@jbrowse/plugin-spreadsheet-view 2.6.1 → 2.6.3

This diff represents the content of publicly available package versions that have been released to one of the supported registries. The information contained in this diff is provided for informational purposes only and reflects changes between package versions as they appear in their respective public registries.
Files changed (204) hide show
  1. package/dist/LaunchSpreadsheetView/index.js +0 -1
  2. package/dist/SpreadsheetView/components/CellData.js +0 -1
  3. package/dist/SpreadsheetView/components/ColumnFilterControls.js +0 -1
  4. package/dist/SpreadsheetView/components/ColumnMenu.js +0 -1
  5. package/dist/SpreadsheetView/components/DataRow.js +0 -1
  6. package/dist/SpreadsheetView/components/DataTable.js +0 -1
  7. package/dist/SpreadsheetView/components/DataTableHeader.js +0 -1
  8. package/dist/SpreadsheetView/components/GlobalFilterControls.js +0 -1
  9. package/dist/SpreadsheetView/components/ImportWizard.js +0 -1
  10. package/dist/SpreadsheetView/components/NumberEditor.js +0 -1
  11. package/dist/SpreadsheetView/components/RowCountMessage.js +0 -1
  12. package/dist/SpreadsheetView/components/RowMenu.js +0 -1
  13. package/dist/SpreadsheetView/components/SortIndicator.js +0 -1
  14. package/dist/SpreadsheetView/components/Spreadsheet.js +0 -1
  15. package/dist/SpreadsheetView/components/SpreadsheetView.js +0 -1
  16. package/dist/SpreadsheetView/components/StatusBar.js +0 -1
  17. package/dist/SpreadsheetView/components/util.js +0 -1
  18. package/dist/SpreadsheetView/importAdapters/BedImport.js +0 -1
  19. package/dist/SpreadsheetView/importAdapters/ImportUtils.js +0 -1
  20. package/dist/SpreadsheetView/importAdapters/STARFusionImport.js +0 -1
  21. package/dist/SpreadsheetView/importAdapters/VcfImport.js +0 -1
  22. package/dist/SpreadsheetView/index.js +0 -1
  23. package/dist/SpreadsheetView/models/ColumnDataTypes/LocEnd.js +0 -1
  24. package/dist/SpreadsheetView/models/ColumnDataTypes/LocRef.js +0 -1
  25. package/dist/SpreadsheetView/models/ColumnDataTypes/LocStart.js +0 -1
  26. package/dist/SpreadsheetView/models/ColumnDataTypes/LocString.js +0 -1
  27. package/dist/SpreadsheetView/models/ColumnDataTypes/MakeSpreadsheetColumnType.js +0 -1
  28. package/dist/SpreadsheetView/models/ColumnDataTypes/Number.js +0 -1
  29. package/dist/SpreadsheetView/models/ColumnDataTypes/Text.js +0 -1
  30. package/dist/SpreadsheetView/models/ColumnDataTypes/index.js +0 -1
  31. package/dist/SpreadsheetView/models/FilterControls.js +0 -1
  32. package/dist/SpreadsheetView/models/ImportWizard.js +0 -1
  33. package/dist/SpreadsheetView/models/Row.js +0 -1
  34. package/dist/SpreadsheetView/models/Spreadsheet.js +0 -1
  35. package/dist/SpreadsheetView/models/SpreadsheetView.js +0 -1
  36. package/dist/SpreadsheetView/models/StaticRowSet.js +0 -1
  37. package/dist/index.js +0 -1
  38. package/esm/LaunchSpreadsheetView/index.js +0 -1
  39. package/esm/SpreadsheetView/components/CellData.js +0 -1
  40. package/esm/SpreadsheetView/components/ColumnFilterControls.js +0 -1
  41. package/esm/SpreadsheetView/components/ColumnMenu.js +0 -1
  42. package/esm/SpreadsheetView/components/DataRow.js +0 -1
  43. package/esm/SpreadsheetView/components/DataTable.js +0 -1
  44. package/esm/SpreadsheetView/components/DataTableHeader.js +0 -1
  45. package/esm/SpreadsheetView/components/GlobalFilterControls.js +0 -1
  46. package/esm/SpreadsheetView/components/ImportWizard.js +0 -1
  47. package/esm/SpreadsheetView/components/NumberEditor.js +0 -1
  48. package/esm/SpreadsheetView/components/RowCountMessage.js +0 -1
  49. package/esm/SpreadsheetView/components/RowMenu.js +0 -1
  50. package/esm/SpreadsheetView/components/SortIndicator.js +0 -1
  51. package/esm/SpreadsheetView/components/Spreadsheet.js +0 -1
  52. package/esm/SpreadsheetView/components/SpreadsheetView.js +0 -1
  53. package/esm/SpreadsheetView/components/StatusBar.js +0 -1
  54. package/esm/SpreadsheetView/components/util.js +0 -1
  55. package/esm/SpreadsheetView/importAdapters/BedImport.js +0 -1
  56. package/esm/SpreadsheetView/importAdapters/ImportUtils.js +0 -1
  57. package/esm/SpreadsheetView/importAdapters/STARFusionImport.js +0 -1
  58. package/esm/SpreadsheetView/importAdapters/VcfImport.js +0 -1
  59. package/esm/SpreadsheetView/index.js +0 -1
  60. package/esm/SpreadsheetView/models/ColumnDataTypes/LocEnd.js +0 -1
  61. package/esm/SpreadsheetView/models/ColumnDataTypes/LocRef.js +0 -1
  62. package/esm/SpreadsheetView/models/ColumnDataTypes/LocStart.js +0 -1
  63. package/esm/SpreadsheetView/models/ColumnDataTypes/LocString.js +0 -1
  64. package/esm/SpreadsheetView/models/ColumnDataTypes/MakeSpreadsheetColumnType.js +0 -1
  65. package/esm/SpreadsheetView/models/ColumnDataTypes/Number.js +0 -1
  66. package/esm/SpreadsheetView/models/ColumnDataTypes/Text.js +0 -1
  67. package/esm/SpreadsheetView/models/ColumnDataTypes/index.js +0 -1
  68. package/esm/SpreadsheetView/models/FilterControls.js +0 -1
  69. package/esm/SpreadsheetView/models/ImportWizard.js +0 -1
  70. package/esm/SpreadsheetView/models/Row.js +0 -1
  71. package/esm/SpreadsheetView/models/Spreadsheet.js +0 -1
  72. package/esm/SpreadsheetView/models/SpreadsheetView.js +0 -1
  73. package/esm/SpreadsheetView/models/StaticRowSet.js +0 -1
  74. package/esm/index.js +0 -1
  75. package/package.json +4 -5
  76. package/dist/LaunchSpreadsheetView/index.js.map +0 -1
  77. package/dist/SpreadsheetView/components/CellData.js.map +0 -1
  78. package/dist/SpreadsheetView/components/ColumnFilterControls.js.map +0 -1
  79. package/dist/SpreadsheetView/components/ColumnMenu.js.map +0 -1
  80. package/dist/SpreadsheetView/components/DataRow.js.map +0 -1
  81. package/dist/SpreadsheetView/components/DataTable.js.map +0 -1
  82. package/dist/SpreadsheetView/components/DataTableHeader.js.map +0 -1
  83. package/dist/SpreadsheetView/components/GlobalFilterControls.js.map +0 -1
  84. package/dist/SpreadsheetView/components/ImportWizard.js.map +0 -1
  85. package/dist/SpreadsheetView/components/NumberEditor.js.map +0 -1
  86. package/dist/SpreadsheetView/components/RowCountMessage.js.map +0 -1
  87. package/dist/SpreadsheetView/components/RowMenu.js.map +0 -1
  88. package/dist/SpreadsheetView/components/SortIndicator.js.map +0 -1
  89. package/dist/SpreadsheetView/components/Spreadsheet.js.map +0 -1
  90. package/dist/SpreadsheetView/components/SpreadsheetView.js.map +0 -1
  91. package/dist/SpreadsheetView/components/StatusBar.js.map +0 -1
  92. package/dist/SpreadsheetView/components/util.js.map +0 -1
  93. package/dist/SpreadsheetView/importAdapters/BedImport.js.map +0 -1
  94. package/dist/SpreadsheetView/importAdapters/ImportUtils.js.map +0 -1
  95. package/dist/SpreadsheetView/importAdapters/STARFusionImport.js.map +0 -1
  96. package/dist/SpreadsheetView/importAdapters/VcfImport.js.map +0 -1
  97. package/dist/SpreadsheetView/index.js.map +0 -1
  98. package/dist/SpreadsheetView/models/ColumnDataTypes/LocEnd.js.map +0 -1
  99. package/dist/SpreadsheetView/models/ColumnDataTypes/LocRef.js.map +0 -1
  100. package/dist/SpreadsheetView/models/ColumnDataTypes/LocStart.js.map +0 -1
  101. package/dist/SpreadsheetView/models/ColumnDataTypes/LocString.js.map +0 -1
  102. package/dist/SpreadsheetView/models/ColumnDataTypes/MakeSpreadsheetColumnType.js.map +0 -1
  103. package/dist/SpreadsheetView/models/ColumnDataTypes/Number.js.map +0 -1
  104. package/dist/SpreadsheetView/models/ColumnDataTypes/Text.js.map +0 -1
  105. package/dist/SpreadsheetView/models/ColumnDataTypes/index.js.map +0 -1
  106. package/dist/SpreadsheetView/models/FilterControls.js.map +0 -1
  107. package/dist/SpreadsheetView/models/ImportWizard.js.map +0 -1
  108. package/dist/SpreadsheetView/models/Row.js.map +0 -1
  109. package/dist/SpreadsheetView/models/Spreadsheet.js.map +0 -1
  110. package/dist/SpreadsheetView/models/SpreadsheetView.js.map +0 -1
  111. package/dist/SpreadsheetView/models/StaticRowSet.js.map +0 -1
  112. package/dist/index.js.map +0 -1
  113. package/esm/LaunchSpreadsheetView/index.js.map +0 -1
  114. package/esm/SpreadsheetView/components/CellData.js.map +0 -1
  115. package/esm/SpreadsheetView/components/ColumnFilterControls.js.map +0 -1
  116. package/esm/SpreadsheetView/components/ColumnMenu.js.map +0 -1
  117. package/esm/SpreadsheetView/components/DataRow.js.map +0 -1
  118. package/esm/SpreadsheetView/components/DataTable.js.map +0 -1
  119. package/esm/SpreadsheetView/components/DataTableHeader.js.map +0 -1
  120. package/esm/SpreadsheetView/components/GlobalFilterControls.js.map +0 -1
  121. package/esm/SpreadsheetView/components/ImportWizard.js.map +0 -1
  122. package/esm/SpreadsheetView/components/NumberEditor.js.map +0 -1
  123. package/esm/SpreadsheetView/components/RowCountMessage.js.map +0 -1
  124. package/esm/SpreadsheetView/components/RowMenu.js.map +0 -1
  125. package/esm/SpreadsheetView/components/SortIndicator.js.map +0 -1
  126. package/esm/SpreadsheetView/components/Spreadsheet.js.map +0 -1
  127. package/esm/SpreadsheetView/components/SpreadsheetView.js.map +0 -1
  128. package/esm/SpreadsheetView/components/StatusBar.js.map +0 -1
  129. package/esm/SpreadsheetView/components/util.js.map +0 -1
  130. package/esm/SpreadsheetView/importAdapters/BedImport.js.map +0 -1
  131. package/esm/SpreadsheetView/importAdapters/ImportUtils.js.map +0 -1
  132. package/esm/SpreadsheetView/importAdapters/STARFusionImport.js.map +0 -1
  133. package/esm/SpreadsheetView/importAdapters/VcfImport.js.map +0 -1
