Table 2 The somatic mutations compared to the blood.

From: Preliminary identification of somatic mutations profile in ACL injury

Gene

Variant

The effect of mutations in exons

Chr.start

Chr.end

Frequency of mutations at the site of variation

AF/SIFT.score/CADD_phred

KATNIP

NM_015202.4: c.2426G > A(p.R809Q)

missense_variant

16:27752044

16:27752044

 

0.021621622/0.189/4.394

KDM4B

NM_015015.3: c.1991 C > A(p.A664E)

missense_variant

19:5133978

19:5133978

 

0.020512821/0.007/24.7

LAMB1

NM_002291.3: c.102 C > A(p.S34R)

missense_variant

7:107642114

7:107642114

 

0.022304833/0.002/25.4

ABL1

NM_005157.6: c.2029G > C(p.G677R)

missense_variant

9:133759706

9:133759706

 

0.020512821/0.001/23.9

ARSD

NM_001669.4: c.661G > A(p.G221S)

missense_variant

X:2,836,047

X:2,836,047

0.0059

0.102702703/0.163/11.63

ARSD

NM_001669.4: c.667T > A(p.F223I)

missense_variant

X:2,836,041

X:2,836,041

0.0052

0.097297297/1/0.004

CD5

NM_014207.4: c.932G > A(p.R311Q)

missense_variant

11:60889209

11:60889209

1.91E-05

0.026119403/0.004/25.6

CYBA

NM_000101.4: c.521_523del(p.V174del)

inframe_deletion

16:88709826

16:88709828

0.0009

0.025/./.

FLYWCH1

NM_032296.2: c.1120 C > A(p.R374S)

missense_variant

16:2983457

16:2983457

 

0.022222222/0.203/23.1

CACNB4

NM_000726.4: c.313G > A(p.G105S)

missense_variant

2:152737391

2:152737391

9.55E-06

0.030456853/0.019/34

FBXO2

NM_012168.6: c.132_133insCCC(p.A44_A45insP)

inframe_insertion

1:11710781

1:11710781

 

0.021978022/./.

HDLBP

NM_203346.5:c.652G > A(p.E218K)

missense_variant

2:242196020

2:242196020

 

0.02173913/0.086/25.8

RHPN2

NM_033103.5: c.1217G > A(p.R406Q)

missense_variant

19:33490500

19:33490500

1.89E-05

0.028735632/0.33/18.06

GGT5

NM_004121.3: c.201 C > T(p.P67=)

synonymous_variant

22:24629945

22:24629945

2.26E-05

0.020172911/./.

RHPN2

NM_033103.5: c.1217G > A(p.R406Q)

missense_variant

19:33490500

19:33490500

1.89E-05

0.022222222/0.33/18.06

ACSF3

NM_174917.5: c.823-6_823-5delinsCCGCCGCCGTGGGTCTCT-GCCTGCTCATCTTCCTACCGAGTGCTTCCTTTCCTTT

splice_acceptor_variant & intron_variant

16:89178494

16:89178495

 

0.081545064/./.

ADAM21

NM_003813.4:c.119 C > T(p.P40L)

missense_variant

14:70924335

14:70924335

0.0046

0.023584906/./20.3

GATA2

NM_032638.5:c.450 A > G(p.G150=)

synonymous_variant

3:128204991

3:128204991

2.48E-05

0.022556391/./.

LAMC3

NM_006059.4: c.559G > A(p.V187M)

missense_variant

9:133901857

9:133901857

0.0001

0.029761905/0.051/21.4

RPP25

NM_017793.3: c.529G > A(p.A177T)

missense_variant

15:75248396

15:75248396

 

0.022727273/0.007/22.9

ZNF492

NM_020855.3: c.118G > A(p.A40T)

missense_variant

19:22836805

19:22836805

0.0092

0.023489933/0.081/15.34

CDC34

NM_004359.2: c.661G > A(p.D221N)

missense_variant

19:541502

19:541502

3.90E-05

0.02020202/0.008/15.63

Gene

Variant

The effect of mutations in exons

Chr.start

Chr.end

Frequency of mutations at the site of variation

AF/SIFT.score/CADD_phred

KRT4

NM_002272.4: c.259_260insCCGGCGGCTTCGGAGCTGGTTTC-GGCACTGGTGGGTTTGGTG-(p.G86_G87insAGGFGAGFGTGGFG)

inframe_insertion

12:53207583

12:53207583

 

0.449648712/./.

THAP4

NM_015963.6: c.849 C > A(p.S283R)

missense_variant

2:242572723

2:242572723

 

0.02/0.002/12.58

  1. 24 different loci were detected: the mutation loci were scattered, and the position and significance of the mutations are shown in the table. Chr.start: multiple exon start sites; Chr.end: multiple exon termination sites; AF: allele frequency; SIFT: sorting intolerant from tolerant; CADD: combined annotation dependent depletion.
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