G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+26G>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10779
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-195501020-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501020
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501020
    reference: chr 3
allele count: 2
allele frequency: 2.064026089289769e-5
allele num: 96898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+23G>T
  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.369+23G>T
  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.216+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+23G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+23G>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-195501020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501020
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501020
    reference: chr 3
allele count: 4
allele frequency: 4.128052178579538e-5
allele num: 96898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+23G>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.216+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+23G>A
  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.369+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+23G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+23G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15878
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

3-195501021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501021
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501021
    reference: chr 3
allele count: 3996
allele frequency: 4.054383116883117e-2
allele num: 98560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+22C>T
  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.369+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+22C>T
  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.216+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+22C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+22C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21330
  bin: 2.25e1
  variant carriers: 926
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 2.75e1
  variant carriers: 564
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 166
genotype quality: GenotypeQuality
num of homozygotes: 174
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-195501022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501022
    reference: chr 3
allele count: 2
allele frequency: 2.023390392942414e-5
allele num: 98844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+21G>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.216+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+21G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+21G>A
  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.369+21G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

3-195501023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501023
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501023
    reference: chr 3
allele count: 1
allele frequency: 1.002285210279437e-5
allele num: 99772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+20C>T
  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.216+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+20C>T
  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.369+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+20C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+20C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

3-195501027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501027
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501027
    reference: chr 3
allele count: 8
allele frequency: 7.900454276120877e-5
allele num: 101260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+16G>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.216+16G>A
  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.369+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+16G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+16G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

3-195501028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501028
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501028
    reference: chr 3
allele count: 15
allele frequency: 1.477250344691747e-4
allele num: 101540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+15C>T
  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.369+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+15C>T
  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.216+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+15C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+15C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

3-195501034-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501034
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501034
    reference: chr 3
allele count: 1
allele frequency: 9.546903939052565e-6
allele num: 104746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+9G>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.369+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+9G>C
  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.216+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+9G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+9G>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

3-195501034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501034
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501034
    reference: chr 3
allele count: 3
allele frequency: 2.86407118171577e-5
allele num: 104746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+9G>A
  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.369+9G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+9G>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.216+9G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-195501036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501036
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501036
    reference: chr 3
allele count: 1
allele frequency: 9.413182220381423e-6
allele num: 106234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.216+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+7C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.369+7C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.13077+7C>T
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

3-195501039-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501039
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501039
    reference: chr 3
allele count: 3
allele frequency: 2.788000446080071e-5
allele num: 107604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.369+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.216+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+4A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+4A>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.13077+4A>T
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-195501040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195501040
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195501040
    reference: chr 3
allele count: 12
allele frequency: 1.11185234600845e-4
allele num: 107928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.308+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.369+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.13091+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.13091+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.13077+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.13077+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.322+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.13077+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.13077+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.13077+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.308+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.322+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.13077+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.216+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.308+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.13077+3G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.13077+3G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
hgvs: c.13077+3G>A
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 1884
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12695
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1587
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33187
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 729
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5333
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7369
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32793
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2331
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3150
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2807
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.002204850671477e-4
allele num: 9978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.582e1

DP
type: SiteQuality
SIO_000300: 1.515069e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.433e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

GenotypeDepth
all individuals: 370
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1665
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13816
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34403
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5993
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 751
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 978
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 996
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2995
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2503
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35282
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.557331226833567e-5
allele num: 65828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.1846e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -4.237e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.561211e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.279e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeDepth
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34649
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14656
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1722
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6383
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 772
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 203
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 375
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 8.25e1
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VQSLOD
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QD
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DP
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East Asian
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African
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MQ
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FS
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MQRankSum
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DP
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GenotypeDepth
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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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MQ
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VQSLOD
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DP
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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VQSLOD
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MQ
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East Asian
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East Asian
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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DP
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FS
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African
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South Asian
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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European (Finnish)
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South Asian
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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European (Finnish)
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Latino
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East Asian
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South Asian
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MQ
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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VQSLOD
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DP
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African
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
allele frequency: 4.497616263380409e-5
allele num: 66702
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