  134. package/esm/SpreadsheetView/index.js.map +0 -1
  135. package/esm/SpreadsheetView/models/ColumnDataTypes/LocEnd.js.map +0 -1
  136. package/esm/SpreadsheetView/models/ColumnDataTypes/LocRef.js.map +0 -1
  137. package/esm/SpreadsheetView/models/ColumnDataTypes/LocStart.js.map +0 -1
  138. package/esm/SpreadsheetView/models/ColumnDataTypes/LocString.js.map +0 -1
  139. package/esm/SpreadsheetView/models/ColumnDataTypes/MakeSpreadsheetColumnType.js.map +0 -1
  140. package/esm/SpreadsheetView/models/ColumnDataTypes/Number.js.map +0 -1
  141. package/esm/SpreadsheetView/models/ColumnDataTypes/Text.js.map +0 -1
  142. package/esm/SpreadsheetView/models/ColumnDataTypes/index.js.map +0 -1
  143. package/esm/SpreadsheetView/models/FilterControls.js.map +0 -1
  144. package/esm/SpreadsheetView/models/ImportWizard.js.map +0 -1
  145. package/esm/SpreadsheetView/models/Row.js.map +0 -1
  146. package/esm/SpreadsheetView/models/Spreadsheet.js.map +0 -1
  147. package/esm/SpreadsheetView/models/SpreadsheetView.js.map +0 -1
  148. package/esm/SpreadsheetView/models/StaticRowSet.js.map +0 -1
  149. package/esm/index.js.map +0 -1
  150. package/src/LaunchSpreadsheetView/index.ts +0 -40
  151. package/src/SpreadsheetView/components/CellData.tsx +0 -35
  152. package/src/SpreadsheetView/components/ColumnFilterControls.tsx +0 -84
  153. package/src/SpreadsheetView/components/ColumnMenu.tsx +0 -166
  154. package/src/SpreadsheetView/components/DataRow.tsx +0 -126
  155. package/src/SpreadsheetView/components/DataTable.tsx +0 -91
  156. package/src/SpreadsheetView/components/DataTableHeader.tsx +0 -122
  157. package/src/SpreadsheetView/components/GlobalFilterControls.tsx +0 -70
  158. package/src/SpreadsheetView/components/ImportWizard.tsx +0 -139
  159. package/src/SpreadsheetView/components/NumberEditor.tsx +0 -50
  160. package/src/SpreadsheetView/components/RowCountMessage.tsx +0 -44
  161. package/src/SpreadsheetView/components/RowMenu.tsx +0 -65
  162. package/src/SpreadsheetView/components/SortIndicator.tsx +0 -36
  163. package/src/SpreadsheetView/components/Spreadsheet.test.ts +0 -17
  164. package/src/SpreadsheetView/components/Spreadsheet.tsx +0 -46
  165. package/src/SpreadsheetView/components/SpreadsheetView.tsx +0 -119
  166. package/src/SpreadsheetView/components/StatusBar.tsx +0 -75
  167. package/src/SpreadsheetView/components/util.ts +0 -16
  168. package/src/SpreadsheetView/importAdapters/BedImport.test.ts +0 -14
  169. package/src/SpreadsheetView/importAdapters/BedImport.ts +0 -155
  170. package/src/SpreadsheetView/importAdapters/ImportUtils.test.ts +0 -25
  171. package/src/SpreadsheetView/importAdapters/ImportUtils.ts +0 -152
  172. package/src/SpreadsheetView/importAdapters/STARFusionImport.test.ts +0 -27
  173. package/src/SpreadsheetView/importAdapters/STARFusionImport.ts +0 -74
  174. package/src/SpreadsheetView/importAdapters/VcfImport.test.ts +0 -42
  175. package/src/SpreadsheetView/importAdapters/VcfImport.ts +0 -118
  176. package/src/SpreadsheetView/importAdapters/__snapshots__/ImportUtils.test.ts.snap +0 -6555
  177. package/src/SpreadsheetView/importAdapters/__snapshots__/STARFusionImport.test.ts.snap +0 -2354
  178. package/src/SpreadsheetView/importAdapters/__snapshots__/VcfImport.test.ts.snap +0 -16329
  179. package/src/SpreadsheetView/index.ts +0 -20
  180. package/src/SpreadsheetView/models/ColumnDataTypes/LocEnd.ts +0 -21
  181. package/src/SpreadsheetView/models/ColumnDataTypes/LocRef.ts +0 -21
  182. package/src/SpreadsheetView/models/ColumnDataTypes/LocStart.ts +0 -21
  183. package/src/SpreadsheetView/models/ColumnDataTypes/LocString.tsx +0 -328
  184. package/src/SpreadsheetView/models/ColumnDataTypes/MakeSpreadsheetColumnType.tsx +0 -38
  185. package/src/SpreadsheetView/models/ColumnDataTypes/Number.tsx +0 -177
  186. package/src/SpreadsheetView/models/ColumnDataTypes/Text.tsx +0 -173
  187. package/src/SpreadsheetView/models/ColumnDataTypes/index.ts +0 -34
  188. package/src/SpreadsheetView/models/FilterControls.ts +0 -95
  189. package/src/SpreadsheetView/models/ImportWizard.ts +0 -203
  190. package/src/SpreadsheetView/models/Row.ts +0 -46
  191. package/src/SpreadsheetView/models/Spreadsheet.ts +0 -209
  192. package/src/SpreadsheetView/models/SpreadsheetView.test.ts +0 -8
  193. package/src/SpreadsheetView/models/SpreadsheetView.ts +0 -243
  194. package/src/SpreadsheetView/models/StaticRowSet.ts +0 -65
  195. package/src/SpreadsheetView/test_data/1801160099-N32519_26611_S51_56704.hard-filtered.vcf +0 -174
  196. package/src/SpreadsheetView/test_data/breast_cancer.subset.csv +0 -50
  197. package/src/SpreadsheetView/test_data/diabetes_target.csv.gz +0 -0
  198. package/src/SpreadsheetView/test_data/foo.bed +0 -11
  199. package/src/SpreadsheetView/test_data/location_test.csv +0 -3
  200. package/src/SpreadsheetView/test_data/location_test_2.csv +0 -3
  201. package/src/SpreadsheetView/test_data/reads_lr_skbr3.fa_ngmlr-0.2.3_mapped.bam.sniffles1kb_auto_l8_s5_noalt.bedpe +0 -1405
  202. package/src/SpreadsheetView/test_data/starfusion_example.fusion_predictions.tsv +0 -25
  203. package/src/SpreadsheetView/test_data/volvox.sort.bed +0 -109
  204. package/src/index.ts +0 -38
@@ -1,174 +0,0 @@
1
- ##fileformat=VCFv4.1
2
- ##FORMAT=<ID=AD,Number=.,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
3
- ##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)">
4
- ##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
5
- ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
6
- ##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
7
- ##FORMAT=<ID=SB,Number=4,Type=Integer,Description="Per-sample component statistics which comprise the Fisher's Exact Test to detect strand bias.">
8
- ##DRAGENCommandLine=<ID=dragen,Date="Mon Mar 05 02:30:12 PST 2018",CommandLineOptions=" -r human/reference/human_GRCh37.p13.RefSeq/defaults --vc-reference human/reference/human_GRCh37.p13.RefSeq/defaults/genome.fa -1 /data/c10185/analysis/run_56704/1801160099-N32519_26611_S51_R1_001.fastq.gz -2 /data/c10185/analysis/run_56704/1801160099-N32519_26611_S51_R2_001.fastq.gz -f --output-file-prefix 1801160099-N32519_26611_S51_56704 --output-directory jobout --RGID 1801160099-N32519_26611_S51_56704 --RGPL illumina --RGSM 1801160099-N32519 --enable-duplicate-marking true --enable-bam-indexing true --lic-no-print --intermediate-results-dir /staging/tmp --enable-variant-caller true --enable-map-align-output true --vc-sample-name 1801160099-N32519_26611_S51_56704 --vc-enable-depth-of-coverage true --vc-hard-filter=QDFilter:snp:QD<2.0;MQFilter:snp:MQ<40.0;FSFilter:snp:FS>60.0 --dbsnp human/reference/dbSNP/dbsnp_147.b37.vcf --vc-target-bed /ref/extra/targets/LS_coding_exon.b37.pad50.bed">
9
- ##DRAGENVersion=<ID=dragen,Version="SW: 01.011.099.02.03.02.32154, HW: 01.011.099">
10
- ##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
11
- ##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed">
12
- ##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
13
- ##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered">
14
- ##INFO=<ID=FS,Number=1,Type=Float,Description="Phred-scaled p-value using Fisher's exact test to detect strand bias">
15
- ##INFO=<ID=MQ,Number=1,Type=Float,Description="RMS Mapping Quality">
16
- ##INFO=<ID=MQRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities">
17
- ##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth">
18
- ##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias">
19
- ##INFO=<ID=SOR,Number=1,Type=Float,Description="Symmetric Odds Ratio of 2x2 contingency table to detect strand bias">
20
- ##INFO=<ID=FractionInformativeReads,Number=1,Type=Float,Description="The fraction of informative reads out of the total reads">
21
- ##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP Membership">
22
- ##FILTER=<ID=QDFilter,Description="Set if true:QD<2.0">
23
- ##FILTER=<ID=MQFilter,Description="Set if true:MQ<40.0">
24
- ##FILTER=<ID=FSFilter,Description="Set if true:FS>60.0">
25
- ##contig=<ID=1,length=249250621>
26
- ##contig=<ID=2,length=243199373>
27
- ##contig=<ID=3,length=198022430>
28
- ##contig=<ID=4,length=191154276>
29
- ##contig=<ID=5,length=180915260>
30
- ##contig=<ID=6,length=171115067>
31
- ##contig=<ID=7,length=159138663>
32
- ##contig=<ID=8,length=146364022>
33
- ##contig=<ID=9,length=141213431>
34
- ##contig=<ID=10,length=135534747>
35
- ##contig=<ID=11,length=135006516>
36
- ##contig=<ID=12,length=133851895>
37
- ##contig=<ID=13,length=115169878>
38
- ##contig=<ID=14,length=107349540>
39
- ##contig=<ID=15,length=102531392>
40
- ##contig=<ID=16,length=90354753>
41
- ##contig=<ID=17,length=81195210>
42
- ##contig=<ID=18,length=78077248>
43
- ##contig=<ID=19,length=59128983>
44
- ##contig=<ID=20,length=63025520>
45
- ##contig=<ID=21,length=48129895>
46
- ##contig=<ID=22,length=51304566>
47
- ##contig=<ID=X,length=155270560>
48
- ##contig=<ID=Y,length=59373566>
49
- ##contig=<ID=MT,length=16569>
50
- ##reference=file:///staging/human/reference/human_GRCh37.75/defaults/reference.bin
51
- ##SnpSiftVersion="SnpSift 4.3t (build 2017-11-24 10:18), by Pablo Cingolani"
52
- ##SnpSiftCmd="SnpSift Annotate /opt/ras/ref/extra/gme_allele.vcf.gz 1801160099-N32519_26611_S51_56704.hard-filtered.vcf"
53
- ##INFO=<ID=GMEAF,Number=1,Type=String,Description="GME Allele Frequency">
54
- ##INFO=<ID=GMEAC,Number=1,Type=String,Description="GME Allele Count">
55
- ##SnpSiftCmd="SnpSift Annotate /opt/ras/ref/extra/hgmd/hgmd.vcf.gz 1801160099-N32519_26611_S51_56704.hard-filtered.vcf"
