8-99030387-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99030387
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99030387
    reference: chr 8
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1166+43C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.967+43C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1819+43C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1696+43C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+43C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1819+43C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.373+39C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1819+43C>G
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25863
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51891
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-99030389-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99030389
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99030390
    reference: chr 8
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+46dupA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1696+46dupA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.373+42dupA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1819+46dupA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1166+46dupA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.967+46dupA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1819+46dupA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1819+46dupA
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25862
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51892
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

8-99030393-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99030393
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99030393
    reference: chr 8
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1819+49C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1819+49C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.967+49C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+49C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1819+49C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1696+49C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.373+45C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1166+49C>T
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25862
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

8-99030397-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99030397
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99030397
    reference: chr 8
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1696+53T>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.373+49T>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1819+53T>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.967+53T>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1819+53T>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1819+53T>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+53T>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1166+53T>G
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25862
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-99033387-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033387
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033387
    reference: chr 8
allele count: 1
allele frequency: 8.70958751393534e-6
allele num: 114816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1820-46C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.157C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.968-46C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1820-46C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1820-46C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3043C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.374-51C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1697-46C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1167-46C>G
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

8-99033387-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033387
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033387
    reference: chr 8
allele count: 2
allele frequency: 1.741917502787068e-5
allele num: 114816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1167-46C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1820-46C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1697-46C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.374-51C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1820-46C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3043C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.157C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1820-46C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.968-46C>T
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14848
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

8-99033406-T-TTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033406
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033408
    reference: chr 8
allele count: 2
allele frequency: 1.723276292888039e-5
allele num: 116058
alternate allele: TTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1820-25_1820-24dupGT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.968-25_968-24dupGT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.178_179dupGT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1697-25_1697-24dupGT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1820-25_1820-24dupGT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3064_242+3065dupGT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.374-30_374-29dupGT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1820-25_1820-24dupGT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1167-25_1167-24dupGT
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

8-99033410-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033410
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033410
    reference: chr 8
allele count: 1
allele frequency: 8.581775741036335e-6
allele num: 116526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.180T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1820-23T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.968-23T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.374-28T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1820-23T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3066T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1697-23T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1820-23T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1167-23T>C
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

8-99033413-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033413
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033413
    reference: chr 8
allele count: 1
allele frequency: 8.550955141689327e-6
allele num: 116946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1820-20A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1697-20A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1820-20A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.183A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3069A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1820-20A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.374-25A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1167-20A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.968-20A>G
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

8-99033416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033416
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033416
    reference: chr 8
allele count: 1
allele frequency: 8.519048592653172e-6
allele num: 117384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1820-17C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1167-17C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.374-22C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.968-17C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1820-17C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3072C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1820-17C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.186C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1697-17C>T
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

8-99033428-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033428
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033427
    reference: chr 8
allele count: 2
allele frequency: 1.680728763992067e-5
allele num: 118996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.968-4delT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.374-9delT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3085delT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1167-4delT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1697-4delT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1820-4delT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1820-4delT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.199delT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1820-4delT
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6866
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1820-4delT
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: CT
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

8-99033432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033432
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033432
    reference: chr 8
allele count: 1
allele frequency: 8.367920739054759e-6
allele num: 119504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.968-1G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1697-1G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1167-1G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.374-6G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.202G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1820-1G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1820-1G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1820-1G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3088G>A
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1820-1G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

8-99033439-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033439
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033439
    reference: chr 8
allele count: 1
allele frequency: 8.330001332800213e-6
allele num: 120048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1826A>G
  hgvsp: ENSP00000254898.5:p.Asp609Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.375A>G
  hgvsp: ENSP00000429256.1:p.Met126Val
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1826A>G
  hgvsp: ENSP00000430487.1:p.Asp609Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1826A>G
  hgvsp: ENSP00000429977.1:p.Asp609Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1173A>G
  hgvsp: ENSP00000429622.1:p.Asp392Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.974A>G
  hgvsp: ENSP00000429010.1:p.Asp325Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.209A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3095A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1703A>G
  hgvsp: ENSP00000430221.1:p.Asp568Gly
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp609Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

8-99033441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033441
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033441
    reference: chr 8
allele count: 1180
allele frequency: 9.822692083576126e-3
allele num: 120130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.976G>A
  hgvsp: ENSP00000429010.1:p.Val326Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1175G>A
  hgvsp: ENSP00000429622.1:p.Val393Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1828G>A
  hgvsp: ENSP00000430487.1:p.Val610Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1705G>A
  hgvsp: ENSP00000430221.1:p.Val569Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.211G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3097G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1828G>A
  hgvsp: ENSP00000254898.5:p.Val610Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1828G>A
  hgvsp: ENSP00000429977.1:p.Val610Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.377G>A
  hgvsp: ENSP00000429256.1:p.Met126Ile
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 2.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31228
  bin: 2.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 3.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 3.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 9.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 31180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val610Ile
num of homozygotes: 11
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-99033448-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033448
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033448
    reference: chr 8
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.983A>C
  hgvsp: ENSP00000429010.1:p.Lys328Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1182A>C
  hgvsp: ENSP00000429622.1:p.Lys395Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1712A>C
  hgvsp: ENSP00000430221.1:p.Lys571Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1835A>C
  hgvsp: ENSP00000430487.1:p.Lys612Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1835A>C
  hgvsp: ENSP00000254898.5:p.Lys612Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3104A>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.384A>C
  hgvsp: ENSP00000429256.1:p.Asn129His
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1835A>C
  hgvsp: ENSP00000429977.1:p.Lys612Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.218A>C
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8441
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys612Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-99033449-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033449
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033449
    reference: chr 8
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.219A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1836A>G
  hgvsp: ENST00000520016.1:c.1836A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.385A>G
  hgvsp: ENSP00000429256.1:p.Asn129Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1836A>G
  hgvsp: ENST00000254898.5:c.1836A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1836A>G
  hgvsp: ENST00000521689.1:c.1836A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1183A>G
  hgvsp: ENST00000518154.1:c.1183A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1713A>G
  hgvsp: ENST00000524308.1:c.1713A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3105A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.984A>G
  hgvsp: ENST00000522025.2:c.984A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8445
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn129Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

