TB-Profiler result

Run: a00227eb-3c26-4e6e-bf2e-da64e40cb948

Summary

Run ID: a00227eb-3c26-4e6e-bf2e-da64e40cb948

Sample name:

Date: 30-04-2024 17:54:05

Number of reads: 3072042

Percentage reads mapped: 96.38

Median coverage: 0

Strain:

Spoligotype:

Drug-resistance: HR-TB


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Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
Drug resistance: This table reports drug-resistance associated mutations found in known resistance genes
Drug Resistance Supporting mutations WHO confidence Comment
rifampicin
isoniazid katG p.Ala109Val Uncertain significance
ethambutol embB p.Glu378Lys Uncertain significance
pyrazinamide pncA p.Gly108Arg Assoc w R - interim
p.Ala102Thr Uncertain significance
moxifloxacin
levofloxacin
bedaquiline
delamanid
pretomanid
linezolid
streptomycin gid p.Trp45* Assoc w R - interim
amikacin
kanamycin
capreomycin
clofazimine
ethionamide ethA p.Trp109* Assoc w R - interim
para-aminosalicylic_acid
cycloserine
Drug resistance-Associated Mutations: This table reports mutations found in candidate resistance genes which have been associated with drug resistance
Gene Chromosome position Mutation Type Estimated fraction Drugs Confidence Comment
katG 2155786 p.Ala109Val missense_variant 0.13 isoniazid Uncertain significance
pncA 2288920 p.Gly108Arg missense_variant 0.17 pyrazinamide Assoc w R - interim
pncA 2288938 p.Ala102Thr missense_variant 0.16 pyrazinamide Uncertain significance
embB 4247645 p.Glu378Lys missense_variant 0.1 ethambutol Uncertain significance
ethA 4327148 p.Trp109* stop_gained 0.29 ethionamide Assoc w R - interim
gid 4408069 p.Trp45* stop_gained 0.21 streptomycin Assoc w R - interim
Non-Associated Mutations: This table reports mutations found in candidate resistance genes which have not been associated with drug resistance
Gene Chromosome position Mutation Type Estimated fraction Drugs Confidence
gyrA 6358 c.-944C>T upstream_gene_variant 0.16 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 6413 c.-889C>T upstream_gene_variant 0.1 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 6421 c.-881C>T upstream_gene_variant 0.27 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrB 6521 p.Arg428Trp missense_variant 0.11 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 6646 c.-656C>T upstream_gene_variant 0.17 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrB 6711 p.Ala491Val missense_variant 0.17 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 6721 c.-581C>T upstream_gene_variant 0.17 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 6736 c.-566C>T upstream_gene_variant 0.2 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 6781 c.-521C>T upstream_gene_variant 0.11 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 6886 c.-416C>T upstream_gene_variant 0.17 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrB 6887 p.Arg550Trp missense_variant 0.17 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 6892 c.-410C>T upstream_gene_variant 0.18 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 6913 c.-389C>T upstream_gene_variant 0.18 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 7585 p.Ser95Thr missense_variant 1.0 fluoroquinolones
moxifloxacin Uncertain significance
levofloxacin Uncertain significance
ciprofloxacin
ofloxacin
gyrA 7655 c.354G>A synonymous_variant 0.1 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 7697 c.396C>T synonymous_variant 0.14 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
rpoB 760769 c.963C>T synonymous_variant 0.11 rifampicin