56
- ##INFO=<ID=HGMD_CLASSIFICATION,Number=1,Type=String,Description="HGMD Class Information">
57
- ##INFO=<ID=HGMD_ACCESSION,Number=1,Type=String,Description="HGMD Accession ID">
58
- ##SnpSiftCmd="SnpSift Annotate /opt/ras/ref/extra/emvclass/emvclass_2016.vcf.gz 1801160099-N32519_26611_S51_56704.hard-filtered.vcf"
59
- ##INFO=<ID=EMV_CLASSIFICATION,Number=1,Type=String,Description="Emory Variant Class Information">
60
- ##INFO=<ID=HGVS,Number=1,Type=String,Description="HGVS notations">
61
- ##SnpSiftCmd="SnpSift Annotate /opt/ras/ref/extra/gnomAD/release-170228/exomes/vcf/gnomad.exomes.r2.0.1.sites.vcf.gz 1801160099-N32519_26611_S51_56704.hard-filtered.vcf -info AC,AC_POPMAX,AF,AF_POPMAX,AN,AN_POPMAX,POPMAX,Hom,Hemi,InbreedingCoeff,AC_OTH,AF_OTH,AN_OTH,AS_FilterStatus"
62
- ##INFO=<ID=Hom,Number=A,Type=Integer,Description="Count of homozygous individuals">
63
- ##INFO=<ID=POPMAX,Number=A,Type=String,Description="Population with max AF">
64
- ##INFO=<ID=AN_OTH,Number=1,Type=Integer,Description="Total number of alleles in Other (population not assigned) called genotypes">
65
- ##INFO=<ID=AF_OTH,Number=A,Type=Float,Description="Allele Frequency among Other (population not assigned) genotypes, for each ALT allele, in the same order as listed">
66
- ##INFO=<ID=Hemi,Number=A,Type=Integer,Description="Count of hemizygous individuals">
67
- ##INFO=<ID=InbreedingCoeff,Number=1,Type=Float,Description="Inbreeding coefficient as estimated from the genotype likelihoods per-sample when compared against the Hardy-Weinberg expectation">
68
- ##INFO=<ID=AC_OTH,Number=A,Type=Integer,Description="Allele count in Other (population not assigned) genotypes, for each ALT allele, in the same order as listed">
69
- ##INFO=<ID=AF_POPMAX,Number=A,Type=Float,Description="Maximum Allele Frequency across populations (excluding OTH)">
70
- ##INFO=<ID=AN_POPMAX,Number=A,Type=Integer,Description="AN in the population with the max AF">
71
- ##INFO=<ID=AS_FilterStatus,Number=A,Type=String,Description="Random Forests filter status for each allele">
72
- ##INFO=<ID=AC_POPMAX,Number=A,Type=Integer,Description="AC in the population with the max AF">
73
- #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 1801160099-N32519_26611_S51_56704
74
- 1 156845492 rs144271100 A AGTGT 1241.01 PASS DP=98;FS=0.000;MQ=60.00;QD=12.66;SOR=3.912;FractionInformativeReads=0.306;DB GT:AD:DP:GQ:PL:SB 1/1:0,30:30:89:1278,89,0:0,0,3,27
75
- 1 156848995 rs6337 C T 2209.0 PASS DP=150;FS=2.049;MQ=60.00;MQRankSum=1.664;QD=14.73;ReadPosRankSum=1.580;SOR=0.543;FractionInformativeReads=0.993;DB;GMEAC=1089893;GMEAF=0.549445;AC=141461;AC_OTH=3473;AC_POPMAX=7385;AF=5.80610e-01;AF_OTH=6.37716e-01;AF_POPMAX=7.51425e-01;AN=243642;AN_OTH=5446;AN_POPMAX=9828;AS_FilterStatus=PASS;Hom=46764;InbreedingCoeff=1.90900e-01;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 0/1:70,79:149:99:2237,0,2064:41,29,43,36
76
- 2 47601106 rs1126497 T C 1551.63 PASS DP=119;FS=4.625;MQ=60.00;MQRankSum=-2.215;QD=13.04;ReadPosRankSum=0.818;SOR=0.379;FractionInformativeReads=1.000;DB;GMEAC=8441142;GMEAF=0.424975;HGMD_ACCESSION=CM1110060;HGMD_CLASSIFICATION=DP;AC=126143;AC_OTH=2587;AC_POPMAX=12929;AF=5.12364e-01;AF_OTH=4.71736e-01;AF_POPMAX=8.44812e-01;AN=246198;AN_OTH=5484;AN_POPMAX=15304;AS_FilterStatus=PASS;Hom=34881;InbreedingCoeff=7.92000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 0/1:55,64:119:99:1580,0,1515:37,18,37,27
77
- 2 47630550 rs2303426 C G 413.7 PASS DP=38;FS=5.329;MQ=60.00;MQRankSum=1.439;QD=10.89;ReadPosRankSum=-1.116;SOR=0.204;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000251:c.211+9C>G;AC=98964;AC_OTH=2024;AC_POPMAX=12433;AF=4.73557e-01;AF_OTH=4.28995e-01;AF_POPMAX=8.15600e-01;AN=208980;AN_OTH=4718;AN_POPMAX=15244;AS_FilterStatus=PASS;Hom=25312;InbreedingCoeff=9.87000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 0/1:21,17:38:99:442,0,688:4,17,6,11
78
- 2 47641559 rs768805063 TAAAAA T,TAA 1196.95 PASS DP=116;FS=0.000;MQ=60.00;MQRankSum=-1.701;QD=10.32;ReadPosRankSum=0.444;SOR=1.314;FractionInformativeReads=0.379;DB GT:AD:DP:GQ:PL:SB 1/2:5,17,22:44:99:1234,463,591,370,0,278:1,4,7,32
79
- 2 47693959 rs3732183 G A 2335.12 PASS DP=176;FS=1.184;MQ=60.00;MQRankSum=0.712;QD=13.27;ReadPosRankSum=-1.278;SOR=0.585;FractionInformativeReads=1.000;DB;HGMD_ACCESSION=CS045476;HGMD_CLASSIFICATION=DP;EMV_CLASSIFICATION=Benign;HGVS=NM_000251:c.1661+12G>A;AC=84217;AC_OTH=1722;AC_POPMAX=11331;AF=3.42599e-01;AF_OTH=3.14923e-01;AF_POPMAX=6.57251e-01;AN=245818;AN_OTH=5468;AN_POPMAX=17240;AS_FilterStatus=PASS;Hom=16411;InbreedingCoeff=7.10000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 0/1:84,92:176:99:2363,0,2204:35,49,41,51
80
- 2 48010558 rs1042820 C A 1518.37 PASS DP=137;FS=1.367;MQ=60.00;MQRankSum=-0.446;QD=11.08;ReadPosRankSum=-1.028;SOR=0.830;FractionInformativeReads=1.000;DB;GMEAC=2741672;GMEAF=0.140802;EMV_CLASSIFICATION=Benign;HGVS=NM_000179:c.186C>A;AC=15976;AC_OTH=403;AC_POPMAX=9525;AF=1.43863e-01;AF_OTH=1.49038e-01;AF_POPMAX=2.10945e-01;AN=111050;AN_OTH=2704;AN_POPMAX=45154;AS_FilterStatus=PASS;Hom=1366;InbreedingCoeff=7.69000e-02;POPMAX=NFE GT:AD:DP:GQ:PL:SB 0/1:72,65:137:99:1547,0,1848:30,42,25,40
81
- 2 48010654 rs55927047 C G 367.61 PASS DP=29;FS=1.744;MQ=60.00;MQRankSum=1.129;QD=12.68;ReadPosRankSum=-0.155;SOR=0.368;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000179:c.260+22C>G;AC=3934;AC_OTH=100;AC_POPMAX=1890;AF=1.36238e-01;AF_OTH=1.40449e-01;AF_POPMAX=2.04811e-01;AN=28876;AN_OTH=712;AN_POPMAX=9228;AS_FilterStatus=PASS;Hom=347;InbreedingCoeff=8.02000e-02;POPMAX=NFE GT:AD:DP:GQ:PL:SB 0/1:17,12:29:99:396,0,494:3,14,3,9
82
- 2 48018030 rs1800931 A G 531.18 PASS DP=30;FS=7.141;MQ=60.00;MQRankSum=0.445;QD=17.71;ReadPosRankSum=-0.402;SOR=0.091;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000179:c.261-36A>G;AC=9183;AC_OTH=201;AC_POPMAX=6011;AF=3.73931e-02;AF_OTH=3.67325e-02;AF_POPMAX=5.41015e-02;AN=245580;AN_OTH=5472;AN_POPMAX=111106;AS_FilterStatus=PASS;Hom=225;InbreedingCoeff=1.14000e-02;POPMAX=NFE GT:AD:DP:GQ:PL:SB 0/1:12,18:30:99:559,0,359:11,1,12,6
83
- 2 48018081 rs1800932 A G 1300.89 PASS DP=102;FS=0.882;MQ=60.00;MQRankSum=-0.349;QD=12.75;ReadPosRankSum=-0.060;SOR=0.818;FractionInformativeReads=1.000;DB;GMEAC=3001684;GMEAF=0.151210;EMV_CLASSIFICATION=Benign;HGVS=NM_000179:c.276A>G;AC=33198;AC_OTH=777;AC_POPMAX=21264;AF=1.34814e-01;AF_OTH=1.41633e-01;AF_POPMAX=1.90367e-01;AN=246250;AN_OTH=5486;AN_POPMAX=111700;AS_FilterStatus=PASS;Hom=2758;InbreedingCoeff=3.40000e-02;POPMAX=NFE GT:AD:DP:GQ:PL:SB 0/1:55,47:102:99:1329,0,1787:42,13,37,10
84
- 2 48023115 rs1800935 T C 1844.25 PASS DP=166;FS=1.241;MQ=60.00;MQRankSum=-0.761;QD=11.11;ReadPosRankSum=-1.542;SOR=0.832;FractionInformativeReads=1.000;DB;GMEAC=3641620;GMEAF=0.183468;EMV_CLASSIFICATION=Benign;HGVS=NM_000179:c.540T>C;AC=52613;AC_OTH=1182;AC_POPMAX=33558;AF=2.13778e-01;AF_OTH=2.15615e-01;AF_POPMAX=3.00699e-01;AN=246110;AN_OTH=5482;AN_POPMAX=111600;AS_FilterStatus=PASS;Hom=7023;InbreedingCoeff=6.20000e-02;POPMAX=NFE GT:AD:DP:GQ:PL:SB 0/1:93,73:166:99:1872,0,2655:40,53,29,44
85
- 2 48030838 rs2020911 A T 3310.84 PASS DP=92;FS=0.000;MQ=60.00;QD=29.23;SOR=3.209;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000179:c.3438+14A>T;AC=101116;AC_OTH=2153;AC_POPMAX=10767;AF=4.11134e-01;AF_OTH=3.93170e-01;AF_POPMAX=6.24391e-01;AN=245944;AN_OTH=5476;AN_POPMAX=17244;AS_FilterStatus=PASS;Hom=22061;InbreedingCoeff=4.05000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 1/1:0,92:92:99:3339,275,0:0,0,15,77
86
- 2 48032874 rs2234731;rs767177736 ACTAT A 2095.58 PASS DP=124;FS=3.035;MQ=60.00;MQRankSum=-0.513;QD=16.90;ReadPosRankSum=0.987;SOR=0.430;FractionInformativeReads=0.871;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000179:c.3646+33_3646+36delCTAT;AC=167729;AC_OTH=3696;AC_POPMAX=14962;AF=6.84061e-01;AF_OTH=6.77419e-01;AF_POPMAX=8.69884e-01;AN=245196;AN_OTH=5456;AN_POPMAX=17200;AS_FilterStatus=PASS;Hom=58425;InbreedingCoeff=3.36000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 0/1:52,56:108:99:2133,0,2672:10,42,14,42
87
- 2 48033551 rs3136367 C G 8769.99 PASS DP=264;FS=0.000;MQ=60.00;QD=33.22;SOR=0.788;FractionInformativeReads=1.000;DB;AC=180221;AC_OTH=3919;AC_POPMAX=14043;AF=7.33261e-01;AF_OTH=7.15930e-01;AF_POPMAX=9.18924e-01;AN=245780;AN_OTH=5474;AN_POPMAX=15282;AS_FilterStatus=PASS;Hom=66853;InbreedingCoeff=3.00000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:0,264:264:99:8798,793,0:0,0,126,138
88
- 2 48033890 rs771393147 C CT 202.42 PASS DP=110;FS=0.933;MQ=60.00;MQRankSum=0.641;QD=1.84;ReadPosRankSum=-0.266;SOR=0.538;FractionInformativeReads=0.818;DB GT:AD:DP:GQ:PL:SB 0/1:62,28:90:99:240,0,833:44,18,19,9
89
- 2 215632256 rs2070093 A G 3403.61 PASS DP=113;FS=0.000;MQ=60.00;QD=30.12;SOR=0.747;FractionInformativeReads=1.000;DB;GMEAC=1446540;GMEAF=0.728097;AC=201220;AC_OTH=4353;AC_POPMAX=16435;AF=8.17708e-01;AF_OTH=7.95504e-01;AF_POPMAX=9.52864e-01;AN=246078;AN_OTH=5472;AN_POPMAX=17248;AS_FilterStatus=PASS;Hom=83030;InbreedingCoeff=3.63000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 1/1:0,113:113:99:3432,338,0:0,0,55,58
90
- 2 215645545 rs2070096 C G 582.45 PASS DP=55;FS=1.075;MQ=60.00;MQRankSum=0.060;QD=10.59;ReadPosRankSum=0.537;SOR=0.936;FractionInformativeReads=1.000;DB;GMEAC=4131573;GMEAF=0.207956;AC=50713;AC_OTH=1148;AC_POPMAX=2391;AF=2.06149e-01;AF_OTH=2.09566e-01;AF_POPMAX=2.42840e-01;AN=246002;AN_OTH=5478;AN_POPMAX=9846;AS_FilterStatus=PASS;Hom=5414;InbreedingCoeff=9.10000e-03;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 0/1:32,23:55:99:611,0,987:19,13,15,8