8-99033467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033467
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033467
    reference: chr 8
allele count: 3
allele frequency: 2.486984779653149e-5
allele num: 120628
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1854C>T
  hgvsp: ENST00000520016.1:c.1854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3123C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1002C>T
  hgvsp: ENST00000522025.2:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1201C>T
  hgvsp: ENST00000518154.1:c.1201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1731C>T
  hgvsp: ENST00000524308.1:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1854C>T
  hgvsp: ENST00000521689.1:c.1854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.403C>T
  hgvsp: ENSP00000429256.1:p.Ala135Val
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1854C>T
  hgvsp: ENST00000254898.5:c.1854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.237C>T
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala135Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

8-99033468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033468
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033468
    reference: chr 8
allele count: 7
allele frequency: 5.802579661129348e-5
allele num: 120636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1202G>A
  hgvsp: ENSP00000429622.1:p.Glu402Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1003G>A
  hgvsp: ENSP00000429010.1:p.Glu335Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1855G>A
  hgvsp: ENSP00000429977.1:p.Glu619Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1855G>A
  hgvsp: ENSP00000430487.1:p.Glu619Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1855G>A
  hgvsp: ENSP00000254898.5:p.Glu619Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.404G>A
  hgvsp: ENST00000521952.1:c.404G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.238G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3124G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1732G>A
  hgvsp: ENSP00000430221.1:p.Glu578Lys
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu619Lys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

8-99033472-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033472
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033472
    reference: chr 8
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1859A>G
  hgvsp: ENSP00000429977.1:p.His620Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1736A>G
  hgvsp: ENSP00000430221.1:p.His579Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1859A>G
  hgvsp: ENSP00000430487.1:p.His620Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1007A>G
  hgvsp: ENSP00000429010.1:p.His336Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1859A>G
  hgvsp: ENSP00000254898.5:p.His620Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.242A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3128A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1206A>G
  hgvsp: ENSP00000429622.1:p.His403Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.408A>G
  hgvsp: ENSP00000429256.1:p.Thr137Ala
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His620Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/8-99033499-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033499
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033499
    reference: chr 8
allele count: 2
allele frequency: 1.657220509761029e-5
allele num: 120684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.435A>C
  hgvsp: ENSP00000429256.1:p.Thr146Pro
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.269A>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3155A>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1034A>C
  hgvsp: ENSP00000429010.1:p.Tyr345Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1763A>C
  hgvsp: ENSP00000430221.1:p.Tyr588Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1233A>C
  hgvsp: ENSP00000429622.1:p.Tyr412Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1886A>C
  hgvsp: ENSP00000430487.1:p.Tyr629Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1886A>C
  hgvsp: ENSP00000429977.1:p.Tyr629Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1886A>C
  hgvsp: ENSP00000254898.5:p.Tyr629Ser
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr629Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-99033502-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033502
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033502
    reference: chr 8
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1236T>A
  hgvsp: ENSP00000429622.1:p.Ile413Asn
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3158T>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1766T>A
  hgvsp: ENSP00000430221.1:p.Ile589Asn
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1889T>A
  hgvsp: ENSP00000429977.1:p.Ile630Asn
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.438T>A
  hgvsp: ENSP00000429256.1:p.Ser147Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1889T>A
  hgvsp: ENSP00000254898.5:p.Ile630Asn
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1889T>A
  hgvsp: ENSP00000430487.1:p.Ile630Asn
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.272T>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1037T>A
  hgvsp: ENSP00000429010.1:p.Ile346Asn
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile630Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

8-99033510-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033510
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033510
    reference: chr 8
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3166T>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1045T>A
  hgvsp: ENSP00000429010.1:p.Cys349Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1897T>A
  hgvsp: ENSP00000429977.1:p.Cys633Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1897T>A
  hgvsp: ENSP00000430487.1:p.Cys633Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.280T>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1774T>A
  hgvsp: ENSP00000430221.1:p.Cys592Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.446T>A
  hgvsp: ENSP00000429256.1:p.Asn149Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1244T>A
  hgvsp: ENSP00000429622.1:p.Cys416Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1897T>A
  hgvsp: ENSP00000254898.5:p.Cys633Ser
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys633Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-99033512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033512
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033512
    reference: chr 8
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1899C>T
  hgvsp: ENST00000520016.1:c.1899C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1776C>T
  hgvsp: ENST00000524308.1:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.282C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1899C>T
  hgvsp: ENST00000254898.5:c.1899C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3168C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1899C>T
  hgvsp: ENST00000521689.1:c.1899C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.448C>T
  hgvsp: ENSP00000429256.1:p.Ala150Val
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1047C>T
  hgvsp: ENST00000522025.2:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1246C>T
  hgvsp: ENST00000518154.1:c.1246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4048
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala150Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS

8-99033520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033520
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033520
    reference: chr 8
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1784G>A
  hgvsp: ENSP00000430221.1:p.Gly595Glu
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.456G>A
  hgvsp: ENSP00000429256.1:p.Asp153Asn
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1055G>A
  hgvsp: ENSP00000429010.1:p.Gly352Glu
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1907G>A
  hgvsp: ENSP00000430487.1:p.Gly636Glu
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1907G>A
  hgvsp: ENSP00000429977.1:p.Gly636Glu
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.290G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1254G>A
  hgvsp: ENSP00000429622.1:p.Gly419Glu
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3176G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1907G>A
  hgvsp: ENSP00000254898.5:p.Gly636Glu
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly636Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

8-99033525-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033525
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033525
    reference: chr 8
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1912G>T
  hgvsp: ENSP00000429977.1:p.Val638Phe
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1912G>T
  hgvsp: ENSP00000254898.5:p.Val638Phe
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.295G>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1060G>T
  hgvsp: ENSP00000429010.1:p.Val354Phe
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.461G>T
  hgvsp: ENSP00000429256.1:p.Leu154Phe
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1789G>T
  hgvsp: ENSP00000430221.1:p.Val597Phe
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1259G>T
  hgvsp: ENSP00000429622.1:p.Val421Phe
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1912G>T
  hgvsp: ENSP00000430487.1:p.Val638Phe
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3181G>T
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val638Phe
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

8-99033539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033539
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033539
    reference: chr 8
allele count: 8
allele frequency: 6.645732608948479e-5
allele num: 120378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1273C>T
  hgvsp: ENST00000518154.1:c.1273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1926C>T
  hgvsp: ENST00000520016.1:c.1926C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.309C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1926C>T
  hgvsp: ENST00000521689.1:c.1926C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1803C>T
  hgvsp: ENST00000524308.1:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1926C>T
  hgvsp: ENST00000254898.5:c.1926C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1074C>T
  hgvsp: ENST00000522025.2:c.1074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3195C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp642Asp
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