South Asian
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allele frequency: 1.38687015503876e-2
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Other
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East Asian
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allele frequency: 3.466605038132656e-4
allele num: 8654
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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DP
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MQ
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InbreedingCoeff
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SIO_000300: 5.1e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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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num of homozygotes: 0

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

Other
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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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Latino
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allele count: 0
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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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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66710
num of homozygotes: 0

European (Finnish)
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allele count: 0
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InbreedingCoeff
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SIO_000300: 0.0e0

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

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

Other
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num of homozygotes: 0

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

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

South Asian
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num of homozygotes: 0

Latino
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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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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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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allele frequency: 0.0e0
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East Asian
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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ClippingRankSum
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FS
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DP
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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East Asian
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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MQ
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ClippingRankSum
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BaseQRankSum
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DP
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VQSLOD
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FS
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QD
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MQRankSum
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ReadPosRankSum
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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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East Asian
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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MQ
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BaseQRankSum
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DP
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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FS
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DP
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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European (Non-Finnish)
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MQ
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DP
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InbreedingCoeff
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FS
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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European (Non-Finnish)
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African
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Other
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Latino
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East Asian
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South Asian
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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DP
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FS
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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Latino
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South Asian
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FS
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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African
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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DP
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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African
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Latino
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QD
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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African
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VQSLOD
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DP
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FS
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QD
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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European (Finnish)
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Latino
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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MQ
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQ
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DP
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QD
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ReadPosRankSum
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South Asian
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European (Finnish)
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African
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Latino
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FS
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MQ
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ClippingRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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QD
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FS
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InbreedingCoeff
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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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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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European (Finnish)
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Other
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African
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Latino
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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African
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South Asian
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MQRankSum
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DP
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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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VQSLOD
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InbreedingCoeff
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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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African
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Other
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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South Asian
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East Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: 1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -6.686e-1

DP
type: SiteQuality
SIO_000300: 9.54896e5

QD
type: SiteQuality
SIO_000300: 1.698e1

GenotypeDepth
all individuals: 13715
bin: 2.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1135
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8813
bin: 1.75e1
variant carriers: 10

GenotypeDepth
all individuals: 19482
bin: 1.25e1
variant carriers: 9

GenotypeDepth
all individuals: 11105
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 577
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variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 228
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 44
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 21

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2629
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variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 19
allele frequency: 2.087912087912088e-3
allele num: 9100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.537214999057848e-5
allele num: 53070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12150
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 7.28e-1

DP
type: SiteQuality
SIO_000300: 9.63838e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6281
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variant carriers: 2

GenotypeDepth
all individuals: 17898
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 228
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variant carriers: 0

GenotypeDepth
all individuals: 137
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variant carriers: 0

GenotypeDepth
all individuals: 122
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variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
all individuals: 44
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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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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 283
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variant carriers: 0

GenotypeQuality
all individuals: 604
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variant carriers: 0

GenotypeQuality
all individuals: 478
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variant carriers: 0

GenotypeQuality
all individuals: 5069
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15083
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variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 8.116883116883117e-5
allele num: 12320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.737619136609979e-5
allele num: 53510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

DP
type: SiteQuality
SIO_000300: 1.012966e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
all individuals: 608
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variant carriers: 1

GenotypeDepth
all individuals: 15878
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variant carriers: 0

GenotypeDepth
all individuals: 77
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variant carriers: 0

GenotypeDepth
all individuals: 228
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variant carriers: 0

GenotypeDepth
all individuals: 376
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variant carriers: 0

GenotypeDepth
all individuals: 20223
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variant carriers: 1

GenotypeDepth
all individuals: 11
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variant carriers: 0

GenotypeDepth
all individuals: 10520
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GenotypeDepth
all individuals: 1393
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GenotypeDepth
all individuals: 137
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GenotypeDepth
all individuals: 21
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GenotypeDepth
all individuals: 39
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GenotypeDepth
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 537
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variant carriers: 0

GenotypeQuality
all individuals: 4857
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variant carriers: 0

GenotypeQuality
all individuals: 4762
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2802
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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: 2

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
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variant carriers: 0

GenotypeQuality
all individuals: 1509
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variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.717472118959108e-5
allele num: 53800
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