91
- 2 215657182 rs56130510 TA T 396.01 PASS DP=75;FS=13.488;MQ=60.00;MQRankSum=3.098;QD=5.28;ReadPosRankSum=0.282;SOR=2.430;FractionInformativeReads=0.813;DB GT:AD:DP:GQ:PL:SB 0/1:32,29:61:99:433,0,516:12,20,4,25
92
- 2 215674090 rs35933323 T G 2007.68 PASS DP=147;FS=1.315;MQ=60.00;MQRankSum=0.409;QD=13.66;ReadPosRankSum=0.750;SOR=0.580;FractionInformativeReads=1.000;DB;AC=169036;AC_OTH=3753;AC_POPMAX=27084;AF=7.39382e-01;AF_OTH=7.23958e-01;AF_POPMAX=8.21275e-01;AN=228618;AN_OTH=5184;AN_POPMAX=32978;AS_FilterStatus=PASS;Hom=62885;InbreedingCoeff=3.07000e-02;POPMAX=AMR GT:AD:DP:GQ:PL:SB 0/1:70,77:147:99:2036,0,1855:43,27,45,32
93
- 2 215674323 rs1129804 C G 332.08 PASS DP=30;FS=1.527;MQ=60.00;MQRankSum=0.953;QD=11.07;ReadPosRankSum=-1.334;SOR=1.034;FractionInformativeReads=1.000;DB;AC=98896;AC_OTH=2647;AC_POPMAX=19564;AF=7.34031e-01;AF_OTH=7.20076e-01;AF_POPMAX=8.15847e-01;AN=134730;AN_OTH=3676;AN_POPMAX=23980;AS_FilterStatus=PASS;Hom=36588;InbreedingCoeff=1.18000e-01;POPMAX=AMR GT:AD:DP:GQ:PL:SB 0/1:18,12:30:99:360,0,1014:6,12,3,9
94
- 2 215674341 rs17489363 A G 187.5 PASS DP=23;FS=0.000;MQ=60.00;MQRankSum=-2.766;QD=8.15;ReadPosRankSum=1.155;SOR=0.904;FractionInformativeReads=1.000;DB;AC=96141;AC_OTH=2588;AC_POPMAX=19360;AF=7.33464e-01;AF_OTH=7.18490e-01;AF_POPMAX=8.15914e-01;AN=131078;AN_OTH=3602;AN_POPMAX=23728;AS_FilterStatus=PASS;Hom=35543;InbreedingCoeff=1.27400e-01;POPMAX=AMR GT:AD:DP:GQ:PL:SB 0/1:17,6:23:99:216,0,956:7,10,2,4
95
- 3 10191523 . T G 109.43 QDFilter DP=166;FS=48.789;MQ=60.00;MQRankSum=0.926;QD=0.66;ReadPosRankSum=0.004;SOR=5.693;FractionInformativeReads=1.000 GT:AD:DP:GQ:PL:SB 0/1:131,35:166:99:138,0,3431:89,42,35,0
96
- 3 37083740 rs9876116 A G 2712.47 PASS DP=203;FS=0.000;MQ=60.00;MQRankSum=-1.370;QD=13.36;ReadPosRankSum=-0.860;SOR=0.662;FractionInformativeReads=0.995;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000249:c.1668-19A>G;AC=91015;AC_OTH=2066;AC_POPMAX=49473;AF=3.71126e-01;AF_OTH=3.78388e-01;AF_POPMAX=4.45679e-01;AN=245240;AN_OTH=5460;AN_POPMAX=111006;AS_FilterStatus=PASS;Hom=18383;InbreedingCoeff=5.16000e-02;POPMAX=NFE GT:AD:DP:GQ:PL:SB 0/1:103,99:202:99:2741,0,2764:46,57,45,54
97
- 5 112103135 . T C 353.83 PASS DP=25;FS=0.000;MQ=60.00;MQRankSum=-1.341;QD=14.15;ReadPosRankSum=-0.301;SOR=0.495;FractionInformativeReads=1.000;AC=1;AC_OTH=0;AC_POPMAX=1;AF=4.34628e-06;AF_OTH=0.00000e+00;AF_POPMAX=9.66277e-06;AN=230082;AN_OTH=5148;AN_POPMAX=103490;AS_FilterStatus=PASS;Hom=0;InbreedingCoeff=3.20000e-03;POPMAX=NFE GT:AD:DP:GQ:PL:SB 0/1:14,11:25:99:382,0,510:0,14,0,11
98
- 5 112162854 rs2229992 T C 5179.7 PASS DP=156;FS=0.000;MQ=60.00;QD=33.20;SOR=1.186;FractionInformativeReads=1.000;DB;GMEAC=1130856;GMEAF=0.568983;EMV_CLASSIFICATION=Benign;HGVS=NM_000038:c.1458T>C;AC=143908;AC_OTH=3317;AC_POPMAX=23443;AF=5.85411e-01;AF_OTH=6.07064e-01;AF_POPMAX=6.99499e-01;AN=245824;AN_OTH=5464;AN_POPMAX=33514;AS_FilterStatus=PASS;Hom=43904;InbreedingCoeff=5.69000e-02;POPMAX=AMR GT:AD:DP:GQ:PL:SB 1/1:0,156:156:99:5208,467,0:0,0,62,94
99
- 5 112164561 rs351771 G A 5919.51 PASS DP=167;FS=0.000;MQ=60.00;QD=27.67;SOR=2.046;FractionInformativeReads=1.000;DB;GMEAC=1255729;GMEAF=0.632560;EMV_CLASSIFICATION=Benign;HGVS=NM_000038:c.1635G>A;AC=159619;AC_OTH=3586;AC_POPMAX=14130;AF=6.49301e-01;AF_OTH=6.55097e-01;AF_POPMAX=8.21798e-01;AN=245832;AN_OTH=5474;AN_POPMAX=17194;AS_FilterStatus=PASS;Hom=52792;InbreedingCoeff=3.25000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 1/1:0,167:167:99:5948,500,0:0,0,121,46
100
- 5 112175770 rs41115 G A 7515.59 PASS DP=225;FS=0.000;MQ=60.00;QD=33.40;SOR=0.738;FractionInformativeReads=1.000;DB;GMEAC=1252734;GMEAF=0.630413;EMV_CLASSIFICATION=Benign;HGVS=NM_000038:c.4479G>A;AC=159537;AC_OTH=3592;AC_POPMAX=14170;AF=6.49581e-01;AF_OTH=6.56673e-01;AF_POPMAX=8.21735e-01;AN=245600;AN_OTH=5470;AN_POPMAX=17244;AS_FilterStatus=PASS;Hom=52779;InbreedingCoeff=3.24000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 1/1:0,225:225:99:7544,675,0:0,0,110,115
101
- 5 112176325 rs42427 G A 4793.32 PASS DP=144;FS=0.000;MQ=60.00;QD=33.29;SOR=1.179;FractionInformativeReads=0.993;DB;GMEAC=1267719;GMEAF=0.637966;EMV_CLASSIFICATION=Benign;HGVS=NM_000038:c.5034G>A;AC=159652;AC_OTH=3594;AC_POPMAX=14128;AF=6.52440e-01;AF_OTH=6.59450e-01;AF_POPMAX=8.21873e-01;AN=244700;AN_OTH=5450;AN_POPMAX=17190;AS_FilterStatus=PASS;Hom=53006;InbreedingCoeff=3.11000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 1/1:0,143:143:99:4822,429,0:0,0,57,86
102
- 5 112176559 rs866006 T G 1758.52 PASS DP=51;FS=0.000;MQ=60.00;QD=34.48;SOR=1.201;FractionInformativeReads=1.000;DB;GMEAC=1262724;GMEAF=0.635448;EMV_CLASSIFICATION=Benign;HGVS=NM_000038:c.5268T>G;AC=159750;AC_OTH=3590;AC_POPMAX=14155;AF=6.51318e-01;AF_OTH=6.57028e-01;AF_POPMAX=8.21342e-01;AN=245272;AN_OTH=5464;AN_POPMAX=17234;AS_FilterStatus=PASS;Hom=52989;InbreedingCoeff=3.41000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 1/1:0,51:51:99:1787,153,0:0,0,31,20
103
- 5 112176756 rs459552 T A 5421.22 PASS DP=156;FS=0.000;MQ=60.00;MQRankSum=1.598;QD=34.75;ReadPosRankSum=1.464;SOR=1.287;FractionInformativeReads=0.994;DB;GMEAC=1623361;GMEAF=0.818044;HGMD_ACCESSION=CM990164;HGMD_CLASSIFICATION=DP;EMV_CLASSIFICATION=Benign;HGVS=NM_000038:c.5465T>A;AC=194769;AC_OTH=4307;AC_POPMAX=14646;AF=7.93764e-01;AF_OTH=7.89117e-01;AF_POPMAX=9.59513e-01;AN=245374;AN_OTH=5458;AN_POPMAX=15264;AS_FilterStatus=PASS;Hom=77927;InbreedingCoeff=2.93000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:1,154:155:99:5449,424,0:0,1,100,54
104
- 5 112177171 rs465899 G A 4173.79 PASS DP=123;FS=0.000;MQ=60.00;MQRankSum=0.369;QD=33.93;ReadPosRankSum=1.221;SOR=0.324;FractionInformativeReads=0.992;DB;GMEAC=1261725;GMEAF=0.634945;EMV_CLASSIFICATION=Benign;HGVS=NM_000038:c.5880G>A;AC=159530;AC_OTH=3595;AC_POPMAX=14150;AF=6.49732e-01;AF_OTH=6.56741e-01;AF_POPMAX=8.21814e-01;AN=245532;AN_OTH=5474;AN_POPMAX=17218;AS_FilterStatus=PASS;Hom=52777;InbreedingCoeff=3.22000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 1/1:1,121:122:99:4202,324,0:0,1,54,67
105
- 5 112178795 rs2229995 G A 3550.77 PASS DP=264;FS=1.478;MQ=60.00;MQRankSum=1.783;QD=13.45;ReadPosRankSum=0.975;SOR=0.587;FractionInformativeReads=1.000;DB;GMEAC=311955;GMEAF=0.015609;HGMD_ACCESSION=CM042292;HGMD_CLASSIFICATION=DM?;EMV_CLASSIFICATION=Benign;HGVS=NM_000038:c.7504G>A;AC=4922;AC_OTH=128;AC_POPMAX=935;AF=2.00068e-02;AF_OTH=2.33491e-02;AF_POPMAX=4.19320e-02;AN=246016;AN_OTH=5482;AN_POPMAX=22298;AS_FilterStatus=PASS;Hom=70;InbreedingCoeff=8.60000e-03;POPMAX=FIN GT:AD:DP:GQ:PL:SB 0/1:136,128:264:99:3579,0,3790:74,62,66,62
106
- 5 131892979 rs4526098 G A 1506.2 PASS DP=45;FS=0.000;MQ=60.00;QD=33.47;SOR=1.280;FractionInformativeReads=1.000;DB;AC=241246;AC_OTH=5420;AC_POPMAX=17247;AF=9.79711e-01;AF_OTH=9.88690e-01;AF_POPMAX=9.99942e-01;AN=246242;AN_OTH=5482;AN_POPMAX=17248;AS_FilterStatus=PASS;Hom=118616;InbreedingCoeff=1.72100e-01;POPMAX=EAS GT:AD:DP:GQ:PL:SB 1/1:0,45:45:99:1534,135,0:0,0,28,17
107
- 7 6022626 rs1805326 C T 412.0 MQFilter DP=38;FS=1.303;MQ=29.95;MQRankSum=-0.629;QD=10.84;ReadPosRankSum=-0.219;SOR=1.115;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000535:c.2007-4G>A;AC=24029;AC_OTH=576;AC_POPMAX=3080;AF=1.60084e-01;AF_OTH=1.51659e-01;AF_POPMAX=2.86992e-01;AN=150102;AN_OTH=3798;AN_POPMAX=10732;AS_FilterStatus=PASS;Hom=1952;InbreedingCoeff=2.80000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 0/1:18,20:38:99:440,0,386:10,8,13,7
108
- 7 6026775 rs2228006 T C 3683.33 PASS DP=97;FS=0.000;MQ=56.02;QD=30.03;SOR=0.892;FractionInformativeReads=1.000;DB;GMEAC=1745241;GMEAF=0.878651;HGMD_ACCESSION=BM1497492;HGMD_CLASSIFICATION=R;EMV_CLASSIFICATION=Benign;HGVS=NM_000535:c.1621A>G;AC=206446;AC_OTH=4555;AC_POPMAX=13955;AF=8.40736e-01;AF_OTH=8.31812e-01;AF_POPMAX=9.25889e-01;AN=245554;AN_OTH=5476;AN_POPMAX=15072;AS_FilterStatus=PASS;Hom=87611;InbreedingCoeff=4.57000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:0,97:97:99:3712,291,0:0,0,44,53
109
- 7 6026988 rs1805321 G A 4337.15 PASS DP=316;FS=6.666;MQ=58.33;MQRankSum=0.443;QD=13.73;ReadPosRankSum=-0.586;SOR=0.590;FractionInformativeReads=1.000;DB;GMEAC=9061080;GMEAF=0.456193;EMV_CLASSIFICATION=Benign;HGVS=NM_000535:c.1408C>T;AC=95521;AC_OTH=2155;AC_POPMAX=4438;AF=3.87906e-01;AF_OTH=3.92961e-01;AF_POPMAX=4.50558e-01;AN=246248;AN_OTH=5484;AN_POPMAX=9850;AS_FilterStatus=PASS;Hom=18823;InbreedingCoeff=1.21000e-02;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 0/1:160,156:316:99:4365,0,4571:89,71,75,81
110
- 7 6036980 rs1805319 G C 3018.02 PASS DP=93;FS=0.000;MQ=60.00;QD=32.45;SOR=0.901;FractionInformativeReads=1.000;DB;GMEAC=1670316;GMEAF=0.840886;EMV_CLASSIFICATION=Benign;HGVS=NM_000535:c.780C>G;AC=196619;AC_OTH=4361;AC_POPMAX=15897;AF=8.01512e-01;AF_OTH=7.97549e-01;AF_POPMAX=9.23064e-01;AN=245310;AN_OTH=5468;AN_POPMAX=17222;AS_FilterStatus=PASS;Hom=79497;InbreedingCoeff=3.49000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 1/1:0,93:93:99:3046,279,0:0,0,51,42
111
- 7 6037057 rs60794673 GA G 309.11 PASS DP=61;FS=9.310;MQ=60.00;MQRankSum=-2.073;QD=5.07;ReadPosRankSum=0.022;SOR=2.110;FractionInformativeReads=0.754;DB GT:AD:DP:GQ:PL:SB 0/1:21,25:46:99:346,0,302:9,12,5,20
112
- 7 6038722 rs62456182 T C 1457.92 PASS DP=89;FS=0.891;MQ=60.00;MQRankSum=-0.303;QD=16.38;ReadPosRankSum=1.099;SOR=0.571;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000535:c.705+17A>G;AC=90720;AC_OTH=2050;AC_POPMAX=4259;AF=3.68445e-01;AF_OTH=3.73951e-01;AF_POPMAX=4.32561e-01;AN=246224;AN_OTH=5482;AN_POPMAX=9846;AS_FilterStatus=PASS;Hom=17259;InbreedingCoeff=2.03000e-02;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 0/1:38,51:89:99:1486,0,1016:28,10,36,15