8-99033540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033540
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033540
    reference: chr 8
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1927G>A
  hgvsp: ENSP00000254898.5:p.Gly643Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1804G>A
  hgvsp: ENSP00000430221.1:p.Gly602Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1274G>A
  hgvsp: ENSP00000429622.1:p.Gly426Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3196G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1075G>A
  hgvsp: ENSP00000429010.1:p.Gly359Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1927G>A
  hgvsp: ENSP00000430487.1:p.Gly643Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1927G>A
  hgvsp: ENSP00000429977.1:p.Gly643Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.310G>A
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly643Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

8-99033543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033543
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033543
    reference: chr 8
allele count: 1
allele frequency: 8.312690152787244e-6
allele num: 120298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3199A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1078A>G
  hgvsp: ENSP00000429010.1:p.Arg360Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1277A>G
  hgvsp: ENSP00000429622.1:p.Arg427Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1807A>G
  hgvsp: ENSP00000430221.1:p.Arg603Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1930A>G
  hgvsp: ENSP00000254898.5:p.Arg644Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1930A>G
  hgvsp: ENSP00000429977.1:p.Arg644Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1930A>G
  hgvsp: ENSP00000430487.1:p.Arg644Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*12A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.313A>G
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg644Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

8-99033545-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033545
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033545
    reference: chr 8
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3201A>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1279A>T
  hgvsp: ENSP00000429622.1:p.Arg427Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*14A>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1932A>T
  hgvsp: ENSP00000254898.5:p.Arg644Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1809A>T
  hgvsp: ENSP00000430221.1:p.Arg603Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.315A>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1080A>T
  hgvsp: ENSP00000429010.1:p.Arg360Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1932A>T
  hgvsp: ENSP00000430487.1:p.Arg644Ser
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1932A>T
  hgvsp: ENSP00000429977.1:p.Arg644Ser
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30556
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg644Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

8-99033546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033546
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033546
    reference: chr 8
allele count: 16
allele frequency: 1.330340068179928e-4
allele num: 120270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.316C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1280C>T
  hgvsp: ENSP00000429622.1:p.Arg428Trp
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1933C>T
  hgvsp: ENSP00000254898.5:p.Arg645Trp
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3202C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1933C>T
  hgvsp: ENSP00000430487.1:p.Arg645Trp
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1933C>T
  hgvsp: ENSP00000429977.1:p.Arg645Trp
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1810C>T
  hgvsp: ENSP00000430221.1:p.Arg604Trp
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1081C>T
  hgvsp: ENSP00000429010.1:p.Arg361Trp
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg645Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

8-99033547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033547
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033547
    reference: chr 8
allele count: 9
allele frequency: 7.483411770575224e-5
allele num: 120266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1934G>A
  hgvsp: ENSP00000254898.5:p.Arg645Gln
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3203G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1934G>A
  hgvsp: ENSP00000429977.1:p.Arg645Gln
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1281G>A
  hgvsp: ENSP00000429622.1:p.Arg428Gln
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1934G>A
  hgvsp: ENSP00000430487.1:p.Arg645Gln
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1082G>A
  hgvsp: ENSP00000429010.1:p.Arg361Gln
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1811G>A
  hgvsp: ENSP00000430221.1:p.Arg604Gln
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.317G>A
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8539
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Arg645Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

8-99033557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033557
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033557
    reference: chr 8
allele count: 1
allele frequency: 8.330001332800213e-6
allele num: 120048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3213T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1942+2T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1090+2T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1819+2T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1942+2T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+2T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1289+2T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1942+2T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.325+2T>C
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1942+2T>C
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

8-99033574-GCTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033574
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033570
    reference: chr 8
allele count: 1
allele frequency: 8.360085607276618e-6
allele num: 119616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1819+22_1819+25delCTCT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1942+22_1942+25delCTCT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3233_242+3236delCTCT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.325+22_325+25delCTCT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1942+22_1942+25delCTCT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+22_*24+25delCTCT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1289+22_1289+25delCTCT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1090+22_1090+25delCTCT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1942+22_1942+25delCTCT
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 12442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7024
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: GCTCT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

8-99033577-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033577
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033577
    reference: chr 8
allele count: 2
allele frequency: 1.672800267648043e-5
allele num: 119560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1942+22C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1942+22C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1289+22C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.325+22C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1090+22C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3233C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1819+22C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1942+22C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+22C>T
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

8-99033581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033581
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033581
    reference: chr 8
allele count: 6
allele frequency: 5.022265376502495e-5
allele num: 119468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1942+26G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1819+26G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.325+26G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1289+26G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1942+26G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+26G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1090+26G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3237G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1942+26G>A
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

8-99033592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033592
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033592
    reference: chr 8
allele count: 1
allele frequency: 8.389684044498884e-6
allele num: 119194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1090+37G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1942+37G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1942+37G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1289+37G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3248G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.325+37G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1819+37G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1942+37G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+37G>A
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

8-99033597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033597
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033597
    reference: chr 8
allele count: 7
allele frequency: 5.884924504825638e-5
allele num: 118948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+42G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1819+42G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.325+42G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1942+42G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1942+42G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1942+42G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1090+42G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3253G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1289+42G>A
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6840
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

8-99033598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033598
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033598
    reference: chr 8
allele count: 320
allele frequency: 2.691518352790768e-3
allele num: 118892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1942+43G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1942+43G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.325+43G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1819+43G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1289+43G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1090+43G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3254G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+43G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1942+43G>A
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27712
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 8
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

8-99033605-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99033605
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99033605
    reference: chr 8
allele count: 1
allele frequency: 8.435117079425063e-6
allele num: 118552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1942+50T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+50T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1942+50T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.325+50T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1289+50T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1942+50T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.242+3261T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1090+50T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1819+50T>C
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

8-99037909-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99037909
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99037909
    reference: chr 8
allele count: 4
allele frequency: 1.805054151624549e-3
allele num: 2216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+4354A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1290-1735A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.326-1735A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1091-1735A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1943-1735A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1820-1735A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.243-1735A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1943-1735A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.298T>C
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1943-1735A>G
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

8-99037937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99037937
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99037937
    reference: chr 8
allele count: 6
allele frequency: 1.036627505183138e-3
allele num: 5788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.270C>T
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1820-1707G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.326-1707G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1091-1707G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1943-1707G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1943-1707G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.243-1707G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+4382G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1290-1707G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1943-1707G>A
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