rpoB 760846 p.Thr347Ile missense_variant 0.58 rifampicin Uncertain significance
rpoB 760879 p.Pro358Leu missense_variant 0.58 rifampicin Uncertain significance
rpoB 760929 p.Val375Ile missense_variant 0.2 rifampicin
rpoB 760932 p.Gly376Ser missense_variant 0.2 rifampicin
rpoB 761141 c.1335C>T synonymous_variant 0.1 rifampicin
rpoB 761204 c.1398C>T synonymous_variant 0.13 rifampicin
rpoB 761218 p.Pro471Leu missense_variant 0.12 rifampicin
rpoB 761351 c.1545C>T synonymous_variant 0.2 rifampicin
mmpR5 779024 p.Ala12Val missense_variant 0.13 clofazimine
bedaquiline
mmpR5 779246 p.Ala86Val missense_variant 0.11 clofazimine
bedaquiline
mmpR5 779407 p.Arg140Trp missense_variant 0.12 clofazimine
bedaquiline
mmpS5 779484 c.-579G>A upstream_gene_variant 0.13 clofazimine
bedaquiline
rplC 801093 c.285C>T synonymous_variant 0.18 linezolid
rrs 1471866 n.21C>T non_coding_transcript_exon_variant 0.16 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1471946 n.101C>T non_coding_transcript_exon_variant 0.11 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472150 n.305T>A non_coding_transcript_exon_variant 0.23 linezolid
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
aminoglycosides
streptomycin
rrs 1472172 n.327T>C non_coding_transcript_exon_variant 0.26 linezolid
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
aminoglycosides
streptomycin
rrs 1472179 n.334C>T non_coding_transcript_exon_variant 0.12 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472225 n.380C>T non_coding_transcript_exon_variant 0.13 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472251 n.406G>A non_coding_transcript_exon_variant 0.22 linezolid
kanamycin
capreomycin
amikacin Uncertain significance
aminoglycosides
streptomycin
rrs 1472294 n.449G>A non_coding_transcript_exon_variant 0.1 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472340 n.495C>T non_coding_transcript_exon_variant 0.17 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472447 n.602C>T non_coding_transcript_exon_variant 0.14 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472487 n.642C>T non_coding_transcript_exon_variant 0.27 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472515 n.670C>T non_coding_transcript_exon_variant 0.13 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472615 n.770C>T non_coding_transcript_exon_variant 0.2 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472697 n.852T>C non_coding_transcript_exon_variant 0.13 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472724 n.879G>A non_coding_transcript_exon_variant 0.1 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472769 n.924C>T non_coding_transcript_exon_variant 0.12 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472801 n.956G>A non_coding_transcript_exon_variant 0.13 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472858 n.1013G>A non_coding_transcript_exon_variant 0.14 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472872 n.1027G>A non_coding_transcript_exon_variant 0.13 linezolid
kanamycin Uncertain significance
capreomycin
amikacin Uncertain significance
aminoglycosides
streptomycin
rrs 1472976 n.1131G>A non_coding_transcript_exon_variant 0.13 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472995 n.1150C>T non_coding_transcript_exon_variant 0.17 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472998 n.1153C>T non_coding_transcript_exon_variant 0.17 linezolid
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
aminoglycosides
streptomycin Uncertain significance
