12-56491740-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56491740
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56491740
    reference: chr 12
allele count: 1656
allele frequency: 1.36861766310187e-2
allele num: 120998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.253+16G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-544G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2616+16G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2616+16G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.339+16G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.687+16G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-2226G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2439+16G>C
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 3.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 9684
  bin: 3.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 4.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 5.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 7.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 4.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 5.25e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 27
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

12-56491740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56491740
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56491740
    reference: chr 12
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2616+16G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.339+16G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.253+16G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-2226G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-544G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2439+16G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2616+16G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.687+16G>A
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
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: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

12-56491742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56491742
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56491742
    reference: chr 12
allele count: 2
allele frequency: 1.653849334325643e-5
allele num: 120930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-542G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-2224G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2439+18G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.339+18G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.687+18G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.253+18G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2616+18G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2616+18G>A
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24835
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-56491748-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56491748
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56491748
    reference: chr 12
allele count: 40
allele frequency: 3.309504898067249e-4
allele num: 120864
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2616+24A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.339+24A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-536A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-2218A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.253+24A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.687+24A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2439+24A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2616+24A>C
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9677
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-56491749-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56491749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56491749
    reference: chr 12
allele count: 2
allele frequency: 1.654834599281802e-5
allele num: 120858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-535G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2616+25G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.253+25G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-2217G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2439+25G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.687+25G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2616+25G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.339+25G>T
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4237
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

12-56491751-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56491751
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56491751
    reference: chr 12
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.339+27C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2439+27C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2616+27C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-2215C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.253+27C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.687+27C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2616+27C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-533C>G
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5103
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

12-56491751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56491751
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56491751
    reference: chr 12
allele count: 3
allele frequency: 2.483649308717609e-5
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.687+27C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2439+27C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-2215C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.253+27C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2616+27C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.339+27C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2616+27C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-533C>T
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-56491752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56491752
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56491752
    reference: chr 12
allele count: 4
allele frequency: 3.311532411623479e-5
allele num: 120790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.339+28G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2439+28G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.253+28G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.687+28G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-532G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2616+28G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-2214G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2616+28G>A
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24790
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-56491753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56491753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56491753
    reference: chr 12
allele count: 30
allele frequency: 2.48373155829318e-4
allele num: 120786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.253+29G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2616+29G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.339+29G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-531G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2439+29G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-2213G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.687+29G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2616+29G>A
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-56491753-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56491753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56491753
    reference: chr 12
allele count: 2
allele frequency: 1.65582103886212e-5
allele num: 120786
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-531G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-2213G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.687+29G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.339+29G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.253+29G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2616+29G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2439+29G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2616+29G>C
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-56491756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56491756
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56491756
    reference: chr 12
allele count: 9
allele frequency: 7.455638948257866e-5
allele num: 120714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2616+32G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.339+32G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.253+32G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-2210G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2616+32G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2439+32G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.687+32G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-528G>A
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-56492233-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492233
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492233
    reference: chr 12
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-258T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.254-51T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1733T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.688-51T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2617-51T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2440-51T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-51T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2617-51T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.340-51T>C
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-56492235-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492235
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492235
    reference: chr 12
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-49A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-256A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2440-49A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.340-49A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.688-49A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2617-49A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1731A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2617-49A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.254-49A>C
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12881
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-56492240-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492240
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492240
    reference: chr 12
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.688-44A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2617-44A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-251A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2617-44A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.254-44A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.340-44A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-44A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2440-44A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1726A>G
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-56492242-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492242
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492242
    reference: chr 12
allele count: 2
allele frequency: 1.65144584083365e-5
allele num: 121106
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2617-42T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.688-42T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-42T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-249T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1724T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2440-42T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.254-42T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2617-42T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.340-42T>C
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-56492247-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492247
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492247
    reference: chr 12
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-244G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.688-37G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1719G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2617-37G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-37G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2440-37G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2617-37G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.254-37G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.340-37G>T
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

12-56492258-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492258
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492258
    reference: chr 12
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-26G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2617-26G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-233G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2440-26G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1708G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.688-26G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.340-26G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2617-26G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.254-26G>C
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-56492265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492265
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492265
    reference: chr 12
allele count: 3
allele frequency: 2.474594166556685e-5
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-19C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-226C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2617-19C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1701C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2440-19C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2617-19C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.340-19C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.688-19C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.254-19C>T
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6768
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