DP
type: SiteQuality
SIO_000300: 1.042698e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.608e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.106e1

GenotypeDepth
all individuals: 4415
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 25
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variant carriers: 0

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

GenotypeDepth
all individuals: 10520
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variant carriers: 0

GenotypeDepth
all individuals: 39
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variant carriers: 0

GenotypeDepth
all individuals: 1072
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variant carriers: 0

GenotypeDepth
all individuals: 137
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variant carriers: 0

GenotypeDepth
all individuals: 376
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variant carriers: 0

GenotypeDepth
all individuals: 1393
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variant carriers: 1

GenotypeDepth
all individuals: 21
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variant carriers: 0

GenotypeDepth
all individuals: 44
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GenotypeDepth
all individuals: 5303
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variant carriers: 1

GenotypeDepth
all individuals: 11
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variant carriers: 0

GenotypeDepth
all individuals: 77
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4857
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variant carriers: 0

GenotypeQuality
all individuals: 297
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variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6722
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11681
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 635
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4762
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.717472118959108e-5
allele num: 53800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.854695974878676e-4
allele num: 7006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.608e0

QD
type: SiteQuality
SIO_000300: 1.106e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

DP
type: SiteQuality
SIO_000300: 1.042698e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeDepth
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bin: 5.25e1
variant carriers: 48

GenotypeDepth
all individuals: 252
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variant carriers: 55

GenotypeDepth
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variant carriers: 89

GenotypeDepth
all individuals: 26
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variant carriers: 8

GenotypeDepth
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variant carriers: 579

GenotypeDepth
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variant carriers: 980

GenotypeDepth
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variant carriers: 160

GenotypeDepth
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variant carriers: 3

GenotypeDepth
all individuals: 52
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variant carriers: 14

GenotypeDepth
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GenotypeDepth
all individuals: 1676
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variant carriers: 289

GenotypeDepth
all individuals: 142
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variant carriers: 32

GenotypeDepth
all individuals: 43
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variant carriers: 22

GenotypeDepth
all individuals: 38
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variant carriers: 10

GenotypeDepth
all individuals: 54
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variant carriers: 17

GenotypeQuality
all individuals: 940
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variant carriers: 28

GenotypeQuality
all individuals: 319
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variant carriers: 33

GenotypeQuality
all individuals: 4284
bin: 2.75e1
variant carriers: 12

GenotypeQuality
all individuals: 5827
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variant carriers: 13

GenotypeQuality
all individuals: 1301
bin: 4.25e1
variant carriers: 23

GenotypeQuality
all individuals: 959
bin: 5.25e1
variant carriers: 47

GenotypeQuality
all individuals: 2902
bin: 6.75e1
variant carriers: 27

GenotypeQuality
all individuals: 4777
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variant carriers: 3524

GenotypeQuality
all individuals: 1117
bin: 7.75e1
variant carriers: 54

GenotypeQuality
all individuals: 936
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variant carriers: 6

GenotypeQuality
all individuals: 664
bin: 5.75e1
variant carriers: 18

GenotypeQuality
all individuals: 4089
bin: 3.75e1
variant carriers: 23

GenotypeQuality
all individuals: 266
bin: 2.5e0
variant carriers: 7

GenotypeQuality
all individuals: 416
bin: 1.75e1
variant carriers: 13

GenotypeQuality
all individuals: 320
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variant carriers: 9

GenotypeQuality
all individuals: 331
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variant carriers: 39

GenotypeQuality
all individuals: 665
bin: 8.25e1
variant carriers: 52

GenotypeQuality
all individuals: 18317
bin: 6.25e1
variant carriers: 35

GenotypeQuality
all individuals: 1206
bin: 4.75e1
variant carriers: 32

GenotypeQuality
all individuals: 10882
bin: 2.25e1
variant carriers: 5

South Asian
type: Population
allele count: 600
allele frequency: 4.66345406497746e-2
allele num: 12866
num of homozygotes: 16

Latino
type: Population
allele count: 254
allele frequency: 2.702702702702703e-2
allele num: 9398
num of homozygotes: 1