rrs 1473011 n.1166G>A non_coding_transcript_exon_variant 0.14 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1473032 n.1187C>T non_coding_transcript_exon_variant 0.17 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1473037 n.1192C>T non_coding_transcript_exon_variant 0.17 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1473063 n.1218C>T non_coding_transcript_exon_variant 0.12 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1473090 n.1245G>A non_coding_transcript_exon_variant 0.15 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1473128 n.1283C>T non_coding_transcript_exon_variant 0.12 linezolid
kanamycin Uncertain significance
capreomycin
amikacin Uncertain significance
aminoglycosides
streptomycin Uncertain significance
rrs 1473180 n.1335G>A non_coding_transcript_exon_variant 0.1 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1473190 n.1345G>A non_coding_transcript_exon_variant 0.16 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1473204 n.1359C>T non_coding_transcript_exon_variant 0.17 linezolid
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
aminoglycosides
streptomycin
rrs 1473250 n.1405C>T non_coding_transcript_exon_variant 0.18 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1473305 n.1460G>A non_coding_transcript_exon_variant 0.11 linezolid
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
aminoglycosides
streptomycin Uncertain significance
rrs 1473325 n.1480G>A non_coding_transcript_exon_variant 0.17 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1473326 n.1481G>A non_coding_transcript_exon_variant 0.18 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1473373 n.1528C>T non_coding_transcript_exon_variant 0.11 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1473377 n.1532C>T non_coding_transcript_exon_variant 0.11 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrl 1473385 n.-273G>A upstream_gene_variant 0.17 linezolid
rrl 1473401 n.-257G>A upstream_gene_variant 0.18 linezolid
rrl 1473404 n.-254C>T upstream_gene_variant 0.2 linezolid
rrl 1473410 n.-248G>A upstream_gene_variant 0.18 linezolid
rrl 1475978 n.2321C>T non_coding_transcript_exon_variant 0.15 linezolid
rrl 1476006 n.2349G>A non_coding_transcript_exon_variant 0.15 linezolid
rrl 1476008 n.2351A>G non_coding_transcript_exon_variant 0.1 linezolid
rrl 1476055 n.2398C>T non_coding_transcript_exon_variant 0.12 linezolid
rrl 1476246 n.2589G>A non_coding_transcript_exon_variant 0.11 linezolid
rrl 1476380 n.2723G>A non_coding_transcript_exon_variant 0.14 linezolid
rrl 1476444 n.2787G>A non_coding_transcript_exon_variant 0.15 linezolid
rrl 1476530 n.2873C>T non_coding_transcript_exon_variant 0.15 linezolid
rrl 1476587 n.2930C>T non_coding_transcript_exon_variant 0.18 linezolid
inhA 1673493 c.-709C>T upstream_gene_variant 0.1 ethionamide
isoniazid
fabG1 1673770 p.Ala111Pro missense_variant 0.49 ethionamide
isoniazid
inhA 1673868 c.-334C>T upstream_gene_variant 1.0 ethionamide
isoniazid
inhA 1673931 c.-271C>T upstream_gene_variant 1.0 ethionamide
isoniazid
inhA 1674000 c.-202C>T upstream_gene_variant 1.0 ethionamide
isoniazid Uncertain significance
fabG1 1674038 p.Gln200Arg missense_variant 0.2 ethionamide
isoniazid
inhA 1674328 p.Arg43Trp missense_variant 0.2 ethionamide
isoniazid
inhA 1674442 p.Ala81Thr missense_variant 0.1 ethionamide
isoniazid
inhA 1674459 c.258C>T synonymous_variant 0.1 ethionamide
isoniazid
inhA 1674465 c.264C>T synonymous_variant 0.1 ethionamide
isoniazid
inhA 1674529 p.Asp110Asn missense_variant 0.12 ethionamide
isoniazid
inhA 1674571 p.Ala124Thr missense_variant 0.12 ethionamide
isoniazid