12-56492279-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492279
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492279
    reference: chr 12
allele count: 5
allele frequency: 4.121264074116813e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-212C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.688-5C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.254-5C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2617-5C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1687C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-5C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2617-5C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.340-5C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2440-5C>T
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
hgvs: c.2617-5C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

12-56492280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492280
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492280
    reference: chr 12
allele count: 14
allele frequency: 1.153877853787192e-4
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.340-4G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.538-4G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2440-4G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.254-4G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.688-4G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2617-4G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2617-4G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-211G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1686G>A
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.2617-4G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

12-56492290-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492290
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492290
    reference: chr 12
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-201A>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.544A>T
  hgvsp: ENSP00000448946.2:p.Ile182Phe
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1676A>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2446A>T
  hgvsp: ENSP00000408340.2:p.Ile816Phe
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2623A>T
  hgvsp: ENSP00000267101.3:p.Ile875Phe
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.346A>T
  hgvsp: ENSP00000449129.1:p.Ile116Phe
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2623A>T
  hgvsp: ENSP00000448483.1:p.Ile875Phe
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.694A>T
  hgvsp: ENSP00000399178.2:p.Ile232Phe
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.260A>T
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile875Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-56492310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492310
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492310
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-181G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.714G>A
  hgvsp: ENST00000450146.2:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2466G>A
  hgvsp: ENST00000415288.2:c.2466G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2643G>A
  hgvsp: ENST00000551085.1:c.2643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.564G>A
  hgvsp: ENST00000550070.2:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.366G>A
  hgvsp: ENST00000553131.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1656G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.280G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2643G>A
  hgvsp: ENST00000267101.3:c.2643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu881Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-56492310-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492310
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492310
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.714G>C
  hgvsp: ENSP00000399178.2:p.Glu238Asp
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2643G>C
  hgvsp: ENSP00000267101.3:p.Glu881Asp
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2643G>C
  hgvsp: ENSP00000448483.1:p.Glu881Asp
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.564G>C
  hgvsp: ENSP00000448946.2:p.Glu188Asp
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-181G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.366G>C
  hgvsp: ENSP00000449129.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2466G>C
  hgvsp: ENSP00000408340.2:p.Glu822Asp
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.280G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1656G>C
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu881Asp
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-56492316-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492316
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492316
    reference: chr 12
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.570C>A
  hgvsp: ENST00000550070.2:c.570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.372C>A
  hgvsp: ENST00000553131.1:c.372C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1650C>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.286C>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2649C>A
  hgvsp: ENST00000267101.3:c.2649C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2649C>A
  hgvsp: ENST00000551085.1:c.2649C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-175C>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2472C>A
  hgvsp: ENST00000415288.2:c.2472C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.720C>A
  hgvsp: ENST00000450146.2:c.720C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile883Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-56492316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492316
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492316
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2649C>T
  hgvsp: ENST00000267101.3:c.2649C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2649C>T
  hgvsp: ENST00000551085.1:c.2649C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-175C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.720C>T
  hgvsp: ENST00000450146.2:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2472C>T
  hgvsp: ENST00000415288.2:c.2472C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.286C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.372C>T
  hgvsp: ENST00000553131.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.570C>T
  hgvsp: ENST00000550070.2:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1650C>T
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile883Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-56492340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492340
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492340
    reference: chr 12
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2496G>A
  hgvsp: ENST00000415288.2:c.2496G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.744G>A
  hgvsp: ENST00000450146.2:c.744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1626G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2673G>A
  hgvsp: ENST00000267101.3:c.2673G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.594G>A
  hgvsp: ENST00000550070.2:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.396G>A
  hgvsp: ENST00000553131.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2673G>A
  hgvsp: ENST00000551085.1:c.2673G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.310G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-151G>A
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln891Gln
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-56492343-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492343
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492343
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.313T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.399T>C
  hgvsp: ENST00000553131.1:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2676T>C
  hgvsp: ENST00000267101.3:c.2676T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2499T>C
  hgvsp: ENST00000415288.2:c.2499T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.597T>C
  hgvsp: ENST00000550070.2:c.597T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1623T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-148T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2676T>C
  hgvsp: ENST00000551085.1:c.2676T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.747T>C
  hgvsp: ENST00000450146.2:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser892Ser
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

12-56492364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492364
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492364
    reference: chr 12
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.329+5G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.613+5G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2692+5G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.763+5G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1602G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2515+5G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-127G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.415+5G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2697G>A
  hgvsp: ENST00000551085.1:c.2697G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23405
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.2692+5G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