113
- 7 116381121 rs112241458 GT G 304.45 PASS DP=68;FS=0.000;MQ=60.00;MQRankSum=-0.605;QD=4.48;ReadPosRankSum=-1.039;SOR=0.478;FractionInformativeReads=0.662;DB GT:AD:DP:GQ:PL:SB 0/1:25,20:45:99:342,0,432:3,22,3,17
114
- 7 116409675 rs753027677 CTT C,CT 2783.76 PASS DP=168;FS=1.665;MQ=60.00;MQRankSum=0.775;QD=16.57;ReadPosRankSum=0.569;SOR=0.333;FractionInformativeReads=0.792;DB GT:AD:DP:GQ:PL:SB 1/2:6,44,83:133:99:2821,1731,1847,670,0,463:2,4,62,65
115
- 9 21968199 rs11515 C G 3297.05 PASS DP=97;FS=0.000;MQ=60.00;QD=33.99;SOR=1.337;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000077:c.*29G>C;AC=216920;AC_OTH=4723;AC_POPMAX=16866;AF=8.81416e-01;AF_OTH=8.61233e-01;AF_POPMAX=9.77966e-01;AN=246104;AN_OTH=5484;AN_POPMAX=17246;AS_FilterStatus=PASS;Hom=95916;InbreedingCoeff=2.24000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 1/1:0,97:97:99:3325,289,0:0,0,61,36
116
- 9 97873957 rs4647534 A G 1294.56 PASS DP=97;FS=4.043;MQ=60.00;MQRankSum=-2.205;QD=13.35;ReadPosRankSum=1.231;SOR=0.394;FractionInformativeReads=1.000;DB;AC=115676;AC_OTH=2443;AC_POPMAX=10749;AF=4.72954e-01;AF_OTH=4.46618e-01;AF_POPMAX=6.24506e-01;AN=244582;AN_OTH=5470;AN_POPMAX=17212;AS_FilterStatus=PASS;Hom=28309;InbreedingCoeff=2.68000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 0/1:47,50:97:99:1323,0,1273:13,34,18,32
117
- 9 98221861 rs2236406 T C 1046.9 PASS DP=70;FS=0.943;MQ=60.00;MQRankSum=-0.121;QD=14.96;ReadPosRankSum=1.979;SOR=0.855;FractionInformativeReads=1.000;DB;AC=84563;AC_OTH=1849;AC_POPMAX=10248;AF=3.43869e-01;AF_OTH=3.37655e-01;AF_POPMAX=6.70330e-01;AN=245916;AN_OTH=5476;AN_POPMAX=15288;AS_FilterStatus=PASS;Hom=16079;InbreedingCoeff=4.81000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 0/1:27,43:70:99:1075,0,671:16,11,27,16
118
- 9 98229389 rs2066829 C G 1065.87 PASS DP=78;FS=0.946;MQ=60.00;MQRankSum=0.610;QD=13.66;ReadPosRankSum=0.350;SOR=0.920;FractionInformativeReads=1.000;DB;AC=85078;AC_OTH=1874;AC_POPMAX=9977;AF=3.46440e-01;AF_OTH=3.42471e-01;AF_POPMAX=6.52433e-01;AN=245578;AN_OTH=5472;AN_POPMAX=15292;AS_FilterStatus=PASS;Hom=16169;InbreedingCoeff=4.39000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 0/1:41,37:78:99:1094,0,1053:28,13,27,10
119
- 9 98238358 rs2066836 G A 1367.39 PASS DP=124;FS=3.283;MQ=60.00;MQRankSum=-0.080;QD=11.03;ReadPosRankSum=1.905;SOR=0.463;FractionInformativeReads=1.000;DB;GMEAC=3461638;GMEAF=0.174395;AC=42313;AC_OTH=1017;AC_POPMAX=2567;AF=1.72484e-01;AF_OTH=1.85584e-01;AF_POPMAX=2.61033e-01;AN=245316;AN_OTH=5480;AN_POPMAX=9834;AS_FilterStatus=PASS;Hom=4250;InbreedingCoeff=3.20000e-02;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 0/1:67,57:124:99:1396,0,1747:42,25,32,25
120
- 9 98270646 rs587780530 T TGCC 100.27 PASS DP=21;FS=0.000;MQ=60.00;MQRankSum=-0.495;QD=4.77;ReadPosRankSum=-0.354;SOR=0.412;FractionInformativeReads=0.667;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000264:c.-6_-4dupGGC GT:AD:DP:GQ:PL:SB 0/1:10,4:14:99:138,0,398:4,6,2,2
121
- 10 43595968 rs1800858 A G 10224.38 PASS DP=313;FS=0.000;MQ=60.00;QD=32.67;SOR=1.005;FractionInformativeReads=1.000;DB;GMEAC=1471515;GMEAF=0.740685;HGMD_ACCESSION=CM020759;HGMD_CLASSIFICATION=DP;EMV_CLASSIFICATION=Benign;HGVS=NM_020975:c.135A>G;AC=178746;AC_OTH=4000;AC_POPMAX=14521;AF=7.30852e-01;AF_OTH=7.32064e-01;AF_POPMAX=9.53823e-01;AN=244572;AN_OTH=5464;AN_POPMAX=15224;AS_FilterStatus=PASS;Hom=66092;InbreedingCoeff=2.99000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:0,313:313:99:10253,940,0:0,0,178,135
122
- 10 43606687 rs1800860 A G 3993.6 PASS DP=305;FS=1.397;MQ=60.00;MQRankSum=3.528;QD=13.09;ReadPosRankSum=-0.092;SOR=0.783;FractionInformativeReads=1.000;DB;GMEAC=1558428;GMEAF=0.784491;HGMD_ACCESSION=CM033447;HGMD_CLASSIFICATION=DP;EMV_CLASSIFICATION=Benign;HGVS=NM_020975:c.1296A>G;AC=171112;AC_OTH=3826;AC_POPMAX=13219;AF=6.95594e-01;AF_OTH=6.97920e-01;AF_POPMAX=8.63987e-01;AN=245994;AN_OTH=5482;AN_POPMAX=15300;AS_FilterStatus=PASS;Hom=60395;InbreedingCoeff=3.08000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 0/1:151,154:305:99:4022,0,3555:92,59,97,57
123
- 10 43612226 rs760466 C T 1076.0 PASS DP=35;FS=0.000;MQ=60.00;MQRankSum=0.612;QD=30.74;ReadPosRankSum=1.019;SOR=1.609;FractionInformativeReads=0.971;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_020975:c.2284+47C>T;AC=46019;AC_OTH=1031;AC_POPMAX=28193;AF=2.07609e-01;AF_OTH=2.16870e-01;AF_POPMAX=2.77665e-01;AN=221662;AN_OTH=4754;AN_POPMAX=101536;AS_FilterStatus=PASS;Hom=5697;InbreedingCoeff=9.23000e-02;POPMAX=NFE GT:AD:DP:GQ:PL:SB 1/1:1,33:34:90:1104,90,0:0,1,6,27
124
- 10 43613843 rs1800861 G T 5478.15 PASS DP=166;FS=0.000;MQ=60.00;MQRankSum=0.981;QD=33.00;ReadPosRankSum=0.167;SOR=0.562;FractionInformativeReads=1.000;DB;GMEAC=1524462;GMEAF=0.767372;HGMD_ACCESSION=CM014825;HGMD_CLASSIFICATION=DP;EMV_CLASSIFICATION=Benign;HGVS=NM_020975:c.2307G>T;AC=181651;AC_OTH=4158;AC_POPMAX=13540;AF=7.39176e-01;AF_OTH=7.59313e-01;AF_POPMAX=8.86010e-01;AN=245748;AN_OTH=5476;AN_POPMAX=15282;AS_FilterStatus=PASS;Hom=68119;InbreedingCoeff=3.86000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:1,165:166:99:5506,456,0:1,0,105,60
125
- 10 43622217 rs2075912 T C 8120.47 PASS DP=264;FS=0.000;MQ=60.00;MQRankSum=1.078;QD=30.76;ReadPosRankSum=1.152;SOR=0.206;FractionInformativeReads=0.996;DB;HGMD_ACCESSION=CS032426;HGMD_CLASSIFICATION=DP;EMV_CLASSIFICATION=Benign;HGVS=NM_020975:c.3187+47T>C;AC=182343;AC_OTH=4249;AC_POPMAX=13051;AF=7.90877e-01;AF_OTH=8.10259e-01;AF_POPMAX=9.18567e-01;AN=230558;AN_OTH=5244;AN_POPMAX=14208;AS_FilterStatus=PASS;Hom=72912;InbreedingCoeff=5.10000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:2,261:263:99:8149,703,0:0,2,107,154
126
- 10 89720633 rs771859047 CT C 33.21 PASS DP=123;FS=0.000;MQ=59.85;MQRankSum=-2.021;QD=0.27;ReadPosRankSum=0.174;SOR=0.605;FractionInformativeReads=0.967;DB GT:AD:DP:GQ:PL:SB 0/1:101,18:119:70:70,0,2109:78,23,14,4
127
- 10 89720907 rs555895 T G 2326.73 PASS DP=235;FS=1.035;MQ=58.27;MQRankSum=-3.395;QD=9.90;ReadPosRankSum=-0.559;SOR=0.780;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000314:c.1026+32T>G;AC=90864;AC_OTH=2055;AC_POPMAX=7438;AF=3.72580e-01;AF_OTH=3.78314e-01;AF_POPMAX=5.00538e-01;AN=243878;AN_OTH=5432;AN_POPMAX=14860;AS_FilterStatus=PASS;Hom=17524;InbreedingCoeff=2.05000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 0/1:141,94:235:99:2355,0,3902:60,81,38,56
128
- 11 64572018 rs2959656 T C 8940.87 PASS DP=281;FS=0.000;MQ=60.00;QD=31.82;SOR=1.162;FractionInformativeReads=1.000;DB;GMEAC=190878;GMEAF=0.960725;HGMD_ACCESSION=CM085535;HGMD_CLASSIFICATION=DFP;EMV_CLASSIFICATION=Benign;HGVS=NM_130799:c.1621A>G;AC=230904;AC_OTH=5240;AC_POPMAX=111155;AF=9.39046e-01;AF_OTH=9.55856e-01;AF_POPMAX=9.95888e-01;AN=245892;AN_OTH=5482;AN_POPMAX=111614;AS_FilterStatus=PASS;Hom=109716;InbreedingCoeff=1.85000e-01;POPMAX=NFE GT:AD:DP:GQ:PL:SB 1/1:0,281:281:99:8969,842,0:0,0,113,168
129
- 11 64572557 rs540012 A G 9274.04 PASS DP=256;FS=0.000;MQ=60.00;QD=29.46;SOR=0.825;FractionInformativeReads=1.000;DB;GMEAC=19797;GMEAF=0.996475;EMV_CLASSIFICATION=Benign;HGVS=NM_130799:c.1299T>C;AC=244692;AC_OTH=5467;AC_POPMAX=9848;AF=9.94351e-01;AF_OTH=9.96537e-01;AF_POPMAX=1.00000e+00;AN=246082;AN_OTH=5486;AN_POPMAX=9848;AS_FilterStatus=PASS;Hom=121701;InbreedingCoeff=5.93000e-02;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 1/1:0,256:256:99:9302,780,0:0,0,136,120
130
- 11 64572602 rs2071313 G A 2978.85 PASS DP=278;FS=0.000;MQ=60.00;MQRankSum=-0.763;QD=10.72;ReadPosRankSum=-0.013;SOR=0.717;FractionInformativeReads=1.000;DB;GMEAC=7821204;GMEAF=0.393756;EMV_CLASSIFICATION=Benign;HGVS=NM_130799:c.1254C>T;AC=96630;AC_OTH=2160;AC_POPMAX=15114;AF=3.92968e-01;AF_OTH=3.94161e-01;AF_POPMAX=4.91033e-01;AN=245898;AN_OTH=5480;AN_POPMAX=30780;AS_FilterStatus=PASS;Hom=20211;InbreedingCoeff=3.80000e-02;POPMAX=SAS GT:AD:DP:GQ:PL:SB 0/1:158,120:278:99:3007,0,4432:76,82,57,63
131
- 11 64577620 rs509606 G C 509.35 PASS DP=28;FS=0.000;MQ=60.00;MQRankSum=0.376;QD=18.19;ReadPosRankSum=1.976;SOR=1.179;FractionInformativeReads=1.000;DB;AC=18976;AC_OTH=444;AC_POPMAX=6255;AF=1.81307e-01;AF_OTH=1.48495e-01;AF_POPMAX=3.02525e-01;AN=104662;AN_OTH=2990;AN_POPMAX=20676;AS_FilterStatus=PASS;Hom=2310;InbreedingCoeff=6.37000e-02;POPMAX=AMR GT:AD:DP:GQ:PL:SB 0/1:11,17:28:99:538,0,301:0,11,0,17
132
- 11 94197260 rs641936 A G 728.98 PASS DP=54;FS=1.329;MQ=60.00;MQRankSum=1.802;QD=13.50;ReadPosRankSum=2.759;SOR=1.085;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_005591:c.1225+19T>C;AC=93588;AC_OTH=2085;AC_POPMAX=15012;AF=3.81553e-01;AF_OTH=3.82709e-01;AF_POPMAX=4.48334e-01;AN=245282;AN_OTH=5448;AN_POPMAX=33484;AS_FilterStatus=PASS;Hom=18125;InbreedingCoeff=1.32000e-02;POPMAX=AMR GT:AD:DP:GQ:PL:SB 0/1:30,24:54:99:757,0,907:7,23,4,20
133
- 11 94225920 rs497763 C T 706.94 PASS DP=61;FS=3.505;MQ=60.00;MQRankSum=2.849;QD=11.59;ReadPosRankSum=-2.416;SOR=0.853;FractionInformativeReads=1.000;DB;AC=115336;AC_OTH=2524;AC_POPMAX=17470;AF=4.68750e-01;AF_OTH=4.60416e-01;AF_POPMAX=5.67872e-01;AN=246050;AN_OTH=5482;AN_POPMAX=30764;AS_FilterStatus=PASS;Hom=27472;InbreedingCoeff=1.49000e-02;POPMAX=SAS GT:AD:DP:GQ:PL:SB 0/1:31,30:61:99:735,0,844:17,14,13,17
134
- 11 108098459 rs2066734;rs766396464 TAA T 4440.29 PASS DP=100;FS=0.000;MQ=60.00;QD=32.38;SOR=1.681;FractionInformativeReads=1.000;DB;AC=107380;AC_OTH=2486;AC_POPMAX=19050;AF=4.36281e-01;AF_OTH=4.53484e-01;AF_POPMAX=5.67471e-01;AN=246126;AN_OTH=5482;AN_POPMAX=33570;AS_FilterStatus=PASS;Hom=24815;InbreedingCoeff=4.20000e-02;POPMAX=AMR GT:AD:DP:GQ:PL:SB 1/1:0,100:100:99:4478,301,0:0,0,68,32
