Skip to content

Commit

Permalink
Browse files Browse the repository at this point in the history
  • Loading branch information
seppinho committed Jul 4, 2018
2 parents c95a9f1 + 0c062ae commit a8dfb01
Show file tree
Hide file tree
Showing 3 changed files with 28 additions and 0 deletions.
3 changes: 3 additions & 0 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -15,6 +15,9 @@ wget https://github.com/seppinho/mutation-server/releases/download/v1.1.5/mutati
java -jar mutation-server-1.1.5.jar analyse-local --input <input-folder> --reference <ref.fasta> --level 0.01 --outputRaw raw.txt --outputVar var.txt --baq true --baseQ 20 --mapQ 20 --alignQ 30 --indel true
```

## Output Format
We report variants in a TAB delimited file including *SampleID, Position, Reference, Variant & Variant-Level*. Please not that the Variant-Level is always the non-reference level. We also include the the **most** and **second most base** at a specific position (so called Major/Minor Component). The last column includes the type of the variant (1: Homoplasmy, 2: Heteroplasmy or Low-Level Variant, 3: Low-Level Deletion, 4: Deletion, 5: Insertion). See [here](https://raw.githubusercontent.com/seppinho/mutation-server/master/test-data/results/variantsLocal1000G) for an example.

## Citation
If you use this tool, please cite [this paper](http://nar.oxfordjournals.org/content/early/2016/04/15/nar.gkw247.full).

Expand Down
1 change: 1 addition & 0 deletions test-data/results/README.txt
Original file line number Diff line number Diff line change
@@ -0,0 +1 @@

24 changes: 24 additions & 0 deletions test-data/results/variantsLocal1000G
Original file line number Diff line number Diff line change
@@ -0,0 +1,24 @@
SampleID Pos Ref Variant Variant-Level Major/Minor Major-Percentage/Minor-Percentage Coverage-Total
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 10394 C T 0.999 T/- 0.999/0.001 1455 1
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 12410 A G 0.011 A/G 0.989/0.011 1489 2
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 14071 A G 0.011 A/G 0.989/0.011 1672 2
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 1438 A G 1.00 G/- 1.00/0.00 1246 1
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 1456 T C 0.01 T/C 0.988/0.01 1285 2
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 14569 G A 0.575 A/G 0.575/0.424 1555 2
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 152 T C 0.999 C/- 0.999/0.001 1379 1
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 15326 A G 0.999 G/- 0.999/0.001 1315 1
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 15340 A G 1.00 G/- 1.00/0.00 1349 1
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 15463 A G 0.013 A/G 0.988/0.013 1120 2
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 16093 T C 0.595 C/T 0.595/0.404 1407 2
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 16360 C T 0.386 C/T 0.614/0.386 1224 2
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 16519 T C 0.999 C/- 0.999/0.001 838 1
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 263 A G 1.00 G/- 1.00/0.00 1137 1
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 2746 T C 0.025 T/C 0.975/0.025 1378 2
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 303.1 - C 1.00 C/- 1.00/0.00 404 5
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 3107 N D 0.97 D/T 0.97/0.024 1231 4
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 311.1 - C 1.00 C/- 1.00/0.00 401 5
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 3200 T C 0.01 T/C 0.99/0.01 1468 2
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 4769 A G 1.00 G/- 1.00/0.00 704 1
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 750 A G 1.00 G/- 1.00/0.00 910 1
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 8592 G A 1.00 A/- 1.00/0.00 1578 1
HG00096_mapped_ILLUMINA_bwa_GBR_low_coverage_20101123 8860 A G 0.996 G/- 0.996/0.004 270 1

0 comments on commit a8dfb01

Please sign in to comment.