12-56492389-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492389
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492389
    reference: chr 12
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.415+30T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1577T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.763+30T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.613+30T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2692+30T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2722T>C
  hgvsp: ENSP00000448483.1:p.Ser908Pro
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2515+30T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-102T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.329+30T>C
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser908Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-56492395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492395
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492395
    reference: chr 12
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.329+36G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1571G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-96G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2515+36G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.763+36G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.415+36G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2728G>A
  hgvsp: ENSP00000448483.1:p.Ala910Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.613+36G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2692+36G>A
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6733
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala910Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

12-56492405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492405
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492405
    reference: chr 12
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.613+46C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2692+46C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1561C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.763+46C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-86C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.415+46C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2738C>T
  hgvsp: ENSP00000448483.1:p.Ser913Leu
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.329+46C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2515+46C>T
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser913Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

12-56492414-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492414
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492413
    reference: chr 12
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.763+59delT
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2692+59delT
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2751delT
  hgvsp: ENSP00000448483.1:p.Phe917LeufsTer16
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.613+59delT
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-73delT
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2515+59delT
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.415+59delT
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1548delT
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.329+59delT
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21759
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe917LeufsTer16
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: CT
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

12-56492419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492419
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492419
    reference: chr 12
allele count: 5
allele frequency: 4.124119500486646e-5
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1547G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.613+60G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2752G>A
  hgvsp: ENSP00000448483.1:p.Glu918Lys
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2692+60G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.329+60G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.763+60G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-72G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2515+60G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.415+60G>A
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8861
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu918Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/12-56492422-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492422
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492423
    reference: chr 12
allele count: 274
allele frequency: 2.260688767512087e-3
allele num: 121202
alternate allele: AC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2692+68dupC
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-64dupC
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1539dupC
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.415+68dupC
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2760dupC
  hgvsp: ENSP00000448483.1:p.Ser921LeufsTer32
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.763+68dupC
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.329+68dupC
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2515+68dupC
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.613+68dupC
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 4.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8849
  bin: 4.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 3.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 3.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser921LeufsTer32
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/12-56492423-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492423
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492424
    reference: chr 12
allele count: 2
allele frequency: 1.657467720816137e-5
allele num: 120666
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2515+64_2515+65insA
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.763+64_763+65insA
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-68_-67insA
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1543_989-1542insA
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.613+64_613+65insA
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2692+64_2692+65insA
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.415+64_415+65insA
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.329+64_329+65insA
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2756_2757insA
  hgvsp: ENSP00000448483.1:p.Ser921LeufsTer32
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser921LeufsTer32
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-56492424-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492424
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492424
    reference: chr 12
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.2757C>G
  hgvsp: ENST00000551085.1:c.2757C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2692+65C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2515+65C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.763+65C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1542C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.415+65C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.613+65C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-67C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.329+65C>G
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr919Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-56492436-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492436
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492436
    reference: chr 12
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.415+77T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-55T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*3T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.329+77T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.763+77T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1530T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.613+77T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2692+77T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2515+77T>A
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD

12-56492440-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492440
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492440
    reference: chr 12
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.613+81T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.763+81T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.415+81T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.329+81T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-51T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2692+81T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1526T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2515+81T>C
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

12-56492444-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492444
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492444
    reference: chr 12
allele count: 6
allele frequency: 4.948943400583975e-5
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2692+85C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1522C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.415+85C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*11C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.763+85C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.329+85C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2515+85C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.613+85C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-47C>G
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11348
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-56492451-GATTTTTGTGTTAGATCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492451
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492434
    reference: chr 12
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: GATTTTTGTGTTAGATCA
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-56492452-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492452
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492452
    reference: chr 12
allele count: 2
allele frequency: 1.649294102124291e-5
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*19A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-91A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-91A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-91A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1514A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-91A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-39A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-91A>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-91A>C
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

12-56492463-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492463
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492463
    reference: chr 12
allele count: 65
allele frequency: 5.357643296351857e-4
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-28A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-80A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-80A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-80A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-80A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-80A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1503A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-80A>G
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11168
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 23867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-56492464-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492464
    reference: chr 12
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-79G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-79G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-79G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-27G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*31G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1502G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-79G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-79G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-79G>C
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-56492468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492468
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492468
    reference: chr 12
allele count: 10
allele frequency: 8.241169586787757e-5
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-75A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-75A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-23A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-75A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-75A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-75A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*35A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1498A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-75A>G
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