135
- 11 108114661 rs779838075 AT A 79.7 PASS DP=40;FS=0.000;MQ=60.00;MQRankSum=0.483;QD=1.99;ReadPosRankSum=1.017;SOR=0.951;FractionInformativeReads=0.975;DB GT:AD:DP:GQ:PL:SB 0/1:30,9:39:99:117,0,612:24,6,8,1
136
- 11 108121410 rs34325032 C CT 1716.13 PASS DP=121;FS=3.094;MQ=60.00;MQRankSum=-2.194;QD=14.18;ReadPosRankSum=1.718;SOR=0.417;FractionInformativeReads=0.983;DB GT:AD:DP:GQ:PL:SB 0/1:29,90:119:99:1753,0,339:22,7,61,29
137
- 11 108141955 rs373881770 CT C 229.74 PASS DP=56;FS=1.190;MQ=60.00;MQRankSum=0.581;QD=4.10;ReadPosRankSum=0.848;SOR=0.955;FractionInformativeReads=0.946;DB GT:AD:DP:GQ:PL:SB 0/1:36,17:53:99:267,0,676:23,13,12,5
138
- 11 108151707 rs3218681 T TA 959.19 PASS DP=27;FS=0.000;MQ=60.00;QD=31.68;SOR=3.180;FractionInformativeReads=1.000;DB GT:AD:DP:GQ:PL:SB 1/1:0,27:27:84:996,84,0:0,0,23,4
139
- 11 108183167 rs659243 A G 1383.58 PASS DP=44;FS=0.000;MQ=60.00;QD=31.45;SOR=0.990;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000051:c.5948A>G;AC=246114;AC_OTH=5482;AC_POPMAX=15288;AF=1.00000e+00;AF_OTH=1.00000e+00;AF_POPMAX=1.00000e+00;AN=246114;AN_OTH=5482;AN_POPMAX=15288;AS_FilterStatus=PASS;Hom=123057;InbreedingCoeff=0.00000e+00;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:0,44:44:99:1412,132,0:0,0,19,25
140
- 12 58144665 rs2069502 C T 1059.29 PASS DP=67;FS=0.000;MQ=60.00;MQRankSum=1.126;QD=15.81;ReadPosRankSum=-2.026;SOR=0.674;FractionInformativeReads=1.000;DB;AC=87436;AC_OTH=1666;AC_POPMAX=10974;AF=3.55211e-01;AF_OTH=3.03793e-01;AF_POPMAX=6.36248e-01;AN=246152;AN_OTH=5484;AN_POPMAX=17248;AS_FilterStatus=PASS;Hom=17527;InbreedingCoeff=6.86000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 0/1:26,41:67:99:1088,0,650:18,8,28,13
141
- 13 32890572 rs1799943 G A 2119.61 PASS DP=141;FS=0.000;MQ=60.00;MQRankSum=1.137;QD=15.03;ReadPosRankSum=-2.021;SOR=0.719;FractionInformativeReads=1.000;DB;HGMD_ACCESSION=CR068211;HGMD_CLASSIFICATION=DFP;AC=60139;AC_OTH=1326;AC_POPMAX=6437;AF=2.45513e-01;AF_OTH=2.42502e-01;AF_POPMAX=3.74854e-01;AN=244952;AN_OTH=5468;AN_POPMAX=17172;AS_FilterStatus=PASS;Hom=7831;InbreedingCoeff=2.21000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 0/1:67,74:141:99:2148,0,1934:23,44,25,49
142
- 13 32906729 rs144848 A C 1855.68 PASS DP=186;FS=0.000;MQ=60.00;MQRankSum=0.082;QD=9.98;ReadPosRankSum=-2.795;SOR=0.657;FractionInformativeReads=1.000;DB;GMEAC=5531433;GMEAF=0.278449;HGMD_ACCESSION=CM002750;HGMD_CLASSIFICATION=DFP;EMV_CLASSIFICATION=Benign;HGVS=NM_000059:c.1114A>C;AC=68695;AC_OTH=1536;AC_POPMAX=3510;AF=2.79496e-01;AF_OTH=2.81010e-01;AF_POPMAX=3.57143e-01;AN=245782;AN_OTH=5466;AN_POPMAX=9828;AS_FilterStatus=PASS;Hom=10055;InbreedingCoeff=1.62000e-02;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 0/1:114,72:186:99:1884,0,3391:69,45,43,29
143
- 13 32911888 rs1801406 A G 2312.78 PASS DP=168;FS=0.578;MQ=60.00;MQRankSum=-0.999;QD=13.77;ReadPosRankSum=0.183;SOR=0.778;FractionInformativeReads=1.000;DB;GMEAC=5181468;GMEAF=0.260826;EMV_CLASSIFICATION=Benign;HGVS=NM_000059:c.3396A>G;AC=72325;AC_OTH=1626;AC_POPMAX=6587;AF=2.94742e-01;AF_OTH=2.97584e-01;AF_POPMAX=3.81988e-01;AN=245384;AN_OTH=5464;AN_POPMAX=17244;AS_FilterStatus=PASS;Hom=11007;InbreedingCoeff=1.41000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 0/1:88,80:168:99:2341,0,2499:51,37,48,32
144
- 13 32913055 rs206075 A G 4961.12 PASS DP=144;FS=0.000;MQ=60.00;QD=34.45;SOR=0.971;FractionInformativeReads=1.000;DB;GMEAC=195234;GMEAF=0.982880;EMV_CLASSIFICATION=Benign;HGVS=NM_000059:c.4563A>G;AC=244277;AC_OTH=5453;AC_POPMAX=9822;AF=9.94476e-01;AF_OTH=9.96528e-01;AF_POPMAX=1.00000e+00;AN=245634;AN_OTH=5472;AN_POPMAX=9822;AS_FilterStatus=PASS;Hom=121497;InbreedingCoeff=5.60000e-02;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 1/1:0,144:144:99:4989,433,0:0,0,63,81
145
- 13 32915005 rs206076 G C 4870.04 PASS DP=153;FS=0.000;MQ=60.00;QD=31.83;SOR=0.845;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000059:c.6513G>C;AC=233536;AC_OTH=5175;AC_POPMAX=9194;AF=9.94303e-01;AF_OTH=9.96342e-01;AF_POPMAX=1.00000e+00;AN=234874;AN_OTH=5194;AN_POPMAX=9194;AS_FilterStatus=PASS;Hom=116135;InbreedingCoeff=5.87000e-02;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 1/1:0,153:153:99:4898,458,0:0,0,82,71
146
- 13 32929387 rs169547 T C 3233.42 PASS DP=92;FS=0.000;MQ=60.00;QD=26.23;SOR=1.880;FractionInformativeReads=1.000;DB;GMEAC=195030;GMEAF=0.984848;HGMD_ACCESSION=CM960194;HGMD_CLASSIFICATION=DM?;EMV_CLASSIFICATION=Benign;HGVS=NM_000059:c.7397T>C;AC=244758;AC_OTH=5462;AC_POPMAX=9842;AF=9.94984e-01;AF_OTH=9.97443e-01;AF_POPMAX=1.00000e+00;AN=245992;AN_OTH=5476;AN_POPMAX=9842;AS_FilterStatus=PASS;Hom=121794;InbreedingCoeff=5.01000e-02;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 1/1:0,92:92:99:3262,276,0:0,0,27,65
147
- 16 68771372 rs3743674 C T 2968.67 PASS DP=93;FS=0.000;MQ=60.00;QD=31.92;SOR=1.739;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_004360:c.48+6C>T;AC=104774;AC_OTH=3000;AC_POPMAX=7309;AF=8.14956e-01;AF_OTH=8.41279e-01;AF_POPMAX=9.28009e-01;AN=128564;AN_OTH=3566;AN_POPMAX=7876;AS_FilterStatus=PASS;Hom=43188;InbreedingCoeff=1.87500e-01;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 1/1:0,93:93:99:2997,277,0:0,0,64,29
148
- 16 68855966 rs35187787 G A 1153.58 PASS DP=114;FS=8.989;MQ=60.00;MQRankSum=-0.299;QD=10.12;ReadPosRankSum=-3.189;SOR=1.337;FractionInformativeReads=1.000;DB;GMEAC=71979;GMEAF=0.003525;HGMD_ACCESSION=CM994192;HGMD_CLASSIFICATION=DM?;AC=807;AC_OTH=20;AC_POPMAX=541;AF=3.27702e-03;AF_OTH=3.64697e-03;AF_POPMAX=4.84290e-03;AN=246260;AN_OTH=5484;AN_POPMAX=111710;AS_FilterStatus=PASS;Hom=4;InbreedingCoeff=4.30000e-03;POPMAX=NFE GT:AD:DP:GQ:PL:SB 0/1:67,47:114:99:1182,0,1597:32,35,30,17
149
- 17 7579472 rs1042522 G C 3947.32 PASS DP=111;FS=0.000;MQ=60.00;QD=22.75;SOR=0.865;FractionInformativeReads=1.000;DB;HGMD_ACCESSION=CM961374;HGMD_CLASSIFICATION=DFP;EMV_CLASSIFICATION=Benign;HGVS=NM_000546:c.215C>G;AC=164592;AC_OTH=3856;AC_POPMAX=82396;AF=6.68584e-01;AF_OTH=7.02880e-01;AF_POPMAX=7.37813e-01;AN=246180;AN_OTH=5486;AN_POPMAX=111676;AS_FilterStatus=PASS;Hom=56629;InbreedingCoeff=5.57000e-02;POPMAX=NFE GT:AD:DP:GQ:PL:SB 1/1:0,111:111:99:3976,334,0:0,0,51,60
150
- 17 7579801 rs1642785 G C 2883.77 PASS DP=88;FS=0.000;MQ=60.00;MQRankSum=1.175;QD=32.77;ReadPosRankSum=1.713;SOR=3.307;FractionInformativeReads=0.989;DB;HGMD_ACCESSION=CR1413385;HGMD_CLASSIFICATION=FP;EMV_CLASSIFICATION=Benign;HGVS=NM_000546:c.74+38C>G;AC=163840;AC_OTH=3799;AC_POPMAX=80467;AF=6.73823e-01;AF_OTH=7.02218e-01;AF_POPMAX=7.32170e-01;AN=243150;AN_OTH=5410;AN_POPMAX=109902;AS_FilterStatus=PASS;Hom=56219;InbreedingCoeff=3.89000e-02;POPMAX=NFE GT:AD:DP:GQ:PL:SB 1/1:2,85:87:99:2912,234,0:0,2,72,13
151
- 17 29508819 rs765008499 AT A 154.17 PASS DP=44;FS=0.000;MQ=60.00;MQRankSum=0.017;QD=3.50;ReadPosRankSum=1.060;SOR=0.922;FractionInformativeReads=0.795;DB GT:AD:DP:GQ:PL:SB 0/1:23,12:35:99:191,0,431:11,12,5,7
152
- 17 29553485 rs2285892 G A 1683.49 PASS DP=58;FS=0.000;MQ=60.00;QD=29.03;SOR=0.914;FractionInformativeReads=1.000;DB;GMEAC=4951237;GMEAF=0.285797;AC=92408;AC_OTH=1822;AC_POPMAX=10451;AF=3.76862e-01;AF_OTH=3.33577e-01;AF_POPMAX=6.83787e-01;AN=245204;AN_OTH=5462;AN_POPMAX=15284;AS_FilterStatus=PASS;Hom=19270;InbreedingCoeff=5.90000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:0,58:58:99:1712,174,0:0,0,32,26
153
- 17 29559932 rs2066736 C A 2307.33 PASS DP=64;FS=0.000;MQ=60.00;QD=31.10;SOR=1.402;FractionInformativeReads=1.000;DB;AC=89090;AC_OTH=1770;AC_POPMAX=9357;AF=3.64370e-01;AF_OTH=3.24890e-01;AF_POPMAX=6.16241e-01;AN=244504;AN_OTH=5448;AN_POPMAX=15184;AS_FilterStatus=PASS;Hom=17542;InbreedingCoeff=4.20000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:0,64:64:99:2336,192,0:0,0,23,41
154
- 17 29563076 rs59745739 T TG 1981.17 PASS DP=48;FS=0.000;MQ=60.00;QD=28.50;SOR=2.160;FractionInformativeReads=0.979;DB;AC=52570;AC_OTH=955;AC_POPMAX=7188;AF=3.97920e-01;AF_OTH=3.61742e-01;AF_POPMAX=6.41442e-01;AN=132112;AN_OTH=2640;AN_POPMAX=11206;AS_FilterStatus=PASS;Hom=11882;InbreedingCoeff=-1.91700e-01;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:0,47:47:99:2018,144,0:0,0,12,35
155
- 17 29563085 rs56874702;rs72813695 T TG 1774.95 PASS DP=40;FS=0.000;MQ=60.00;QD=31.95;SOR=2.191;FractionInformativeReads=1.000;DB;AC=47751;AC_OTH=853;AC_POPMAX=7580;AF=2.50414e-01;AF_OTH=1.99953e-01;AF_POPMAX=6.80309e-01;AN=190688;AN_OTH=4266;AN_POPMAX=11142;AS_FilterStatus=PASS;Hom=10151;InbreedingCoeff=2.63100e-01;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:0,40:40:99:1812,132,0:0,0,10,30
156
- 17 29663625 rs553817239;rs7406039 T TA 240.25 PASS DP=11;FS=0.000;MQ=60.00;QD=21.84;SOR=0.859;FractionInformativeReads=1.000;DB;AC=33611;AC_OTH=732;AC_POPMAX=2867;AF=2.49577e-01;AF_OTH=2.29755e-01;AF_POPMAX=3.48783e-01;AN=134672;AN_OTH=3186;AN_POPMAX=8220;AS_FilterStatus=PASS;Hom=1300;InbreedingCoeff=-7.80000e-03;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:0,11:11:33:278,33,0:0,0,6,5
157
- 17 29670190 rs7405740 C G 721.11 PASS DP=18;FS=0.000;MQ=60.00;QD=29.73;SOR=2.833;FractionInformativeReads=1.000;DB;AC=217339;AC_OTH=4850;AC_POPMAX=28817;AF=9.08175e-01;AF_OTH=9.04176e-01;AF_POPMAX=9.48802e-01;AN=239314;AN_OTH=5364;AN_POPMAX=30372;AS_FilterStatus=PASS;Hom=98897;InbreedingCoeff=2.40000e-02;POPMAX=SAS GT:AD:DP:GQ:PL:SB 1/1:0,18:18:54:749,54,0:0,0,3,15
158