inhA 1674597 c.396G>A synonymous_variant 0.11 ethionamide
isoniazid
inhA 1674600 c.399G>A synonymous_variant 0.11 ethionamide
isoniazid
inhA 1674608 p.Pro136Leu missense_variant 0.13 ethionamide
isoniazid
inhA 1674653 p.Pro151Leu missense_variant 0.1 ethionamide
isoniazid
inhA 1674729 c.528G>A synonymous_variant 0.12 ethionamide
isoniazid
inhA 1674772 p.Ala191Thr missense_variant 0.12 ethionamide
isoniazid Uncertain significance
inhA 1674792 c.591G>A synonymous_variant 0.12 ethionamide
isoniazid
inhA 1674803 p.Ala201Val missense_variant 0.1 ethionamide
isoniazid
inhA 1674822 c.621C>T synonymous_variant 0.11 ethionamide
isoniazid
inhA 1674829 p.Glu210Lys missense_variant 0.16 ethionamide
isoniazid
tlyA 1917972 c.33A>G synonymous_variant 1.0 capreomycin
tlyA 1918009 p.Ala24Thr missense_variant 0.55 capreomycin
tlyA 1918138 p.Ala67Thr missense_variant 0.53 capreomycin
tlyA 1918193 p.Arg85His missense_variant 0.53 capreomycin
tlyA 1918253 p.Ala105Val missense_variant 0.34 capreomycin
tlyA 1918255 p.Ala106Thr missense_variant 0.55 capreomycin
tlyA 1918305 c.366G>A synonymous_variant 0.55 capreomycin
tlyA 1918356 c.417C>T synonymous_variant 0.34 capreomycin
tlyA 1918387 c.448C>T synonymous_variant 0.34 capreomycin
tlyA 1918433 p.Pro165Leu missense_variant 0.34 capreomycin
tlyA 1918495 p.Glu186Lys missense_variant 0.53 capreomycin
tlyA 1918533 c.594C>T synonymous_variant 0.36 capreomycin
tlyA 1918623 c.684C>T synonymous_variant 0.39 capreomycin
tlyA 1918656 c.717C>T synonymous_variant 0.38 capreomycin
katG 2155179 c.933C>T synonymous_variant 0.15 isoniazid
katG 2155189 p.Thr308Ile missense_variant 0.14 isoniazid
katG 2155332 c.780C>T synonymous_variant 0.12 isoniazid
katG 2155364 p.Glu250Lys missense_variant 0.13 isoniazid
katG 2155378 p.Ala245Val missense_variant 0.15 isoniazid
katG 2155424 p.Val230Met missense_variant 0.14 isoniazid
katG 2155454 c.658C>T synonymous_variant 0.12 isoniazid
katG 2155487 p.Arg209Cys missense_variant 0.15 isoniazid
katG 2155506 c.606C>T synonymous_variant 0.21 isoniazid
katG 2155511 p.Glu201Lys missense_variant 0.14 isoniazid
katG 2155516 p.Gly199Asp missense_variant 0.14 isoniazid
katG 2155535 p.Pro193Ser missense_variant 0.12 isoniazid
katG 2155602 c.510C>T synonymous_variant 0.12 isoniazid
katG 2155609 p.Ala168Val missense_variant 0.19 isoniazid
katG 2155640 p.Lys158Glu missense_variant 0.1 isoniazid Uncertain significance
katG 2155725 c.387C>T synonymous_variant 0.14 isoniazid
katG 2155755 c.357C>T synonymous_variant 0.14 isoniazid
katG 2155764 c.348C>T synonymous_variant 0.14 isoniazid
katG 2155814 p.Pro100Ser missense_variant 0.11 isoniazid
katG 2155857 c.255C>T synonymous_variant 0.13 isoniazid
pncA 2288915 c.327C>T synonymous_variant 0.17 pyrazinamide
pncA 2288989 c.253C>T synonymous_variant 0.16 pyrazinamide
pncA 2289011 c.231C>T synonymous_variant 0.16 pyrazinamide
pncA 2289045 p.Ser66Leu missense_variant 0.16 pyrazinamide Uncertain significance
pncA 2289047 c.195C>T synonymous_variant 0.13 pyrazinamide
pncA 2289113 c.129C>T synonymous_variant 0.16 pyrazinamide
pncA 2289197 c.45G>A synonymous_variant 0.3 pyrazinamide
pncA 2289292 c.-51C>T upstream_gene_variant 0.16 pyrazinamide
ahpC 2726038 c.-155G>A upstream_gene_variant 0.25 isoniazid
ahpC 2726044 c.-149G>A upstream_gene_variant 0.32 isoniazid
ahpC 2726101 c.-92G>A upstream_gene_variant 0.13 isoniazid
ahpC 2726214 p.Asp8Asn missense_variant 0.21 isoniazid
ahpC 2726369 c.177C>T synonymous_variant 0.12 isoniazid
ahpC 2726479 p.Trp96* stop_gained 0.22 isoniazid
ahpC 2726512 p.Pro107Leu missense_variant 0.12 isoniazid