12-56492475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492475
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492475
    reference: chr 12
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*42G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1491G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-68G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-68G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-68G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-68G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-68G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-68G>A
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13003
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-56492476-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492476
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492476
    reference: chr 12
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1490C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-15C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-67C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-67C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-67C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-67C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*43C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-67C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-67C>G
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-56492480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492480
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492480
    reference: chr 12
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-63C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*47C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-63C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-63C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-63C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1486C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-63C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-63C>T
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

12-56492481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492481
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492481
    reference: chr 12
allele count: 5
allele frequency: 4.119498409873614e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-62C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1485C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-62C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-62C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-62C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-62C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-62C>T
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

12-56492496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492496
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492496
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-47C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-47C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-47C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-47C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1470C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*63C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.6C>T
  hgvsp: ENST00000549832.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-47C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-47C>T
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro2Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-56492497-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492497
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492497
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1469A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-46A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-46A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-46A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*64A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-46A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.7A>G
  hgvsp: ENSP00000448729.1:p.Met3Val
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-46A>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-46A>G
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met3Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-56492498-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492498
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492498
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.8T>A
  hgvsp: ENSP00000448729.1:p.Met3Lys
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-45T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*65T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-45T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-45T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-45T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-45T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1468T>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-45T>A
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4281
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met3Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

12-56492501-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492501
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492501
    reference: chr 12
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-42C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-42C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-42C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1465C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-42C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*68C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.11C>G
  hgvsp: ENSP00000448729.1:p.Ser4Cys
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-42C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-42C>G
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser4Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

12-56492520-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492520
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492520
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1446T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-23T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-23T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-23T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*87T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-23T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-23T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.30T>C
  hgvsp: ENST00000549832.1:c.30T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-23T>C
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4278
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr10Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-56492536-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492536
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492536
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2516-7G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.46G>C
  hgvsp: ENSP00000448729.1:p.Ala16Pro
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.416-7G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*103G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.614-7G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2693-7G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1430G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.330-7G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.764-7G>C
  variant of: http://identifiers.org/hgnc/3431
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala16Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

12-56492551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492551
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492551
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*118G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.424G>A
  hgvsp: ENSP00000449129.1:p.Val142Ile
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.772G>A
  hgvsp: ENSP00000399178.2:p.Val258Ile
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2701G>A
  hgvsp: ENSP00000267101.3:p.Val901Ile
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1415G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.622G>A
  hgvsp: ENSP00000448946.2:p.Val208Ile
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.338G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.61G>A
  hgvsp: ENSP00000448729.1:p.Val21Ile
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2524G>A
  hgvsp: ENSP00000408340.2:p.Val842Ile
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val901Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-56492551-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492551
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492551
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.424G>C
  hgvsp: ENSP00000449129.1:p.Val142Leu
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.772G>C
  hgvsp: ENSP00000399178.2:p.Val258Leu
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.622G>C
  hgvsp: ENSP00000448946.2:p.Val208Leu
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.61G>C
  hgvsp: ENSP00000448729.1:p.Val21Leu
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2701G>C
  hgvsp: ENSP00000267101.3:p.Val901Leu
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2524G>C
  hgvsp: ENSP00000408340.2:p.Val842Leu
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.338G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*118G>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1415G>C
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val901Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-56492559-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492559
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492559
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1407G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.346G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.432G>A
  hgvsp: ENST00000553131.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2532G>A
  hgvsp: ENST00000415288.2:c.2532G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.630G>A
  hgvsp: ENST00000550070.2:c.630G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.780G>A
  hgvsp: ENST00000450146.2:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2709G>A
  hgvsp: ENST00000267101.3:c.2709G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.69G>A
  hgvsp: ENST00000549832.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu903Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

12-56492560-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492560
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.347T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.433T>C
  hgvsp: ENST00000553131.1:c.433T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.70T>C
  hgvsp: ENST00000549832.1:c.70T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1406T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*127T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2710T>C
  hgvsp: ENST00000267101.3:c.2710T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2533T>C
  hgvsp: ENST00000415288.2:c.2533T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.631T>C
  hgvsp: ENST00000550070.2:c.631T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.781T>C
  hgvsp: ENST00000450146.2:c.781T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu904Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

