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Variant Discovery in High-Throughput Sequencing Data

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Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. Learn more

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Show answered All Planned Not planned Completed Answered No status Sort by votes Newest post Recent activity Votes Comments
  • Broad hg38 ICE interval list Answered
    • Chet Birger
    • February 20, 2020 19:16
    3 votes 17 comments
  • GATK Muteck2 missing call Answered
    • Marco Chiapello
    • September 23, 2022 09:14
    1 vote 2 comments
  • Creating Panel of Normals (PoN) from Blood Sample of cancer patients Answered
    • Ranjan J. Sarma
    • July 05, 2022 08:15
    • Edited
    1 vote 9 comments
  • Problems in subsampling reads for Mutect2 with --max-reads-per-alignment-start Answered
    • yqiu
    • January 06, 2022 00:13
    • Edited
    1 vote 13 comments
  • empty pon vcf file Answered
    • Lait
    • November 03, 2021 14:32
    1 vote 1 comment
  • Mutect2 calls long deletion with absolutely zero read support Answered
    • Brian Wiley
    • October 19, 2021 00:53
    1 vote 3 comments
  • Mutect2 issue with --force-active: not all regions are active Answered
    • Maria Litovchenko
    • September 08, 2021 17:29
    1 vote 25 comments
  • Broad hg19 TWIST interval list Answered
    • Tejas Jammihal
    • January 20, 2021 17:14
    1 vote 4 comments
  • bwa index doesn't create .alt file in hg38 Answered
    • MatZ
    • November 12, 2020 14:15
    1 vote 8 comments
  • GATK 4.3.0.0 Mutect2 fail to call variant Answered
    • yangjw
    • February 17, 2023 00:40
    • Edited
    0 votes 2 comments
  • Panel of Normals creation error: GenomicsDBImport does not support GVCFs with MNPs Answered
    • Ranjan J. Sarma
    • November 02, 2022 07:06
    • Edited
    0 votes 1 comment
  • Mutect2 cannot generate stats file and f1r2.tar.gz file Answered
    • Yi Huang
    • September 21, 2022 07:26
    0 votes 4 comments
  • Picard error (AddOrReplaceReadGroups) Answered
    • Hyesun Cho
    • September 19, 2022 19:57
    0 votes 4 comments
  • Funcotator error: Only IGRs were produced for this dataset Answered
    • Mina
    • September 16, 2022 12:23
    0 votes 4 comments
  • improt gcnvkernel fails. somehting to do with theano lock Answered
    • simon lee
    • September 03, 2022 11:04
    0 votes 3 comments
  • Difference between variants detected using gatk 4.1.8.1 and 4.1.9.0 Answered
    • Nefté Yañez
    • August 31, 2022 06:30
    0 votes 2 comments
  • GenotypeGVCFs Answered
    • Yumi Hashi
    • August 17, 2022 08:15
    0 votes 1 comment
  • GATK4 ModelSegment Error Allelic-count sites must be identical across all samples Answered
    • Linghao Song
    • July 11, 2022 19:56
    0 votes 2 comments
  • Combine two panel-of-normals files Answered
    • Robin Mjelle
    • July 08, 2022 12:03
    0 votes 1 comment
  • Panel of normal issue Answered
    • Simon Haefliger
    • June 29, 2022 08:04
    0 votes 1 comment
  • Funcotator: Unable to open SQLite DB for COSMIC Answered
    • AB
    • June 03, 2022 19:23
    • Edited
    0 votes 7 comments
  • ModelSegments not reading allelic counts file Answered
    • Ross Jackson
    • May 11, 2022 06:36
    0 votes 1 comment
  • ModelSegments - java.lang.IllegalArgumentException: Metadata of the allelic counts and the segments do not match Answered
    • Tony Tan
    • April 19, 2022 02:48
    • Edited
    0 votes 3 comments
  • Error in building panel of normal in somatic copy number variation calling Answered
    • Lei Yu
    • April 04, 2022 21:55
    0 votes 4 comments
  • Contig chr1_KQ031383v1_fix not present in the sequence dictionary Answered
    • zzh
    • March 29, 2022 03:39
    0 votes 5 comments
  • FilterMutectCalls 'haplotype' filter value assigned to variants with different PGT tag Answered
    • Francesco Mazzarotto
    • March 23, 2022 14:16
    0 votes 10 comments
  • A USER ERROR has occurred: Duplicate sample: PD4086bv2. Sample was found in both file Answered
    • jesus ix ballote
    • March 04, 2022 20:34
    0 votes 7 comments
  • In Mutect2 force-calling allele via --alleles does not force-call the allele Answered
    • Rahul Gupta
    • February 04, 2022 17:13
    • Edited
    0 votes 14 comments
  • FilterMutectCalls, --distance-on-haplotype and variants filtered for haplotype Answered
    • ElenaGrassi
    • February 03, 2022 10:28
    0 votes 9 comments
  • Read-orientation filter removes tens of thousands of somatic variants after FilterMutectCalls Answered
    • Santiago Sanchez
    • January 25, 2022 18:21
    0 votes 6 comments
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