8-99037952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99037952
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99037952
    reference: chr 8
allele count: 1
allele frequency: 1.369112814895947e-4
allele num: 7304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1290-1692C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1820-1692C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.255G>A
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.243-1692C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1091-1692C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1943-1692C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1943-1692C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1943-1692C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.326-1692C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+4397C>T
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

8-99037954-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99037954
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99037954
    reference: chr 8
allele count: 22
allele frequency: 2.920870950610728e-3
allele num: 7532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.326-1690A>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.253T>A
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1290-1690A>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1820-1690A>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1943-1690A>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+4399A>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.243-1690A>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1943-1690A>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1943-1690A>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1091-1690A>T
  variant of: http://identifiers.org/hgnc/6908
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-99037977-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99037977
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99037974
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 8306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1820-1658_1820-1656delGAA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.326-1658_326-1656delGAA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1943-1658_1943-1656delGAA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*24+4431_*24+4433delGAA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1943-1658_1943-1656delGAA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1091-1658_1091-1656delGAA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-14_241-12delCTT
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.243-1658_243-1656delGAA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1290-1658_1290-1656delGAA
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1943-1658_1943-1656delGAA
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: AAAG
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

8-99039602-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039602
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039603
    reference: chr 8
allele count: 1
allele frequency: 8.986179256303804e-6
allele num: 111282
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.243-36dupT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1943-36dupT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1943-36dupT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1943-36dupT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-3082dupT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1820-36dupT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1290-36dupT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1091-36dupT
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1637dupA
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.326-36dupT
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

8-99039610-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039610
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039610
    reference: chr 8
allele count: 1
allele frequency: 8.973116542837659e-6
allele num: 111444
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1943-34T>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.326-34T>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1820-34T>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.243-34T>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-3080T>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1644A>T
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1091-34T>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1943-34T>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1943-34T>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1290-34T>A
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-99039639-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039639
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039639
    reference: chr 8
allele count: 1
allele frequency: 8.701856976278738e-6
allele num: 114918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1820-5T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1091-5T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-3051T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1943-5T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1673A>G
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.243-5T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1290-5T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1943-5T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1943-5T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.326-5T>C
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1943-5T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

8-99039640-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039640
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039640
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 115078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1091-4A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1943-4A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1820-4A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1674T>C
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1943-4A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1290-4A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.243-4A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1943-4A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.326-4A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-3050A>G
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1943-4A>G
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: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

8-99039646-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039646
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039646
    reference: chr 8
allele count: 9
allele frequency: 7.764912946698187e-5
allele num: 115906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.328T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1945T>C
  hgvsp: ENSP00000430487.1:p.Cys649Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-3044T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1822T>C
  hgvsp: ENSP00000430221.1:p.Cys608Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.245T>C
  hgvsp: ENSP00000429885.1:p.Cys83Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1292T>C
  hgvsp: ENSP00000429622.1:p.Cys432Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1093T>C
  hgvsp: ENSP00000429010.1:p.Cys365Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1945T>C
  hgvsp: ENSP00000429977.1:p.Cys649Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1680A>G
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1945T>C
  hgvsp: ENSP00000254898.5:p.Cys649Arg
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys649Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

8-99039651-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039651
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039651
    reference: chr 8
allele count: 3
allele frequency: 2.563357656749321e-5
allele num: 117034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.250T>C
  hgvsp: ENST00000517321.1:c.250T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1950T>C
  hgvsp: ENST00000521689.1:c.1950T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.333T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1685A>G
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1297T>C
  hgvsp: ENST00000518154.1:c.1297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1950T>C
  hgvsp: ENST00000254898.5:c.1950T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1098T>C
  hgvsp: ENST00000522025.2:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1827T>C
  hgvsp: ENST00000524308.1:c.1827T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1950T>C
  hgvsp: ENST00000520016.1:c.1950T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-3039T>C
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr650Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

8-99039652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039652
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039652
    reference: chr 8
allele count: 1
allele frequency: 8.534607834769993e-6
allele num: 117170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1298G>A
  hgvsp: ENSP00000429622.1:p.Glu434Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.251G>A
  hgvsp: ENSP00000429885.1:p.Glu85Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1828G>A
  hgvsp: ENSP00000430221.1:p.Glu610Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-3038G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.334G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1951G>A
  hgvsp: ENSP00000430487.1:p.Glu651Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1099G>A
  hgvsp: ENSP00000429010.1:p.Glu367Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1951G>A
  hgvsp: ENSP00000429977.1:p.Glu651Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1951G>A
  hgvsp: ENSP00000254898.5:p.Glu651Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1686C>T
  variant of: http://identifiers.org/hgnc/10333
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu651Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/8-99039654-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039654
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039654
    reference: chr 8
allele count: 2
allele frequency: 1.703229322796021e-5
allele num: 117424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1953A>C
  hgvsp: ENSP00000254898.5:p.Glu651Asp
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1953A>C
  hgvsp: ENSP00000430487.1:p.Glu651Asp
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1101A>C
  hgvsp: ENSP00000429010.1:p.Glu367Asp
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.253A>C
  hgvsp: ENSP00000429885.1:p.Glu85Asp
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1688T>G
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1830A>C
  hgvsp: ENSP00000430221.1:p.Glu610Asp
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1953A>C
  hgvsp: ENSP00000429977.1:p.Glu651Asp
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1300A>C
  hgvsp: ENSP00000429622.1:p.Glu434Asp
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.336A>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-3036A>C
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu651Asp
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

8-99039661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039661
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039661
    reference: chr 8
allele count: 2
allele frequency: 1.687450431143585e-5
allele num: 118522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-3029A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1960A>G
  hgvsp: ENSP00000430487.1:p.Ile654Val
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1837A>G
  hgvsp: ENSP00000430221.1:p.Ile613Val
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.343A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1108A>G
  hgvsp: ENSP00000429010.1:p.Ile370Val
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1960A>G
  hgvsp: ENSP00000254898.5:p.Ile654Val
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1960A>G
  hgvsp: ENSP00000429977.1:p.Ile654Val
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.260A>G
  hgvsp: ENSP00000429885.1:p.Ile88Val
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1307A>G
  hgvsp: ENSP00000429622.1:p.Ile437Val
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1695T>C
  variant of: http://identifiers.org/hgnc/10333
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile654Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