12-56492564-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492564
    reference: chr 12
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.785T>C
  hgvsp: ENSP00000399178.2:p.Met262Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.635T>C
  hgvsp: ENSP00000448946.2:p.Met212Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.437T>C
  hgvsp: ENSP00000449129.1:p.Met146Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2714T>C
  hgvsp: ENSP00000267101.3:p.Met905Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2537T>C
  hgvsp: ENSP00000408340.2:p.Met846Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*131T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.74T>C
  hgvsp: ENSP00000448729.1:p.Met25Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1402T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.351T>C
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met905Thr
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: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-56492567-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492567
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492567
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.638C>G
  hgvsp: ENSP00000448946.2:p.Thr213Ser
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2540C>G
  hgvsp: ENSP00000408340.2:p.Thr847Ser
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.77C>G
  hgvsp: ENSP00000448729.1:p.Thr26Ser
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.788C>G
  hgvsp: ENSP00000399178.2:p.Thr263Ser
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1399C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2717C>G
  hgvsp: ENSP00000267101.3:p.Thr906Ser
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.354C>G
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.440C>G
  hgvsp: ENSP00000449129.1:p.Thr147Ser
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*134C>G
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6679
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr906Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-56492571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492571
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492571
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2544C>T
  hgvsp: ENST00000415288.2:c.2544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.358C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.792C>T
  hgvsp: ENST00000450146.2:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.81C>T
  hgvsp: ENST00000549832.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1395C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.444C>T
  hgvsp: ENST00000553131.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2721C>T
  hgvsp: ENST00000267101.3:c.2721C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*138C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.642C>T
  hgvsp: ENST00000550070.2:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5123
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe907Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-56492581-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492581
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*148C>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.368C>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.652C>A
  hgvsp: ENSP00000448946.2:p.Pro218Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1385C>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2554C>A
  hgvsp: ENSP00000408340.2:p.Pro852Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.802C>A
  hgvsp: ENSP00000399178.2:p.Pro268Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.91C>A
  hgvsp: ENSP00000448729.1:p.Pro31Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2731C>A
  hgvsp: ENSP00000267101.3:p.Pro911Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.454C>A
  hgvsp: ENSP00000449129.1:p.Pro152Thr
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro911Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-56492587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492587
    reference: chr 12
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.97G>A
  hgvsp: ENSP00000448729.1:p.Ala33Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.374G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2560G>A
  hgvsp: ENSP00000408340.2:p.Ala854Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.460G>A
  hgvsp: ENSP00000449129.1:p.Ala154Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1379G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2737G>A
  hgvsp: ENSP00000267101.3:p.Ala913Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.808G>A
  hgvsp: ENSP00000399178.2:p.Ala270Thr
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*154G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.658G>A
  hgvsp: ENSP00000448946.2:p.Ala220Thr
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala913Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

12-56492592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492592
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492592
    reference: chr 12
allele count: 13
allele frequency: 1.070751997364303e-4
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*159G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2565G>A
  hgvsp: ENST00000415288.2:c.2565G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.465G>A
  hgvsp: ENST00000553131.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2742G>A
  hgvsp: ENST00000267101.3:c.2742G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.813G>A
  hgvsp: ENST00000450146.2:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.663G>A
  hgvsp: ENST00000550070.2:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.102G>A
  hgvsp: ENST00000549832.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1374G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.379G>A
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly914Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-56492596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492596
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492596
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2746C>T
  hgvsp: ENSP00000267101.3:p.Arg916Ter
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*163C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.469C>T
  hgvsp: ENSP00000449129.1:p.Arg157Ter
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.106C>T
  hgvsp: ENSP00000448729.1:p.Arg36Ter
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.667C>T
  hgvsp: ENSP00000448946.2:p.Arg223Ter
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1370C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2569C>T
  hgvsp: ENSP00000408340.2:p.Arg857Ter
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.817C>T
  hgvsp: ENSP00000399178.2:p.Arg273Ter
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.383C>T
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg916Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-56492597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492597
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492597
    reference: chr 12
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.107G>A
  hgvsp: ENSP00000448729.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.668G>A
  hgvsp: ENSP00000448946.2:p.Arg223Gln
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2570G>A
  hgvsp: ENSP00000408340.2:p.Arg857Gln
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1369G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.818G>A
  hgvsp: ENSP00000399178.2:p.Arg273Gln
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.470G>A
  hgvsp: ENSP00000449129.1:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*164G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.384G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2747G>A
  hgvsp: ENSP00000267101.3:p.Arg916Gln
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg916Gln
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

