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Table 1 Missense variants from exome sequencing of WBC and two consecutive PA derived DNA samples

From: Case report: recurrent pituitary adenoma has increased load of somatic variants

 LocationRef /Alt alleleGeneCDS positionProtein positionAmino acidsSIFTPolyPhenLocus coverage/alternative variant depth
WBC1st tumour2nd tumour
Somatic variants of the both tumours5:140712358aG/APCDHGA12107703V/I0.180.02141/040/34 (85%)30/12 (40%)
11:107375677A/TALKBH81702568C/S0.43041/080/27 (34%)43/13 (30%)
11:111951148T/AC11orf579933D/E00.72122/076/4 (5.3%)70/17 (24%)
11:62301128C/TAHNAK761254G/E0.180.99994/064/29 (45%)38/13 (34%)
14:95669606aA/GCLMN2080694C/R0.03036/0151/51 (34%)260/75 (29%)
16:2855123G/TPRSS41105/073/11 (15%)58/14 (24%)
17:38189695T/GMED24631211I/L0.070.00326/062/2 (3.2%)63/14 (22%)
19:53384666aC/AZNF320713238S/I10.00555/09/1 (11%)27/10 (37%)
20:23731308G/TCST119666R/S00.98553/0252/103 (41%)241/125 (52%)
X:63444842C/GASB12689230C/S0.020.977112/0651/228 (35%)632/234 (37%)
Somatic variants of the second tumour2:11593766T/CE2F69733N/D00.132125/0150/0117/13 (11%)
2:61349274T/CKIAA18412134712F/L0.130.00125/07/012/6 (50%)
3:100058013G/CNIT29030E/D0.060.00522/034/038/6 (16%)
5:112178502T/CAPC72112404M/T0.54086/018/030/7 (23%)
5:118552606A/CDMXL179372646D/A00.23422/04/06/5 (83%)
5:176797955A/CRGS141177393T/P00.9621/015/042/10 (24%)
6:109480584A/CCEP57L1935312D/A0.880.0830/011/020/6 (30%)
6:109983834G/TAK9364122Q/K0.060.73837/01/069/19 (28%)
6:128326254C/TPTPRK2499833M/I0.020.02490/03/016/7 (44%)
8:17417949A/GSLC7A21411471R/G0.410133/013/033/8 (24%)
9:123751971G/AC530291010A/V0.210.71375/025/023/8 (35%)
10:120801963A/CEIF3A30691023D/E0.120.00575/021/043/15 (35%)
11:16812380C/TPLEKHA730171006G/D0.120.57557/08/032/6 (19%)
11:77911754G/AUSP351097366G/E0.020.21274/013/020/7 (35%)
12:113730866G/ATPCN12457819M/I0.170.05388/070/025/10 (40%)
16:31371749G/CITGAX826276A/P00.99915/07/012/7 (58%)
Variants with expansion4:85707175C/TWDFY340191340R/Q00.78753/1 (1.9%)37/14 (38%)23/10 (43%)
6:132171199A/GENPP1383128E/G0.380.00370/1 (1.4%)75/2 (2.7%)34/10 (29%)
  1. aCosmic database variant (5:140712358, PCDHGA1, 703 V/I, COSV65295567; 14:95669606, CLMN, 694C/R, COSV54187254; 19:53384666, ZNF320, 238S/I, COSV67089305)