8-99039662-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039662
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039662
    reference: chr 8
allele count: 4
allele frequency: 3.372681281618887e-5
allele num: 118600
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.261T>C
  hgvsp: ENSP00000429885.1:p.Ile88Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1109T>C
  hgvsp: ENSP00000429010.1:p.Ile370Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1961T>C
  hgvsp: ENSP00000429977.1:p.Ile654Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-3028T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1961T>C
  hgvsp: ENSP00000254898.5:p.Ile654Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.344T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1308T>C
  hgvsp: ENSP00000429622.1:p.Ile437Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1696A>G
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1838T>C
  hgvsp: ENSP00000430221.1:p.Ile613Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1961T>C
  hgvsp: ENSP00000430487.1:p.Ile654Thr
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile654Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

8-99039681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039681
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039681
    reference: chr 8
allele count: 1
allele frequency: 8.335695113615524e-6
allele num: 119966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1327C>T
  hgvsp: ENST00000518154.1:c.1327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-3009C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1857C>T
  hgvsp: ENST00000524308.1:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1128C>T
  hgvsp: ENST00000522025.2:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.280C>T
  hgvsp: ENST00000517321.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1980C>T
  hgvsp: ENST00000520016.1:c.1980C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1980C>T
  hgvsp: ENST00000521689.1:c.1980C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1980C>T
  hgvsp: ENST00000254898.5:c.1980C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1715G>A
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.363C>T
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile660Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

8-99039690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039690
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039690
    reference: chr 8
allele count: 3
allele frequency: 2.492439599880363e-5
allele num: 120364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.372C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1724G>A
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1989C>T
  hgvsp: ENST00000521689.1:c.1989C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1336C>T
  hgvsp: ENST00000518154.1:c.1336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1137C>T
  hgvsp: ENST00000522025.2:c.1137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.289C>T
  hgvsp: ENST00000517321.1:c.289C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1989C>T
  hgvsp: ENST00000254898.5:c.1989C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1866C>T
  hgvsp: ENST00000524308.1:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1989C>T
  hgvsp: ENST00000520016.1:c.1989C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-3000C>T
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser663Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

8-99039700-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039700
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039700
    reference: chr 8
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1876G>C
  hgvsp: ENSP00000430221.1:p.Gly626Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1734C>G
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.382G>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.1999G>C
  hgvsp: ENSP00000429977.1:p.Gly667Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.1999G>C
  hgvsp: ENSP00000254898.5:p.Gly667Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.299G>C
  hgvsp: ENSP00000429885.1:p.Gly101Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.1999G>C
  hgvsp: ENSP00000430487.1:p.Gly667Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2990G>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1147G>C
  hgvsp: ENSP00000429010.1:p.Gly383Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1346G>C
  hgvsp: ENSP00000429622.1:p.Gly450Arg
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly667Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-99039704-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039704
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039704
    reference: chr 8
allele count: 2
allele frequency: 1.657577616071872e-5
allele num: 120658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.2003A>G
  hgvsp: ENSP00000429977.1:p.Glu668Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.2003A>G
  hgvsp: ENSP00000430487.1:p.Glu668Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1738T>C
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1880A>G
  hgvsp: ENSP00000430221.1:p.Glu627Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.386A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1350A>G
  hgvsp: ENSP00000429622.1:p.Glu451Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2986A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.2003A>G
  hgvsp: ENSP00000254898.5:p.Glu668Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1151A>G
  hgvsp: ENSP00000429010.1:p.Glu384Gly
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.303A>G
  hgvsp: ENSP00000429885.1:p.Glu102Gly
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu668Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

8-99039706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039706
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039706
    reference: chr 8
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.2005G>A
  hgvsp: ENSP00000429977.1:p.Glu669Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2984G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.2005G>A
  hgvsp: ENSP00000430487.1:p.Glu669Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1153G>A
  hgvsp: ENSP00000429010.1:p.Glu385Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.305G>A
  hgvsp: ENSP00000429885.1:p.Glu103Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1882G>A
  hgvsp: ENSP00000430221.1:p.Glu628Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1352G>A
  hgvsp: ENSP00000429622.1:p.Glu452Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1740C>T
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.2005G>A
  hgvsp: ENSP00000254898.5:p.Glu669Lys
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.388G>A
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu669Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

8-99039720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039720
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039720
    reference: chr 8
allele count: 47
allele frequency: 3.893306825712392e-4
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.2019C>T
  hgvsp: ENST00000254898.5:c.2019C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1167C>T
  hgvsp: ENST00000522025.2:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1366C>T
  hgvsp: ENST00000518154.1:c.1366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2970C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.2019C>T
  hgvsp: ENST00000521689.1:c.2019C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.2019C>T
  hgvsp: ENST00000520016.1:c.2019C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1754G>A
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1896C>T
  hgvsp: ENST00000524308.1:c.1896C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.319C>T
  hgvsp: ENST00000517321.1:c.319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.402C>T
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val673Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

8-99039721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039721
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039721
    reference: chr 8
allele count: 3
allele frequency: 2.484965955966403e-5
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.320G>A
  hgvsp: ENSP00000429885.1:p.Val108Met
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.2020G>A
  hgvsp: ENSP00000429977.1:p.Val674Met
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1168G>A
  hgvsp: ENSP00000429010.1:p.Val390Met
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.2020G>A
  hgvsp: ENSP00000430487.1:p.Val674Met
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.2020G>A
  hgvsp: ENSP00000254898.5:p.Val674Met
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1367G>A
  hgvsp: ENSP00000429622.1:p.Val457Met
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1897G>A
  hgvsp: ENSP00000430221.1:p.Val633Met
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1755C>T
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.403G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2969G>A
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val674Met
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

8-99039729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039729
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039729
    reference: chr 8
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.328G>A
  hgvsp: ENST00000517321.1:c.328G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.2028G>A
  hgvsp: ENST00000254898.5:c.2028G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1375G>A
  hgvsp: ENST00000518154.1:c.1375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.2028G>A
  hgvsp: ENST00000520016.1:c.2028G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.2028G>A
  hgvsp: ENST00000521689.1:c.2028G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1176G>A
  hgvsp: ENST00000522025.2:c.1176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1763C>T
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.411G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2961G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1905G>A
  hgvsp: ENST00000524308.1:c.1905G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln676Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-99039733-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039733
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039733
    reference: chr 8
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1379G>A
  hgvsp: ENSP00000429622.1:p.Val461Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.2032G>A
  hgvsp: ENSP00000429977.1:p.Val678Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.2032G>A
  hgvsp: ENSP00000254898.5:p.Val678Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1180G>A
  hgvsp: ENSP00000429010.1:p.Val394Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.2032G>A
  hgvsp: ENSP00000430487.1:p.Val678Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.332G>A
  hgvsp: ENSP00000429885.1:p.Val112Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1909G>A
  hgvsp: ENSP00000430221.1:p.Val637Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1767C>T
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.415G>A
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2957G>A
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val678Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