Other
type: Population
allele count: 25
allele frequency: 3.591954022988506e-2
allele num: 696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 146
allele frequency: 2.790519877675841e-2
allele num: 5232
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 1087
allele frequency: 1.995887040505306e-2
allele num: 54462
num of homozygotes: 11

African
type: Population
allele count: 1804
allele frequency: 2.035657865041751e-1
allele num: 8862
num of homozygotes: 143

East Asian
type: Population
allele count: 80
allele frequency: 1.135718341851221e-2
allele num: 7044
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 1.482e1

VQSLOD
type: SiteQuality
SIO_000300: 6.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.082821e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

GenotypeDepth
all individuals: 421
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variant carriers: 0

GenotypeDepth
all individuals: 5297
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 5105
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 249
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GenotypeDepth
all individuals: 1776
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variant carriers: 0

GenotypeQuality
all individuals: 422
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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: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8914
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.83130058967879e-5
allele num: 54606
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: 7086
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.058649163667161e-4
allele num: 9446
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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DP
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ClippingRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 6.3e-3

QD
type: SiteQuality
SIO_000300: 1.306e1

BaseQRankSum
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SIO_000300: -8.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

GenotypeDepth
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bin: 8.75e1
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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.816068574749383e-5
allele num: 55064
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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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 count: 0
allele frequency: 0.0e0
allele num: 5290
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9570
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

FS
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SIO_000300: 1.565e0

BaseQRankSum
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SIO_000300: -3.82e-1

ClippingRankSum
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SIO_000300: 7.15e-1

MQ
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ReadPosRankSum
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SIO_000300: -7.15e-1

QD
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MQRankSum
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SIO_000300: -3.11e-1

VQSLOD
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SIO_000300: 1.07e0

InbreedingCoeff
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SIO_000300: -2.1e-3

DP
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SIO_000300: 1.119761e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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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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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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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 1.075037626316921e-4
allele num: 55812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.728560775540641e-4
allele num: 5364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
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SIO_000300: 1.506e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.24e-1

BaseQRankSum
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SIO_000300: 5.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.151958e6

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

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: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

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

East Asian
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allele count: 14
allele frequency: 1.928374655647383e-3
allele num: 7260
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.786926843215039e-5
allele num: 55962
num of homozygotes: 0

DP
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SIO_000300: 1.165455e6

BaseQRankSum
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FS
type: SiteQuality
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QD
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InbreedingCoeff
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SIO_000300: -3.4e-3

MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -5.25e-1

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.737800639510635e-5
allele num: 57544
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9216
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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.085069444444444e-4
allele num: 9216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5586
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.430819859779654e-4
allele num: 13978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 1.228129e6

FS
type: SiteQuality
SIO_000300: 4.319e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

QD
type: SiteQuality
SIO_000300: 1.541e1

GenotypeDepth
all individuals: 2678
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 818
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 79
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2560
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 690
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8156
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6682
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30945
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6797
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
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variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4904
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1951
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variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29348
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variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 834
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2753
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.713972302207596e-5
allele num: 58344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7716
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.343e0

QD
type: SiteQuality
SIO_000300: 1.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.25066e6

GenotypeDepth
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2798
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 639
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32800
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5703
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 444
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8454
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6074
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2020
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 832
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2270
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32040
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.08078447312265e-5
allele num: 59046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14410
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.327e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

QD
type: SiteQuality
SIO_000300: 8.51e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

DP
type: SiteQuality
SIO_000300: 1.276562e6

GenotypeDepth
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 628
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1939
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 33119
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variant carriers: 2

GenotypeDepth
all individuals: 255
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variant carriers: 0

GenotypeDepth
all individuals: 2885
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variant carriers: 2

GenotypeDepth
all individuals: 152
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variant carriers: 1

GenotypeDepth
all individuals: 36
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variant carriers: 0

GenotypeDepth
all individuals: 5413
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variant carriers: 1

GenotypeDepth
all individuals: 79
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variant carriers: 0

GenotypeDepth
all individuals: 444
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variant carriers: 0

GenotypeDepth
all individuals: 35
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variant carriers: 0

GenotypeDepth
all individuals: 841
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variant carriers: 2

GenotypeDepth
all individuals: 5863
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0