- 17 41223094 rs1799966 T C 3335.67 PASS DP=243;FS=0.983;MQ=60.00;MQRankSum=-1.539;QD=13.73;ReadPosRankSum=1.135;SOR=0.767;FractionInformativeReads=0.996;DB;GMEAC=7581228;GMEAF=0.381672;HGMD_ACCESSION=CM1210129;HGMD_CLASSIFICATION=R;EMV_CLASSIFICATION=Benign;HGVS=NM_007294:c.4837A>G;AC=87283;AC_OTH=1937;AC_POPMAX=15541;AF=3.54601e-01;AF_OTH=3.53209e-01;AF_POPMAX=5.04906e-01;AN=246144;AN_OTH=5484;AN_POPMAX=30780;AS_FilterStatus=PASS;Hom=16323;InbreedingCoeff=2.33000e-02;POPMAX=SAS GT:AD:DP:GQ:PL:SB 0/1:123,119:242:99:3364,0,3433:66,57,66,53
159
- 17 41234470 rs1060915 A G 2475.24 PASS DP=205;FS=1.733;MQ=60.00;MQRankSum=-1.765;QD=12.07;ReadPosRankSum=-0.876;SOR=0.855;FractionInformativeReads=1.000;DB;GMEAC=7351251;GMEAF=0.370091;EMV_CLASSIFICATION=Benign;HGVS=NM_007294:c.4308T>C;AC=85980;AC_OTH=1909;AC_POPMAX=15532;AF=3.49274e-01;AF_OTH=3.48231e-01;AF_POPMAX=5.04646e-01;AN=246168;AN_OTH=5482;AN_POPMAX=30778;AS_FilterStatus=PASS;Hom=15965;InbreedingCoeff=2.70000e-02;POPMAX=SAS GT:AD:DP:GQ:PL:SB 0/1:112,93:205:99:2503,0,3075:50,62,38,55
160
- 17 41244000 rs16942 T C 2265.96 PASS DP=201;FS=5.946;MQ=60.00;MQRankSum=-1.100;QD=11.27;ReadPosRankSum=0.593;SOR=1.077;FractionInformativeReads=1.000;DB;GMEAC=7641222;GMEAF=0.384693;HGMD_ACCESSION=CM058359;HGMD_CLASSIFICATION=DP;EMV_CLASSIFICATION=Benign;HGVS=NM_007294:c.3548A>G;AC=86829;AC_OTH=1927;AC_POPMAX=15535;AF=3.53368e-01;AF_OTH=3.52156e-01;AF_POPMAX=5.04711e-01;AN=245718;AN_OTH=5472;AN_POPMAX=30780;AS_FilterStatus=PASS;Hom=16165;InbreedingCoeff=2.28000e-02;POPMAX=SAS GT:AD:DP:GQ:PL:SB 0/1:114,87:201:99:2294,0,3237:54,60,34,53
161
- 17 41244435 rs16941 T C 4864.04 PASS DP=330;FS=0.000;MQ=60.00;MQRankSum=3.271;QD=14.74;ReadPosRankSum=-0.171;SOR=0.698;FractionInformativeReads=0.997;DB;GMEAC=7371249;GMEAF=0.371098;HGMD_ACCESSION=CM032861;HGMD_CLASSIFICATION=DP;EMV_CLASSIFICATION=Benign;HGVS=NM_007294:c.3113A>G;AC=85785;AC_OTH=1905;AC_POPMAX=15524;AF=3.49026e-01;AF_OTH=3.48136e-01;AF_POPMAX=5.04353e-01;AN=245784;AN_OTH=5472;AN_POPMAX=30780;AS_FilterStatus=PASS;Hom=15910;InbreedingCoeff=2.76000e-02;POPMAX=SAS GT:AD:DP:GQ:PL:SB 0/1:152,177:329:99:4892,0,4256:84,68,98,79
162
- 17 41244936 rs799917 G A 3701.65 PASS DP=316;FS=5.961;MQ=60.00;MQRankSum=3.870;QD=11.71;ReadPosRankSum=-1.917;SOR=1.004;FractionInformativeReads=0.997;DB;GMEAC=9321054;GMEAF=0.469285;HGMD_ACCESSION=CM096315;HGMD_CLASSIFICATION=DFP;EMV_CLASSIFICATION=Benign;HGVS=NM_007294:c.2612C>T;AC=99097;AC_OTH=2123;AC_POPMAX=12629;AF=4.03158e-01;AF_OTH=3.87833e-01;AF_POPMAX=8.25533e-01;AN=245802;AN_OTH=5474;AN_POPMAX=15298;AS_FilterStatus=PASS;Hom=22183;InbreedingCoeff=6.83000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 0/1:179,136:315:99:3730,0,4908:93,86,80,56
163
- 17 41245237 rs16940 A G 4157.19 PASS DP=285;FS=2.553;MQ=60.00;MQRankSum=-0.324;QD=14.59;ReadPosRankSum=0.558;SOR=0.698;FractionInformativeReads=0.996;DB;GMEAC=7211265;GMEAF=0.363041;EMV_CLASSIFICATION=Benign;HGVS=NM_007294:c.2311T>C;AC=85559;AC_OTH=1900;AC_POPMAX=15506;AF=3.48191e-01;AF_OTH=3.47222e-01;AF_POPMAX=5.04195e-01;AN=245724;AN_OTH=5472;AN_POPMAX=30754;AS_FilterStatus=PASS;Hom=15828;InbreedingCoeff=2.71000e-02;POPMAX=SAS GT:AD:DP:GQ:PL:SB 0/1:137,147:284:99:4185,0,3785:71,66,71,76
164
- 17 41245466 rs1799949 G A 5547.21 PASS DP=325;FS=1.343;MQ=60.00;MQRankSum=3.999;QD=17.07;ReadPosRankSum=-1.021;SOR=0.603;FractionInformativeReads=1.000;DB;GMEAC=7641222;GMEAF=0.384693;EMV_CLASSIFICATION=Benign;HGVS=NM_007294:c.2082C>T;AC=86878;AC_OTH=1923;AC_POPMAX=15536;AF=3.53326e-01;AF_OTH=3.51554e-01;AF_POPMAX=5.04973e-01;AN=245886;AN_OTH=5470;AN_POPMAX=30766;AS_FilterStatus=PASS;Hom=16184;InbreedingCoeff=2.32000e-02;POPMAX=SAS GT:AD:DP:GQ:PL:SB 0/1:178,147:325:99:5575,0,8270:107,71,85,62
165
- 17 41245471 rs4986850 C T 5393.84 PASS DP=329;FS=0.406;MQ=60.00;MQRankSum=-1.756;QD=16.39;ReadPosRankSum=-0.392;SOR=0.667;FractionInformativeReads=1.000;DB;GMEAC=1251861;GMEAF=0.062941;HGMD_ACCESSION=CM960172;HGMD_CLASSIFICATION=DP;EMV_CLASSIFICATION=Benign;HGVS=NM_007294:c.2077G>A;AC=14435;AC_OTH=357;AC_POPMAX=915;AF=5.87051e-02;AF_OTH=6.52651e-02;AF_POPMAX=9.29311e-02;AN=245890;AN_OTH=5470;AN_POPMAX=9846;AS_FilterStatus=PASS;Hom=551;InbreedingCoeff=1.67000e-02;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 0/1:184,145:329:99:5422,0,8534:109,75,85,60
166
- 17 41256089 rs373413425 AAAAAAAAAGAAAAG A 1112.65 PASS DP=84;FS=1.604;MQ=60.00;MQRankSum=-1.713;QD=13.25;ReadPosRankSum=4.436;SOR=1.251;FractionInformativeReads=0.869;DB GT:AD:DP:GQ:PL:SB 0/1:42,31:73:99:1150,0,1797:37,5,29,2
167
- 17 56798207 rs28363318 T C 298.14 PASS DP=20;FS=0.000;MQ=60.00;MQRankSum=0.760;QD=14.91;ReadPosRankSum=-0.684;SOR=0.941;FractionInformativeReads=1.000;DB;AC=66023;AC_OTH=1770;AC_POPMAX=4215;AF=2.74389e-01;AF_OTH=3.27778e-01;AF_POPMAX=4.31776e-01;AN=240618;AN_OTH=5400;AN_POPMAX=9762;AS_FilterStatus=PASS;Hom=10484;InbreedingCoeff=6.00000e-02;POPMAX=ASJ GT:AD:DP:GQ:PL:SB 0/1:9,11:20:99:326,0,282:2,7,2,9
168
- 17 59760996 rs4986763 A G 2430.61 PASS DP=67;FS=0.000;MQ=60.00;QD=23.67;SOR=1.318;FractionInformativeReads=1.000;DB;GMEAC=1279707;GMEAF=0.644008;AC=146251;AC_OTH=3399;AC_POPMAX=26639;AF=5.97294e-01;AF_OTH=6.22756e-01;AF_POPMAX=7.93962e-01;AN=244856;AN_OTH=5458;AN_POPMAX=33552;AS_FilterStatus=PASS;Hom=45314;InbreedingCoeff=4.64000e-02;POPMAX=AMR GT:AD:DP:GQ:PL:SB 1/1:0,67:67:99:2459,201,0:0,0,25,42
169
- 17 59763347 rs4986764 A G 3057.24 PASS DP=82;FS=0.000;MQ=60.00;QD=29.81;SOR=1.022;FractionInformativeReads=1.000;DB;GMEAC=1277709;GMEAF=0.643001;HGMD_ACCESSION=CM046104;HGMD_CLASSIFICATION=DP;AC=147651;AC_OTH=3430;AC_POPMAX=26840;AF=5.99822e-01;AF_OTH=6.25912e-01;AF_POPMAX=7.99333e-01;AN=246158;AN_OTH=5480;AN_POPMAX=33578;AS_FilterStatus=PASS;Hom=46002;InbreedingCoeff=4.75000e-02;POPMAX=AMR GT:AD:DP:GQ:PL:SB 1/1:0,82:82:99:3085,246,0:0,0,35,47
170
- 17 59763465 rs4986765 T C 3690.9 PASS DP=107;FS=0.000;MQ=60.00;QD=34.49;SOR=0.750;FractionInformativeReads=1.000;DB;GMEAC=1541445;GMEAF=0.775932;AC=176173;AC_OTH=3980;AC_POPMAX=13944;AF=7.15877e-01;AF_OTH=7.27605e-01;AF_POPMAX=9.11849e-01;AN=246094;AN_OTH=5470;AN_POPMAX=15292;AS_FilterStatus=PASS;Hom=64801;InbreedingCoeff=6.24000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 1/1:0,107:107:99:3719,321,0:0,0,55,52
171
- 17 59857809 rs4988351 C G 423.4 PASS DP=19;FS=6.539;MQ=60.00;MQRankSum=1.447;QD=22.28;ReadPosRankSum=0.219;SOR=2.786;FractionInformativeReads=1.000;DB;AC=179367;AC_OTH=3973;AC_POPMAX=12810;AF=7.37262e-01;AF_OTH=7.33296e-01;AF_POPMAX=8.56742e-01;AN=243288;AN_OTH=5418;AN_POPMAX=14952;AS_FilterStatus=PASS;Hom=67544;InbreedingCoeff=5.45000e-02;POPMAX=AFR GT:AD:DP:GQ:PL:SB 0/1:6,13:19:99:452,0,159:2,4,1,12
172
- 18 48584855 rs760402978 A ATT 164.97 PASS DP=69;FS=1.596;MQ=60.00;MQRankSum=1.611;QD=2.39;ReadPosRankSum=-2.031;SOR=0.387;FractionInformativeReads=0.594;DB GT:AD:DP:GQ:PL:SB 0/1:28,13:41:99:202,0,707:5,23,3,10
173
- 19 1219274 rs34928889 G A 1758.54 PASS DP=153;FS=3.091;MQ=60.00;MQRankSum=1.482;QD=11.49;ReadPosRankSum=-1.474;SOR=0.457;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000455:c.375-49G>A;AC=71064;AC_OTH=1735;AC_POPMAX=8965;AF=4.67896e-01;AF_OTH=4.46245e-01;AF_POPMAX=8.55276e-01;AN=151880;AN_OTH=3888;AN_POPMAX=10482;AS_FilterStatus=PASS;Hom=17704;InbreedingCoeff=1.13900e-01;POPMAX=EAS GT:AD:DP:GQ:PL:SB 0/1:85,68:153:99:1787,0,2476:59,26,43,25
174
- 19 1222012 rs2075607 G C 2372.25 PASS DP=193;FS=0.577;MQ=59.94;MQRankSum=-1.285;QD=12.29;ReadPosRankSum=-1.422;SOR=0.780;FractionInformativeReads=1.000;DB;EMV_CLASSIFICATION=Benign;HGVS=NM_000455:c.920+7G>C;AC=30853;AC_OTH=674;AC_POPMAX=3777;AF=1.86351e-01;AF_OTH=1.64712e-01;AF_POPMAX=3.26900e-01;AN=165564;AN_OTH=4092;AN_POPMAX=11554;AS_FilterStatus=PASS;Hom=3149;InbreedingCoeff=8.18000e-02;POPMAX=EAS GT:AD:DP:GQ:PL:SB 0/1:105,88:193:99:2400,0,2787:33,72,26,62
@@ -1,50 +0,0 @@
1
- one,two,three,four,,six,seven,eight,nine,ten,eleven,twelve,thirteen,fourteen,fifteen,sixteen,seventeen,eighteen,nineteen,twenty,twentyone,twentytwo,twentythree,twentyfour,twentyfive,twentysix,twentyseven,twentyeight,twentynine,thirty
2
- 17.99,10.38,122.8,1001,0.1184,0.2776,0.3001,0.1471,0.2419,0.07871,1.095,0.9053,8.589,153.4,0.006399,0.04904,0.05373,0.01587,0.03003,0.006193,25.38,17.33,184.6,2019,0.1622,0.6656,0.7119,0.2654,0.4601,0.1189,0
3
- 20.57,17.77,132.9,1326,0.08474,0.07864,0.0869,0.07017,0.1812,0.05667,0.5435,0.7339,3.398,74.08,0.005225,0.01308,0.0186,0.0134,0.01389,0.003532,24.99,23.41,158.8,1956,0.1238,0.1866,0.2416,0.186,0.275,0.08902,0
4
- 19.69,21.25,130,1203,0.1096,0.1599,0.1974,0.1279,0.2069,0.05999,0.7456,0.7869,4.585,94.03,0.00615,0.04006,0.03832,0.02058,0.0225,0.004571,23.57,25.53,152.5,1709,0.1444,0.4245,0.4504,0.243,0.3613,0.08758,0
5
- 11.42,20.38,77.58,386.1,0.1425,0.2839,0.2414,0.1052,0.2597,0.09744,0.4956,1.156,3.445,27.23,0.00911,0.07458,0.05661,0.01867,0.05963,0.009208,14.91,26.5,98.87,567.7,0.2098,0.8663,0.6869,0.2575,0.6638,0.173,0
6
- 20.29,14.34,135.1,1297,0.1003,0.1328,0.198,0.1043,0.1809,0.05883,0.7572,0.7813,5.438,94.44,0.01149,0.02461,0.05688,0.01885,0.01756,0.005115,22.54,16.67,152.2,1575,0.1374,0.205,0.4,0.1625,0.2364,0.07678,0
7
- 12.45,15.7,82.57,477.1,0.1278,0.17,0.1578,0.08089,0.2087,0.07613,0.3345,0.8902,2.217,27.19,0.00751,0.03345,0.03672,0.01137,0.02165,0.005082,15.47,23.75,103.4,741.6,0.1791,0.5249,0.5355,0.1741,0.3985,0.1244,0
8
- 18.25,19.98,119.6,1040,0.09463,0.109,0.1127,0.074,0.1794,0.05742,0.4467,0.7732,3.18,53.91,0.004314,0.01382,0.02254,0.01039,0.01369,0.002179,22.88,27.66,153.2,1606,0.1442,0.2576,0.3784,0.1932,0.3063,0.08368,0
9
- 13.71,20.83,90.2,577.9,0.1189,0.1645,0.09366,0.05985,0.2196,0.07451,0.5835,1.377,3.856,50.96,0.008805,0.03029,0.02488,0.01448,0.01486,0.005412,17.06,28.14,110.6,897,0.1654,0.3682,0.2678,0.1556,0.3196,0.1151,0