12-56492599-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492599
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492599
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2572T>C
  hgvsp: ENST00000415288.2:c.2572T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.670T>C
  hgvsp: ENST00000550070.2:c.670T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2749T>C
  hgvsp: ENST00000267101.3:c.2749T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*166T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1367T>C
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.472T>C
  hgvsp: ENST00000553131.1:c.472T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.109T>C
  hgvsp: ENST00000549832.1:c.109T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.820T>C
  hgvsp: ENST00000450146.2:c.820T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.386T>C
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24230
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu917Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-56492616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492616
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492616
    reference: chr 12
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2766C>T
  hgvsp: ENST00000267101.3:c.2766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1350C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.687C>T
  hgvsp: ENST00000550070.2:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2589C>T
  hgvsp: ENST00000415288.2:c.2589C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.126C>T
  hgvsp: ENST00000549832.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.489C>T
  hgvsp: ENST00000553131.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.403C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*183C>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.837C>T
  hgvsp: ENST00000450146.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp922Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-56492619-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492619
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492619
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.690G>T
  hgvsp: ENST00000550070.2:c.690G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.840G>T
  hgvsp: ENST00000450146.2:c.840G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.129G>T
  hgvsp: ENST00000549832.1:c.129G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1347G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*186G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.492G>T
  hgvsp: ENST00000553131.1:c.492G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2592G>T
  hgvsp: ENST00000415288.2:c.2592G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.406G>T
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2769G>T
  hgvsp: ENST00000267101.3:c.2769G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu923Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

12-56492629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56492629
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56492629
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000408340
  ensembl transcript: ENST00000415288
  gene symbol: ERBB3
  hgvsc: ENST00000415288.2:c.2602G>A
  hgvsp: ENSP00000408340.2:p.Gly868Arg
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448483
  ensembl transcript: ENST00000551085
  gene symbol: ERBB3
  hgvsc: ENST00000551085.1:c.*196G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065361
  ensembl transcript: ENST00000548709
  gene symbol: ERBB3
  hgvsc: ENST00000548709.1:n.416G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000447510
  ensembl transcript: ENST00000551242
  gene symbol: ERBB3
  hgvsc: ENST00000551242.1:c.989-1337G>A
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000449129
  ensembl transcript: ENST00000553131
  gene symbol: ERBB3
  hgvsc: ENST00000553131.1:c.502G>A
  hgvsp: ENSP00000449129.1:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000399178
  ensembl transcript: ENST00000450146
  gene symbol: ERBB3
  hgvsc: ENST00000450146.2:c.850G>A
  hgvsp: ENSP00000399178.2:p.Gly284Arg
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448946
  ensembl transcript: ENST00000550070
  gene symbol: ERBB3
  hgvsc: ENST00000550070.2:c.700G>A
  hgvsp: ENSP00000448946.2:p.Gly234Arg
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000448729
  ensembl transcript: ENST00000549832
  gene symbol: ERBB3
  hgvsc: ENST00000549832.1:c.139G>A
  hgvsp: ENSP00000448729.1:p.Gly47Arg
  variant of: http://identifiers.org/hgnc/3431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065361
  ensembl protein: ENSP00000267101
  ensembl transcript: ENST00000267101
  gene symbol: ERBB3
  hgvsc: ENST00000267101.3:c.2779G>A
  hgvsp: ENSP00000267101.3:p.Gly927Arg
  variant of: http://identifiers.org/hgnc/3431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly927Arg
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 5189
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4050
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2298
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3881
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25966
bin: 9.75e1
variant carriers: 1625

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

GenotypeQuality
all individuals: 11210
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 15
allele frequency: 1.65929203539823e-2
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 23
allele frequency: 3.479576399394856e-3
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 548
allele frequency: 8.242336732545198e-3
allele num: 66486
num of homozygotes: 6

South Asian
type: Population
allele count: 591
allele frequency: 3.587471166686901e-2
allele num: 16474
num of homozygotes: 15

Latino
type: Population
allele count: 216
allele frequency: 1.86786579038395e-2
allele num: 11564
num of homozygotes: 2

African
type: Population
allele count: 23
allele frequency: 2.226955848179706e-3
allele num: 10328
num of homozygotes: 1

East Asian
type: Population
allele count: 240
allele frequency: 2.780352177942539e-2
allele num: 8632
num of homozygotes: 3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 1.711e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.161e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

