|
17
|
1 #Variant Report
|
|
|
2 #2018-08-16 19:00:07.740432
|
|
|
3 #CRAVAT version: hybrid
|
|
|
4 #Analysis done at http://www.cravat.us.
|
|
|
5 #Job Id: cravatgalaxy_20180816_145959
|
|
|
6 #Input file: converted.txt
|
|
|
7 #This report shows analysis results at variant level.
|
|
|
8 #hg38 genomic.
|
|
|
9 #N/A
|
|
|
10 #For more information on CRAVAT, visit http://www.cravat.us.
|
|
|
11
|
|
|
12 Input line ID Chromosome Position Strand Reference base(s) Alternate base(s) Sample ID HUGO symbol Sequence ontology Protein sequence change ClinVar COSMIC ID COSMIC variant count (tissue) Number of samples with variant dbSNP ESP6500 AF (average) gnomAD AF Total gnomAD AF African gnomAD AF American gnomAD AF Ashkenazi Jewish gnomAD AF East Asian gnomAD AF Finnish gnomAD AF Non-Finnish European gnomAD AF Other gnomAD AF South Asian GWAS NHLBI Key (GRASP) GWAS PMID (GRASP) GWAS Phenotype (GRASP) Protein 3D variant In TCGA Mutation Cluster ncRNA Class ncRNA Name Pseudogene Pseudogene Transcript Repeat Class Repeat Family Repeat Name TARGET 1000 Genomes AF UTR/Intron UTR/Intron Gene UTR/Intron All Transcript VEST p-value VEST FDR CGL driver class
|
|
|
13 1 TR1 chr22 30025797 + A T sample_1 MTMR3 MS N1198I 1 rs75623810 0.01134815 0.00229508433352 0.0250541035459 0.000900691498634 1.57942951006e-05 0.00015475085113 0.00778754 0.14523
|
|
|
14 2 TR2 chr22 40418496 - A G sample_1 MKL1 MS S683G COSM149301 stomach(1) 1 rs878756 0.628811 0.483227 intron MKL1 ENST00000618417.1(intron) 0.77158
|
|
|
15 3 TR3 chr22 40419252 + C T sample_1 MKL1 MS A431T 1 rs34736200 0.042344235 0.00952521054761 0.092516658124 0.00484894792524 0.00298626318933 0.00198817839871 0.000953211839214 0.00409191060749 0.00158217417101 ../MuPIT_Interactive?gm=chr22:40419252 0.0279553 intron MKL1 ENST00000618417.1(intron) 0.80893
|
|
|
16 4 TR4 chr22 24719483 + - AGG sample_2 PIWIL3 II F880SF 1 0.0 ../MuPIT_Interactive?gm=chr22:24719483 0 0.47384
|