8-99039736-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039736
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039736
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1912A>G
  hgvsp: ENSP00000430221.1:p.Thr638Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.2035A>G
  hgvsp: ENSP00000254898.5:p.Thr679Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.2035A>G
  hgvsp: ENSP00000430487.1:p.Thr679Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1183A>G
  hgvsp: ENSP00000429010.1:p.Thr395Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.335A>G
  hgvsp: ENSP00000429885.1:p.Thr113Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.2035A>G
  hgvsp: ENSP00000429977.1:p.Thr679Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1382A>G
  hgvsp: ENSP00000429622.1:p.Thr462Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1770T>C
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.418A>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2954A>G
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr679Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-99039737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039737
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039737
    reference: chr 8
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.336C>T
  hgvsp: ENSP00000429885.1:p.Thr113Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.2036C>T
  hgvsp: ENSP00000430487.1:p.Thr679Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1913C>T
  hgvsp: ENSP00000430221.1:p.Thr638Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1771G>A
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2953C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.419C>T
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1184C>T
  hgvsp: ENSP00000429010.1:p.Thr395Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.2036C>T
  hgvsp: ENSP00000429977.1:p.Thr679Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.2036C>T
  hgvsp: ENSP00000254898.5:p.Thr679Ile
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1383C>T
  hgvsp: ENSP00000429622.1:p.Thr462Ile
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr679Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

8-99039738-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039738
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039738
    reference: chr 8
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1914T>C
  hgvsp: ENST00000524308.1:c.1914T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.420T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.2037T>C
  hgvsp: ENST00000521689.1:c.2037T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.2037T>C
  hgvsp: ENST00000254898.5:c.2037T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2952T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1185T>C
  hgvsp: ENST00000522025.2:c.1185T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1384T>C
  hgvsp: ENST00000518154.1:c.1384T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.2037T>C
  hgvsp: ENST00000520016.1:c.2037T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1772A>G
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.337T>C
  hgvsp: ENST00000517321.1:c.337T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr679Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-99039746-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039746
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039746
    reference: chr 8
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2944T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.428T>C
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1193T>C
  hgvsp: ENSP00000429010.1:p.Ile398Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.2045T>C
  hgvsp: ENSP00000429977.1:p.Ile682Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1780A>G
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.2045T>C
  hgvsp: ENSP00000430487.1:p.Ile682Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1922T>C
  hgvsp: ENSP00000430221.1:p.Ile641Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1392T>C
  hgvsp: ENSP00000429622.1:p.Ile465Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.345T>C
  hgvsp: ENSP00000429885.1:p.Ile116Thr
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.2045T>C
  hgvsp: ENSP00000254898.5:p.Ile682Thr
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10642
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile682Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-99039751-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039751
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039751
    reference: chr 8
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1785A>C
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.350T>G
  hgvsp: ENSP00000429885.1:p.Ser118Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1927T>G
  hgvsp: ENSP00000430221.1:p.Ser643Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2939T>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.2050T>G
  hgvsp: ENSP00000429977.1:p.Ser684Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.2050T>G
  hgvsp: ENSP00000254898.5:p.Ser684Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.2050T>G
  hgvsp: ENSP00000430487.1:p.Ser684Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1397T>G
  hgvsp: ENSP00000429622.1:p.Ser467Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1198T>G
  hgvsp: ENSP00000429010.1:p.Ser400Ala
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.433T>G
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser684Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-99039758-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039758
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039758
    reference: chr 8
allele count: 44
allele frequency: 3.64359059291156e-4
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156482
  ensembl transcript: ENST00000518164
  gene symbol: RPL30
  hgvsc: ENST00000518164.1:n.241-1792G>C
  variant of: http://identifiers.org/hgnc/10333
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132561
  ensembl transcript: ENST00000518370
  gene symbol: MATN2
  hgvsc: ENST00000518370.1:n.440C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429885
  ensembl transcript: ENST00000517321
  gene symbol: MATN2
  hgvsc: ENST00000517321.1:c.357C>G
  hgvsp: ENSP00000429885.1:p.Thr120Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430487
  ensembl transcript: ENST00000520016
  gene symbol: MATN2
  hgvsc: ENST00000520016.1:c.2057C>G
  hgvsp: ENSP00000430487.1:p.Thr686Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429010
  ensembl transcript: ENST00000522025
  gene symbol: MATN2
  hgvsc: ENST00000522025.2:c.1205C>G
  hgvsp: ENSP00000429010.1:p.Thr402Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000254898
  ensembl transcript: ENST00000254898
  gene symbol: MATN2
  hgvsc: ENST00000254898.5:c.2057C>G
  hgvsp: ENSP00000254898.5:p.Thr686Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429977
  ensembl transcript: ENST00000521689
  gene symbol: MATN2
  hgvsc: ENST00000521689.1:c.2057C>G
  hgvsp: ENSP00000429977.1:p.Thr686Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429622
  ensembl transcript: ENST00000518154
  gene symbol: MATN2
  hgvsc: ENST00000518154.1:c.1404C>G
  hgvsp: ENSP00000429622.1:p.Thr469Arg
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000429256
  ensembl transcript: ENST00000521952
  gene symbol: MATN2
  hgvsc: ENST00000521952.1:c.*25-2932C>G
  variant of: http://identifiers.org/hgnc/6908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132561
  ensembl protein: ENSP00000430221
  ensembl transcript: ENST00000524308
  gene symbol: MATN2
  hgvsc: ENST00000524308.1:c.1934C>G
  hgvsp: ENSP00000430221.1:p.Thr645Arg
  variant of: http://identifiers.org/hgnc/6908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr686Arg
num of homozygotes: 1
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

8-99039760-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99039760
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 99039759
    reference: chr 8
allele count: 3
allele frequency: 2.484266313348791e-5
allele num: 120760
alternate allele: A
canonical: true
consequence: frameshift
filter: PASS
hgvs: p.Ser688ProfsTer22
num of homozygotes: 0
reference allele: AT

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 8.06e-1

DP
type: SiteQuality
SIO_000300: 5.285968e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.506e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 2.988e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

GenotypeQuality
all individuals: 2319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.21e0

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 1.688e0

MQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.84e-1

DP
type: SiteQuality
SIO_000300: 5.283099e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.34e-1

GenotypeQuality
all individuals: 333
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
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: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.08e0