10
- 13,21.82,87.5,519.8,0.1273,0.1932,0.1859,0.09353,0.235,0.07389,0.3063,1.002,2.406,24.32,0.005731,0.03502,0.03553,0.01226,0.02143,0.003749,15.49,30.73,106.2,739.3,0.1703,0.5401,0.539,0.206,0.4378,0.1072,0
11
- 12.46,24.04,83.97,475.9,0.1186,0.2396,0.2273,0.08543,0.203,0.08243,0.2976,1.599,2.039,23.94,0.007149,0.07217,0.07743,0.01432,0.01789,0.01008,15.09,40.68,97.65,711.4,0.1853,1.058,1.105,0.221,0.4366,0.2075,0
12
- 16.02,23.24,102.7,797.8,0.08206,0.06669,0.03299,0.03323,0.1528,0.05697,0.3795,1.187,2.466,40.51,0.004029,0.009269,0.01101,0.007591,0.0146,0.003042,19.19,33.88,123.8,1150,0.1181,0.1551,0.1459,0.09975,0.2948,0.08452,0
13
- 15.78,17.89,103.6,781,0.0971,0.1292,0.09954,0.06606,0.1842,0.06082,0.5058,0.9849,3.564,54.16,0.005771,0.04061,0.02791,0.01282,0.02008,0.004144,20.42,27.28,136.5,1299,0.1396,0.5609,0.3965,0.181,0.3792,0.1048,0
14
- 19.17,24.8,132.4,1123,0.0974,0.2458,0.2065,0.1118,0.2397,0.078,0.9555,3.568,11.07,116.2,0.003139,0.08297,0.0889,0.0409,0.04484,0.01284,20.96,29.94,151.7,1332,0.1037,0.3903,0.3639,0.1767,0.3176,0.1023,0
15
- 15.85,23.95,103.7,782.7,0.08401,0.1002,0.09938,0.05364,0.1847,0.05338,0.4033,1.078,2.903,36.58,0.009769,0.03126,0.05051,0.01992,0.02981,0.003002,16.84,27.66,112,876.5,0.1131,0.1924,0.2322,0.1119,0.2809,0.06287,0
16
- 13.73,22.61,93.6,578.3,0.1131,0.2293,0.2128,0.08025,0.2069,0.07682,0.2121,1.169,2.061,19.21,0.006429,0.05936,0.05501,0.01628,0.01961,0.008093,15.03,32.01,108.8,697.7,0.1651,0.7725,0.6943,0.2208,0.3596,0.1431,0
17
- 14.54,27.54,96.73,658.8,0.1139,0.1595,0.1639,0.07364,0.2303,0.07077,0.37,1.033,2.879,32.55,0.005607,0.0424,0.04741,0.0109,0.01857,0.005466,17.46,37.13,124.1,943.2,0.1678,0.6577,0.7026,0.1712,0.4218,0.1341,0
18
- 14.68,20.13,94.74,684.5,0.09867,0.072,0.07395,0.05259,0.1586,0.05922,0.4727,1.24,3.195,45.4,0.005718,0.01162,0.01998,0.01109,0.0141,0.002085,19.07,30.88,123.4,1138,0.1464,0.1871,0.2914,0.1609,0.3029,0.08216,0
19
- 16.13,20.68,108.1,798.8,0.117,0.2022,0.1722,0.1028,0.2164,0.07356,0.5692,1.073,3.854,54.18,0.007026,0.02501,0.03188,0.01297,0.01689,0.004142,20.96,31.48,136.8,1315,0.1789,0.4233,0.4784,0.2073,0.3706,0.1142,0
20
- 19.81,22.15,130,1260,0.09831,0.1027,0.1479,0.09498,0.1582,0.05395,0.7582,1.017,5.865,112.4,0.006494,0.01893,0.03391,0.01521,0.01356,0.001997,27.32,30.88,186.8,2398,0.1512,0.315,0.5372,0.2388,0.2768,0.07615,0
21
- 13.54,14.36,87.46,566.3,0.09779,0.08129,0.06664,0.04781,0.1885,0.05766,0.2699,0.7886,2.058,23.56,0.008462,0.0146,0.02387,0.01315,0.0198,0.0023,15.11,19.26,99.7,711.2,0.144,0.1773,0.239,0.1288,0.2977,0.07259,1
22
- 13.08,15.71,85.63,520,0.1075,0.127,0.04568,0.0311,0.1967,0.06811,0.1852,0.7477,1.383,14.67,0.004097,0.01898,0.01698,0.00649,0.01678,0.002425,14.5,20.49,96.09,630.5,0.1312,0.2776,0.189,0.07283,0.3184,0.08183,1
23
- 9.504,12.44,60.34,273.9,0.1024,0.06492,0.02956,0.02076,0.1815,0.06905,0.2773,0.9768,1.909,15.7,0.009606,0.01432,0.01985,0.01421,0.02027,0.002968,10.23,15.66,65.13,314.9,0.1324,0.1148,0.08867,0.06227,0.245,0.07773,1
24
- 15.34,14.26,102.5,704.4,0.1073,0.2135,0.2077,0.09756,0.2521,0.07032,0.4388,0.7096,3.384,44.91,0.006789,0.05328,0.06446,0.02252,0.03672,0.004394,18.07,19.08,125.1,980.9,0.139,0.5954,0.6305,0.2393,0.4667,0.09946,0
25
- 21.16,23.04,137.2,1404,0.09428,0.1022,0.1097,0.08632,0.1769,0.05278,0.6917,1.127,4.303,93.99,0.004728,0.01259,0.01715,0.01038,0.01083,0.001987,29.17,35.59,188,2615,0.1401,0.26,0.3155,0.2009,0.2822,0.07526,0
26
- 16.65,21.38,110,904.6,0.1121,0.1457,0.1525,0.0917,0.1995,0.0633,0.8068,0.9017,5.455,102.6,0.006048,0.01882,0.02741,0.0113,0.01468,0.002801,26.46,31.56,177,2215,0.1805,0.3578,0.4695,0.2095,0.3613,0.09564,0
27
- 17.14,16.4,116,912.7,0.1186,0.2276,0.2229,0.1401,0.304,0.07413,1.046,0.976,7.276,111.4,0.008029,0.03799,0.03732,0.02397,0.02308,0.007444,22.25,21.4,152.4,1461,0.1545,0.3949,0.3853,0.255,0.4066,0.1059,0
28
- 14.58,21.53,97.41,644.8,0.1054,0.1868,0.1425,0.08783,0.2252,0.06924,0.2545,0.9832,2.11,21.05,0.004452,0.03055,0.02681,0.01352,0.01454,0.003711,17.62,33.21,122.4,896.9,0.1525,0.6643,0.5539,0.2701,0.4264,0.1275,0
29
- 18.61,20.25,122.1,1094,0.0944,0.1066,0.149,0.07731,0.1697,0.05699,0.8529,1.849,5.632,93.54,0.01075,0.02722,0.05081,0.01911,0.02293,0.004217,21.31,27.26,139.9,1403,0.1338,0.2117,0.3446,0.149,0.2341,0.07421,0
30
- 15.3,25.27,102.4,732.4,0.1082,0.1697,0.1683,0.08751,0.1926,0.0654,0.439,1.012,3.498,43.5,0.005233,0.03057,0.03576,0.01083,0.01768,0.002967,20.27,36.71,149.3,1269,0.1641,0.611,0.6335,0.2024,0.4027,0.09876,0
31
- 17.57,15.05,115,955.1,0.09847,0.1157,0.09875,0.07953,0.1739,0.06149,0.6003,0.8225,4.655,61.1,0.005627,0.03033,0.03407,0.01354,0.01925,0.003742,20.01,19.52,134.9,1227,0.1255,0.2812,0.2489,0.1456,0.2756,0.07919,0
32
- 18.63,25.11,124.8,1088,0.1064,0.1887,0.2319,0.1244,0.2183,0.06197,0.8307,1.466,5.574,105,0.006248,0.03374,0.05196,0.01158,0.02007,0.00456,23.15,34.01,160.5,1670,0.1491,0.4257,0.6133,0.1848,0.3444,0.09782,0
33
- 11.84,18.7,77.93,440.6,0.1109,0.1516,0.1218,0.05182,0.2301,0.07799,0.4825,1.03,3.475,41,0.005551,0.03414,0.04205,0.01044,0.02273,0.005667,16.82,28.12,119.4,888.7,0.1637,0.5775,0.6956,0.1546,0.4761,0.1402,0
34
- 17.02,23.98,112.8,899.3,0.1197,0.1496,0.2417,0.1203,0.2248,0.06382,0.6009,1.398,3.999,67.78,0.008268,0.03082,0.05042,0.01112,0.02102,0.003854,20.88,32.09,136.1,1344,0.1634,0.3559,0.5588,0.1847,0.353,0.08482,0
35
- 19.27,26.47,127.9,1162,0.09401,0.1719,0.1657,0.07593,0.1853,0.06261,0.5558,0.6062,3.528,68.17,0.005015,0.03318,0.03497,0.009643,0.01543,0.003896,24.15,30.9,161.4,1813,0.1509,0.659,0.6091,0.1785,0.3672,0.1123,0
36
- 16.13,17.88,107,807.2,0.104,0.1559,0.1354,0.07752,0.1998,0.06515,0.334,0.6857,2.183,35.03,0.004185,0.02868,0.02664,0.009067,0.01703,0.003817,20.21,27.26,132.7,1261,0.1446,0.5804,0.5274,0.1864,0.427,0.1233,0
37
- 16.74,21.59,110.1,869.5,0.0961,0.1336,0.1348,0.06018,0.1896,0.05656,0.4615,0.9197,3.008,45.19,0.005776,0.02499,0.03695,0.01195,0.02789,0.002665,20.01,29.02,133.5,1229,0.1563,0.3835,0.5409,0.1813,0.4863,0.08633,0
38
- 14.25,21.72,93.63,633,0.09823,0.1098,0.1319,0.05598,0.1885,0.06125,0.286,1.019,2.657,24.91,0.005878,0.02995,0.04815,0.01161,0.02028,0.004022,15.89,30.36,116.2,799.6,0.1446,0.4238,0.5186,0.1447,0.3591,0.1014,0
39
- 13.03,18.42,82.61,523.8,0.08983,0.03766,0.02562,0.02923,0.1467,0.05863,0.1839,2.342,1.17,14.16,0.004352,0.004899,0.01343,0.01164,0.02671,0.001777,13.3,22.81,84.46,545.9,0.09701,0.04619,0.04833,0.05013,0.1987,0.06169,1
40
- 14.99,25.2,95.54,698.8,0.09387,0.05131,0.02398,0.02899,0.1565,0.05504,1.214,2.188,8.077,106,0.006883,0.01094,0.01818,0.01917,0.007882,0.001754,14.99,25.2,95.54,698.8,0.09387,0.05131,0.02398,0.02899,0.1565,0.05504,0
41
- 13.48,20.82,88.4,559.2,0.1016,0.1255,0.1063,0.05439,0.172,0.06419,0.213,0.5914,1.545,18.52,0.005367,0.02239,0.03049,0.01262,0.01377,0.003187,15.53,26.02,107.3,740.4,0.161,0.4225,0.503,0.2258,0.2807,0.1071,0
42
- 13.44,21.58,86.18,563,0.08162,0.06031,0.0311,0.02031,0.1784,0.05587,0.2385,0.8265,1.572,20.53,0.00328,0.01102,0.0139,0.006881,0.0138,0.001286,15.93,30.25,102.5,787.9,0.1094,0.2043,0.2085,0.1112,0.2994,0.07146,0
43
- 10.95,21.35,71.9,371.1,0.1227,0.1218,0.1044,0.05669,0.1895,0.0687,0.2366,1.428,1.822,16.97,0.008064,0.01764,0.02595,0.01037,0.01357,0.00304,12.84,35.34,87.22,514,0.1909,0.2698,0.4023,0.1424,0.2964,0.09606,0
44
- 19.07,24.81,128.3,1104,0.09081,0.219,0.2107,0.09961,0.231,0.06343,0.9811,1.666,8.83,104.9,0.006548,0.1006,0.09723,0.02638,0.05333,0.007646,24.09,33.17,177.4,1651,0.1247,0.7444,0.7242,0.2493,0.467,0.1038,0
45
- 13.28,20.28,87.32,545.2,0.1041,0.1436,0.09847,0.06158,0.1974,0.06782,0.3704,0.8249,2.427,31.33,0.005072,0.02147,0.02185,0.00956,0.01719,0.003317,17.38,28,113.1,907.2,0.153,0.3724,0.3664,0.1492,0.3739,0.1027,0
46
- 13.17,21.81,85.42,531.5,0.09714,0.1047,0.08259,0.05252,0.1746,0.06177,0.1938,0.6123,1.334,14.49,0.00335,0.01384,0.01452,0.006853,0.01113,0.00172,16.23,29.89,105.5,740.7,0.1503,0.3904,0.3728,0.1607,0.3693,0.09618,0
47
- 18.65,17.6,123.7,1076,0.1099,0.1686,0.1974,0.1009,0.1907,0.06049,0.6289,0.6633,4.293,71.56,0.006294,0.03994,0.05554,0.01695,0.02428,0.003535,22.82,21.32,150.6,1567,0.1679,0.509,0.7345,0.2378,0.3799,0.09185,0
48
- 8.196,16.84,51.71,201.9,0.086,0.05943,0.01588,0.005917,0.1769,0.06503,0.1563,0.9567,1.094,8.205,0.008968,0.01646,0.01588,0.005917,0.02574,0.002582,8.964,21.96,57.26,242.2,0.1297,0.1357,0.0688,0.02564,0.3105,0.07409,1
49
- 13.17,18.66,85.98,534.6,0.1158,0.1231,0.1226,0.0734,0.2128,0.06777,0.2871,0.8937,1.897,24.25,0.006532,0.02336,0.02905,0.01215,0.01743,0.003643,15.67,27.95,102.8,759.4,0.1786,0.4166,0.5006,0.2088,0.39,0.1179,0
50
- 12.05,14.63,78.04,449.3,0.1031,0.09092,0.06592,0.02749,0.1675,0.06043,0.2636,0.7294,1.848,19.87,0.005488,0.01427,0.02322,0.00566,0.01428,0.002422,13.76,20.7,89.88,582.6,0.1494,0.2156,0.305,0.06548,0.2747,0.08301,1
@@ -1,11 +0,0 @@
1
- browser position chr7:127471196-127495720
2
- browser hide all
3
- track name='ClinGen Gene Curation Triplosensitivity Scores' db=hg19
4
- chr1 100652477 100715409 DBT Not yet evaluated
5
- chr1 103342022 103574052 COL11A1 0
6
- chr1 10535002 10690815 PEX14 0
7
- chr1 10696660 10856733 CASZ1 0
8
- chr1 109419602 109476957 GPSM2 0
9
- chr1 109606997 109618624 TAF13 0
10
- chr1 110091185 110138465 GNAI3 0
11
- chr1 11072678 11085549 TARDBP 0
@@ -1,3 +0,0 @@
1
- "Random Number","Location","Location 2"
2
- 12,"chr1:100..200","chr2:300-400"
3
- 42,"chr2:10000-20000","chr2:40000-50000"
@@ -1,3 +0,0 @@
1
- ref1,start1,end1,ref2,start2,end2
2
- chr1,200,300,chr2,10000,40000
3
- chr4,20000,30000,chr12,80000,90000