QD
type: SiteQuality
SIO_000300: 1.313e1

DP
type: SiteQuality
SIO_000300: 2.611054e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 25966
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3881
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4050
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11210
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.161e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-2

DP
type: SiteQuality
SIO_000300: 2.611054e6

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

FS
type: SiteQuality
SIO_000300: 1.711e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-3

GenotypeQuality
all individuals: 4245
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11390
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3997
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.299e0

QD
type: SiteQuality
SIO_000300: 1.216e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 3.133e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-1

DP
type: SiteQuality
SIO_000300: 2.554524e6

GenotypeQuality
all individuals: 3992
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24844
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 2347
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 36
allele frequency: 3.495145631067961e-3
allele num: 10300
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.518752824220515e-5
allele num: 66390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

DP
type: SiteQuality
SIO_000300: 2.544985e6

FS
type: SiteQuality
SIO_000300: 4.135e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.178e0

QD
type: SiteQuality
SIO_000300: 1.177e1

GenotypeQuality
all individuals: 5147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4143
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24816
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10695
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214919207872676e-4
allele num: 16462
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.540949e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

FS
type: SiteQuality
SIO_000300: 3.087e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.04e-1

GenotypeQuality
all individuals: 403
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24799
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4131
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

DP
type: SiteQuality
SIO_000300: 2.538666e6

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

FS
type: SiteQuality
SIO_000300: 2.595e0

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10639
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 24799
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.520523175215478e-5
allele num: 66364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 2.595e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

DP
type: SiteQuality
SIO_000300: 2.538666e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
all individuals: 4212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4129
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10687
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2342
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.460207612456747e-4
allele num: 11560
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.307e0

FS
type: SiteQuality
SIO_000300: 1.8075e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

DP
type: SiteQuality
SIO_000300: 2.535745e6

GenotypeQuality
all individuals: 4205
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24788
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 475
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10309
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4127
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3989
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507295309296997e-5
allele num: 66344
num of homozygotes: 0

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

African
type: Population
allele count: 29
allele frequency: 2.819914430182808e-3
allele num: 10284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.5298e6

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.316423442205235e-4
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

DP
type: SiteQuality
SIO_000300: 2.5298e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10262
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.562008469449486e-4
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.032636563810213e-5
allele num: 66306
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 1.806e0

QD
type: SiteQuality
SIO_000300: 1.385e1

MQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.755e0

DP
type: SiteQuality
SIO_000300: 2.520769e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.815e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.498173e6

FS
type: SiteQuality
SIO_000300: 6.743e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.755e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.587e0

QD
type: SiteQuality
SIO_000300: 1.707e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

VQSLOD
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.499179e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

QD
type: SiteQuality
SIO_000300: 1.009e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.516e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.398e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.498999e6

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.1932e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
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SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
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QD
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ReadPosRankSum
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SIO_000300: 1.54e0

BaseQRankSum
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SIO_000300: -9.409999999999999e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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DP
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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SIO_000300: -3.3e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
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South Asian
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.49707690001499e-5
allele num: 66710
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African
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allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
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Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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DP
type: SiteQuality
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MQRankSum
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SIO_000300: 1.14e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
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South Asian
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allele num: 16508
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African
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allele count: 0
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Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
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Other
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allele count: 1
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European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

East Asian
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Latino
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
type: SiteQuality
SIO_000300: -1.77e-1

MQ
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SIO_000300: 5.881e1

ReadPosRankSum
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SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

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

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

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.091e0

ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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SIO_000300: 2.02e-1

MQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -8.169999999999999e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.478e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

InbreedingCoeff
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SIO_000300: -2.0e-4

DP
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SIO_000300: 2.505109e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.502761e6

ClippingRankSum
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BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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African
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Other
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ReadPosRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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European (Finnish)
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East Asian
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QD
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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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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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 201
allele frequency: 3.015482477196351e-3
allele num: 66656
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.825323296660876e-4
allele num: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.523809523809524e-4
allele num: 11550
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 53
allele frequency: 3.211731911283481e-3
allele num: 16502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

DP
type: SiteQuality
SIO_000300: 2.489105e6

VQSLOD
type: SiteQuality
SIO_000300: 6.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.175e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 9.25e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.219809709685289e-4
allele num: 16396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.378e1