MQRankSum
type: SiteQuality
SIO_000300: -8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 5.842e0

QD
type: SiteQuality
SIO_000300: 1.589e1

DP
type: SiteQuality
SIO_000300: 5.27882e6

VQSLOD
type: SiteQuality
SIO_000300: -1.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 764
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51890
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 637
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.291e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.013e0

VQSLOD
type: SiteQuality
SIO_000300: -3.15e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.549e1

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

DP
type: SiteQuality
SIO_000300: 5.275716e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 4047
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5709
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11120
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5268
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7608
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2989
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10610
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.565126050420168e-5
allele num: 15232
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

FS
type: SiteQuality
SIO_000300: 4.167e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

DP
type: SiteQuality
SIO_000300: 1.511037e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

GenotypeQuality
all individuals: 196
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5709
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4047
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2989
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11120
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4175
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7608
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1712
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.130870381966187e-5
allele num: 63880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

FS
type: SiteQuality
SIO_000300: 4.167e0

DP
type: SiteQuality
SIO_000300: 1.511037e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

QD
type: SiteQuality
SIO_000300: 1.111e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 7694
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1439
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5784
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25049
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.103662321539417e-5
allele num: 64440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 1.665e0

DP
type: SiteQuality
SIO_000300: 1.629309e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545642832854184e-5
allele num: 64698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 4.158e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.091e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.31e-2

BaseQRankSum
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SIO_000300: 9.23e-1

DP
type: SiteQuality
SIO_000300: 1.653717e6

QD
type: SiteQuality
SIO_000300: 1.804e1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540784567501772e-5
allele num: 64902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 1.673906e6

FS
type: SiteQuality
SIO_000300: 3.274e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

QD
type: SiteQuality
SIO_000300: 1.415e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536098310291859e-5
allele num: 65100
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.909e0

FS
type: SiteQuality
SIO_000300: 9.795e0

VQSLOD
type: SiteQuality
SIO_000300: -1.687e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 1.691403e6

QD
type: SiteQuality
SIO_000300: 2.974e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 2.350176263219741e-4
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.23e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

DP
type: SiteQuality
SIO_000300: 1.739839e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.256e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511898642315019e-5
allele num: 66142
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.876e0

DP
type: SiteQuality
SIO_000300: 1.75342e6

QD
type: SiteQuality
SIO_000300: 1.387e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.879e1

DP
type: SiteQuality
SIO_000300: 1.767391e6

FS
type: SiteQuality
SIO_000300: 9.946999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

QD
type: SiteQuality
SIO_000300: 1.502e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.311e0

GenotypeQuality
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variant carriers: 1166

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 47
allele frequency: 7.125530624620982e-3
allele num: 6596
num of homozygotes: 1

Latino
type: Population
allele count: 31
allele frequency: 2.708369736152368e-3
allele num: 11446
num of homozygotes: 0

African
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allele count: 12
allele frequency: 1.227244835344651e-3
allele num: 9778
num of homozygotes: 0

European (Non-Finnish)
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allele count: 806
allele frequency: 1.213270712909441e-2
allele num: 66432
num of homozygotes: 3

East Asian
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allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

South Asian
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allele count: 276
allele frequency: 1.68313208927918e-2
allele num: 16398
num of homozygotes: 7

Other
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allele count: 7
allele frequency: 7.847533632286996e-3
allele num: 892
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

DP
type: SiteQuality
SIO_000300: 1.797459e6

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.334e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

FS
type: SiteQuality
SIO_000300: 6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 1.021450459652707e-4
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.056e0

FS
type: SiteQuality
SIO_000300: 8.7e-1

BaseQRankSum
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SIO_000300: 3.49e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQ
type: SiteQuality
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MQRankSum
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SIO_000300: -9.78e-1

DP
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SIO_000300: 1.795037e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

QD
type: SiteQuality
SIO_000300: 1.411e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.795443e6

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
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: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999490086685263e-5
allele num: 66678
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

DP
type: SiteQuality
SIO_000300: 1.8036e6

FS
type: SiteQuality
SIO_000300: 3.542e0

QD
type: SiteQuality
SIO_000300: 1.324e1

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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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.498275396658768e-5
allele num: 66682
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.804261e6

FS
type: SiteQuality
SIO_000300: 2.615e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.324e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8506
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
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: 9796
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.763e0

DP
type: SiteQuality
SIO_000300: 1.804825e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.504e0

MQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.213e1

VQSLOD
type: SiteQuality
SIO_000300: -1.174e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 1344
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.813e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.61e1

DP
type: SiteQuality
SIO_000300: 1.805702e6

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.216e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

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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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9780
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 8.77e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.25e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
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
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.91e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.78e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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SIO_000300: -5.96e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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 frequency: 1.023122570083896e-4
allele num: 9774
num of homozygotes: 0

Latino
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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
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Other
type: Population
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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VQSLOD
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FS
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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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
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SIO_000300: -6.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
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SIO_000300: -2.5e-1

DP
type: SiteQuality
SIO_000300: 1.804248e6

VQSLOD
type: SiteQuality
SIO_000300: 3.47e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
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
allele num: 9758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.176e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.722e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
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SIO_000300: 1.182e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: 2.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.803583e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

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

East Asian
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allele count: 3
allele frequency: 3.482702577199907e-4
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.516084420660213e-5
allele num: 66524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.800869e6

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
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SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

QD
type: SiteQuality
SIO_000300: 1.203e1

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: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.799943e6

VQSLOD
type: SiteQuality
SIO_000300: 4.13e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.272e1

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.804e0

FS
type: SiteQuality
SIO_000300: 4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e0

DP
type: SiteQuality
SIO_000300: 1.798489e6

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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bin: 7.75e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
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: 1.503940323647958e-5
allele num: 66492
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 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

African
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.6e-3

DP
type: SiteQuality
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QD
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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Latino
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allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
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allele count: 13
allele frequency: 1.955298859910357e-4
allele num: 66486
num of homozygotes: 0

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

African
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East Asian
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South Asian
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allele frequency: 1.218917601170161e-4
allele num: 16408
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Other
type: Population
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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MQ
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QD
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MQRankSum
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FS
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DP
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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 (Finnish)
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num of homozygotes: 0

Other
type: Population
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allele num: 894
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African
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European (Non-Finnish)
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allele frequency: 1.052916578923618e-4
allele num: 66482
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Latino
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South Asian
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East Asian
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DP
type: SiteQuality
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ReadPosRankSum
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QD
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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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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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