ahpC 2726572 p.Ala127Val missense_variant 0.1 isoniazid
embB 4247398 c.885G>A synonymous_variant 0.12 ethambutol
embB 4247490 p.Pro326Leu missense_variant 0.11 ethambutol
embB 4247508 p.Trp332* stop_gained 0.11 ethambutol
embB 4247602 c.1089G>A synonymous_variant 0.11 ethambutol
embB 4247618 p.Val369Met missense_variant 0.1 ethambutol Uncertain significance
embB 4247670 p.Ala386Val missense_variant 0.11 ethambutol
embB 4247774 p.Arg421Trp missense_variant 0.11 ethambutol
embB 4247792 p.Arg427Trp missense_variant 0.11 ethambutol
embB 4247803 c.1290G>A synonymous_variant 0.11 ethambutol
embB 4247823 p.Thr437Ile missense_variant 0.11 ethambutol
embB 4247840 p.Gly443Ser missense_variant 0.11 ethambutol Uncertain significance
embB 4247917 c.1404C>T synonymous_variant 0.17 ethambutol
embB 4247990 p.Val493Met missense_variant 0.11 ethambutol Uncertain significance
ethA 4326077 p.Arg466Gln missense_variant 0.14 ethionamide
ethA 4326091 c.1383C>T synonymous_variant 0.1 ethionamide
ethA 4326175 c.1299G>A synonymous_variant 0.12 ethionamide
ethA 4326332 p.Ala381Val missense_variant 0.17 ethionamide
ethA 4326401 p.Gly358Glu missense_variant 0.13 ethionamide
ethA 4326522 p.Glu318Lys missense_variant 0.13 ethionamide
ethA 4326546 p.Val310Ile missense_variant 0.13 ethionamide Uncertain significance
ethA 4326579 p.Gly299Ser missense_variant 0.13 ethionamide
ethA 4326593 p.Cys294Tyr missense_variant 0.12 ethionamide Uncertain significance
ethR 4326733 c.-816C>T upstream_gene_variant 0.12 ethionamide
ethA 4326764 p.Ala237Met missense_variant 0.12 ethionamide
ethA 4326810 p.Ala222Thr missense_variant 0.26 ethionamide Uncertain significance
ethA 4326819 p.Asp219Asn missense_variant 0.26 ethionamide
ethR 4326835 c.-714C>T upstream_gene_variant 0.3 ethionamide
ethA 4326998 p.Gly159Glu missense_variant 0.27 ethionamide
ethR 4327012 c.-537C>T upstream_gene_variant 0.3 ethionamide
ethA 4327044 p.Asp144Asn missense_variant 0.31 ethionamide Uncertain significance
ethA 4327047 p.Tyr143His missense_variant 0.31 ethionamide
ethA 4327059 p.Gly139Ser missense_variant 0.41 ethionamide Uncertain significance
ethA 4327104 p.Gly124Ser missense_variant 0.41 ethionamide
ethR 4327162 c.-387C>T upstream_gene_variant 0.72 ethionamide
ethA 4327197 p.Gly93Arg missense_variant 0.28 ethionamide Uncertain significance
ethA 4327209 p.Ala89Thr missense_variant 0.42 ethionamide
ethA 4327259 p.Arg72Gln missense_variant 0.33 ethionamide
ethR 4327333 c.-216C>T upstream_gene_variant 0.26 ethionamide
ethR 4327360 c.-189C>T upstream_gene_variant 0.32 ethionamide
ethA 4327368 p.Glu36Lys missense_variant 0.25 ethionamide Uncertain significance
ethA 4327427 p.Gly16Asp missense_variant 0.32 ethionamide Uncertain significance
gid 4407591 c.612C>T synonymous_variant 0.2 streptomycin
gid 4407612 c.591T>C synonymous_variant 0.13 streptomycin
gid 4407615 c.588G>A synonymous_variant 0.23 streptomycin
gid 4407659 p.Gly182Ser missense_variant 0.22 streptomycin
gid 4407747 c.456G>A synonymous_variant 0.1 streptomycin
gid 4407785 p.Ala140Thr missense_variant 0.22 streptomycin
gid 4407855 c.348G>A synonymous_variant 0.1 streptomycin
gid 4407935 p.Leu90Phe missense_variant 0.2 streptomycin Uncertain significance
gid 4407942 c.261G>A synonymous_variant 0.21 streptomycin
gid 4407986 p.Gly73Arg missense_variant 0.1 streptomycin Uncertain significance
gid 4408041 c.162G>A synonymous_variant 0.1 streptomycin
gid 4408081 p.Val41Ala missense_variant 0.12 streptomycin Uncertain significance
gid 4408110 c.93G>A synonymous_variant 0.13 streptomycin
gid 4408124 p.Ala27Thr missense_variant 0.21 streptomycin