MQ
type: SiteQuality
SIO_000300: 5.903e1

DP
type: SiteQuality
SIO_000300: 2.490818e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 5.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 407
bin: 3.75e1
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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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.849e-1

QD
type: SiteQuality
SIO_000300: 7.98e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 2.488811e6

GenotypeQuality
all individuals: 6
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1827
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variant carriers: 0

GenotypeQuality
all individuals: 22872
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.49101e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.383e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.367e0

FS
type: SiteQuality
SIO_000300: 1.032e1

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1825
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 155
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 12885
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.492134e6

FS
type: SiteQuality
SIO_000300: 2.629e0

QD
type: SiteQuality
SIO_000300: 1.832e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.011e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4320
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 118
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12916
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4016
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variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.999820003599928e-5
allele num: 66668
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.009e0

FS
type: SiteQuality
SIO_000300: 3.857e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e-1

DP
type: SiteQuality
SIO_000300: 2.494556e6

QD
type: SiteQuality
SIO_000300: 1.723e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 108
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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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variant carriers: 0

GenotypeQuality
all individuals: 5101
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.04e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: -6.281e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.08e-1

QD
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 2.326e0

VQSLOD
type: SiteQuality
SIO_000300: -5.029e-1

DP
type: SiteQuality
SIO_000300: 2.497265e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

GenotypeQuality
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bin: 2.25e1
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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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.321e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.715e0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.498e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 2.497504e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 65

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 61
allele frequency: 5.882352941176471e-3
allele num: 10370
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.593360995850622e-4
allele num: 11568
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

FS
type: SiteQuality
SIO_000300: 5.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 2.501851e6

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.582e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.3778e1

MQRankSum
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SIO_000300: -7.61e-1

ClippingRankSum
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SIO_000300: -2.181e0

VQSLOD
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ReadPosRankSum
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SIO_000300: 9.389999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.501173e6

QD
type: SiteQuality
SIO_000300: 1.506e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 6.056201550387597e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66716
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -7.61e-1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 6.45e-1

DP
type: SiteQuality
SIO_000300: 2.502056e6

VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
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
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.842e0

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.50294e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 1.409e0

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.588e1

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

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

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

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

Other
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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
allele num: 16512
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African
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allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 5.777675063554426e-4
allele num: 8654
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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South Asian
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Latino
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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DP
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MQ
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QD
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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num of homozygotes: 0

South Asian
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African
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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

VQSLOD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 2.462e0

DP
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SIO_000300: 2.504308e6

ReadPosRankSum
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SIO_000300: -1.54e-1

MQRankSum
type: SiteQuality
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

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

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

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

QD
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SIO_000300: 1.354e1

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

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

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Other
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num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

European (Non-Finnish)
type: Population
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

Other
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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DP
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

Other
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num of homozygotes: 0

Latino
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South Asian
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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ClippingRankSum
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SIO_000300: -4.1e-1

FS
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SIO_000300: 0.0e0

QD
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DP
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SIO_000300: 2.505379e6

MQRankSum
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SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
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

FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
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Other
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allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -3.99e-1

MQRankSum
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InbreedingCoeff
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MQ
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FS
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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QD
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.48e0

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

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

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66740
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African
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South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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ClippingRankSum
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SIO_000300: -7.4e-2

ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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Latino
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allele frequency: 1.122819139747797e-3
allele num: 11578
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European (Non-Finnish)
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Other
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European (Finnish)
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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InbreedingCoeff
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
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Other
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South Asian
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East Asian
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QD
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MQ
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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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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Latino
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DP
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ClippingRankSum
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QD
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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InbreedingCoeff
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DP
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

MQ
type: SiteQuality
SIO_000300: 5.84e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 1.102e0

QD
type: SiteQuality
SIO_000300: 1.645e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

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

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

GenotypeQuality
all individuals: 4012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4265
bin: 9.75e1
variant carriers: 4

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

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

GenotypeQuality
all individuals: 1821
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6675
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 13044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5125
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.924e1

FS
type: SiteQuality
SIO_000300: 1.137e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 2.505326e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.262e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

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

GenotypeQuality
all individuals: 6675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24227
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4012
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1515
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4262
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5126
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.21e1

MQ
type: SiteQuality
SIO_000300: 5.827e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.263e0

VQSLOD
type: SiteQuality
SIO_000300: -1.476e0

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

FS
type: SiteQuality
SIO_000300: 6.324e0

DP
type: SiteQuality
SIO_000300: 2.505077e6

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

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

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