DP
type: SiteQuality
SIO_000300: 1.793086e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.57e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-2

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3065
bin: 7.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3986
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509160604871571e-5
allele num: 66262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 4.112e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.192e0

MQRankSum
type: SiteQuality
SIO_000300: -1.779e0

FS
type: SiteQuality
SIO_000300: 8.871e0

DP
type: SiteQuality
SIO_000300: 1.776785e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.573e0

QD
type: SiteQuality
SIO_000300: 9.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 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: 9664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.324500232450023e-4
allele num: 8604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.033e0

FS
type: SiteQuality
SIO_000300: 5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: -1.677e0

VQSLOD
type: SiteQuality
SIO_000300: -2.183e0

DP
type: SiteQuality
SIO_000300: 1.7727e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e0

QD
type: SiteQuality
SIO_000300: 7.87e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.172770535899027e-4
allele num: 9666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.846e0

QD
type: SiteQuality
SIO_000300: 1.166e1

DP
type: SiteQuality
SIO_000300: 1.769495e6

FS
type: SiteQuality
SIO_000300: 1.386e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.91e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66108
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: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.856e0

FS
type: SiteQuality
SIO_000300: 3.189e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.103e0

QD
type: SiteQuality
SIO_000300: 1.382e1

VQSLOD
type: SiteQuality
SIO_000300: -1.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.093e0

DP
type: SiteQuality
SIO_000300: 1.757429e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15708
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.082725060827251e-4
allele num: 11508
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: 880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66032
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

DP
type: SiteQuality
SIO_000300: 1.755102e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.228e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e0

FS
type: SiteQuality
SIO_000300: 7.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8791
bin: 9.75e1
variant carriers: 309

GenotypeQuality
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bin: 8.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514784294716432e-5
allele num: 66016
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.277139208173691e-4
allele num: 15660
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.409090909090909e-3
allele num: 880
num of homozygotes: 0

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

Latino
type: Population
allele count: 10
allele frequency: 8.689607229753215e-4
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 304
allele frequency: 3.158769742310889e-2
allele num: 9624
num of homozygotes: 7

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.562e0

DP
type: SiteQuality
SIO_000300: 1.765503e6

QD
type: SiteQuality
SIO_000300: 1.379e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.78e-2

FS
type: SiteQuality
SIO_000300: 8.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeQuality
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bin: 3.25e1
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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bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516898246465627e-5
allele num: 65924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15438
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.763667e6

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 2.052e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 82
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.142857142857142e-2
allele num: 56
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.77e-1

DP
type: SiteQuality
SIO_000300: 5.0173e4

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.472e1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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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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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 4.098360655737705e-3
allele num: 1464
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African
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Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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European (Finnish)
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allele frequency: NaN
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Other
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DP
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QD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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African
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East Asian
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Other
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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VQSLOD
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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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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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African
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South Asian
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VQSLOD
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FS
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MQ
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ClippingRankSum
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DP
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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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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Latino
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FS
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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QD
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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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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Latino
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European (Finnish)
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Other
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South Asian
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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ClippingRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Other
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South Asian
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QD
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Other
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Latino
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FS
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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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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East Asian
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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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VQSLOD
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InbreedingCoeff
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DP
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FS
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

QD
type: SiteQuality
SIO_000300: 1.106e1

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.37438152831226e-4
allele num: 65484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.381e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 5.72e-1

DP
type: SiteQuality
SIO_000300: 1.894261e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.162006341885269e-4
allele num: 13876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.216e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.903657e6

FS
type: SiteQuality
SIO_000300: 2.686e0

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 10664
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variant carriers: 1

GenotypeQuality
all individuals: 8269
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.023331968890708e-4
allele num: 9772
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.173e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.186e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.535e0

MQRankSum
type: SiteQuality
SIO_000300: -1.791e0

DP
type: SiteQuality
SIO_000300: 1.904955e6

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25811
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036744609778318e-5
allele num: 65860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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: 8592
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.18e-1

DP
type: SiteQuality
SIO_000300: 1.907236e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.690753378830456e-5
allele num: 14946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
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: 878
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

DP
type: SiteQuality
SIO_000300: 1.917466e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.4477e1

VQSLOD
type: SiteQuality
SIO_000300: -2.248e0

QD
type: SiteQuality
SIO_000300: 8.470000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

GenotypeQuality
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bin: 7.25e1
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: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 132
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.5355587808418e-5
allele num: 66144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15002
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 1.91849e6

QD
type: SiteQuality
SIO_000300: 1.283e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8465
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
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: 890
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.988e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.934e0

QD
type: SiteQuality
SIO_000300: 1.538e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10665
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66670
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South Asian
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East Asian
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Other
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Latino
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 1.020408163265306e-4
allele num: 9800
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66678
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East Asian
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South Asian
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Other
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DP
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SIO_000300: 1.942924e6

InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 1.817300702689605e-4
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European (Non-Finnish)
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allele num: 66698
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European (Finnish)
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Latino
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allele frequency: 2.246026261230131e-3
allele num: 11576
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African
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allele num: 9800
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Other
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8626
num of homozygotes: 0

Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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African
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South Asian
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MQRankSum
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ClippingRankSum
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QD
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Finnish)
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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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InbreedingCoeff
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MQ
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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Latino
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African
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European (Non-Finnish)
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East Asian
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South Asian
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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allele frequency: 0.0e0
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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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European (Finnish)
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allele frequency: 0.0e0
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Latino
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InbreedingCoeff
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.944166e6

QD
type: SiteQuality
SIO_000300: 1.545e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-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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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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Latino
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allele frequency: 0.0e0
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African
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East Asian
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allele num: 8626
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-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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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

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

Other
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South Asian
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allele frequency: 0.0e0
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Latino
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VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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QD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
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SIO_000300: -1.81e-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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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

South Asian
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allele num: 16510
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
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African
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Other
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Latino
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VQSLOD
type: SiteQuality
SIO_000300: -7.822e-1

DP
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SIO_000300: 1.944109e6

FS
type: SiteQuality
SIO_000300: 3.878e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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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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

Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66738
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East Asian
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South Asian
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MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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DP
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QD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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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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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: 16510
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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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
allele num: 6614
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East Asian
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allele frequency: 5.100857871551124e-3
allele num: 8626
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQRankSum
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FS
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DP
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VQSLOD
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QD
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ReadPosRankSum
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BaseQRankSum
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MQ
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