From: Molecular evidence for the bi-clonal origin of neuroendocrine tumor derived metastases
A) | |||||||
---|---|---|---|---|---|---|---|
p-TU | P-STS -P41 | H-STS -P42 | L-STS -P49 | ||||
Total number of reads | 272,728 | 270,044 | 256,619 | 268,969 | |||
Numb. of mapped reads | 262,773 (96.35%) | 259,781 (96.20%) | 247,300 (96.37%) | 258,908 (96.26%) | |||
NumUniqueInRegions (reads within target region | 184,206 (72.08%) | 200,711 (78.60%) | 192,918 (79.38%) | 160,272 (63.75%) | |||
Average coverage | ~29.3-fold | ~31.9-fold | ~30.7-FOLD | ~25.5-FOLD | |||
% target bases covered ≥ 5-fold | >89% | >86% | >81% | >82% | |||
B) | |||||||
p-TU | P-STS -P41 | H-STS -P42 | L-STS -P49 | ||||
HC Diffs (total) | 4489 | 3756 | 3541 | 4631 | |||
HC Diffs (known) | 3961 | 3372 | 3163 | 3907 | |||
HC DIffs (within cds) | 280 | 251 | 206 | 213 | |||
novel or pathogenic (in coding seq.) | 27 | 26 | 6 | 7 | |||
non-synonymous | 24 | 19 | 5 | 6 | |||
synonymous | 3 | 7 | 1 | 1 | |||
knowing (in coding seq.) | 253 | 225 | 200 | 206 | |||
non-synonymous | 97 | 80 | 77 | 77 | |||
synonymous | 156 | 145 | 123 | 129 | |||
C) | |||||||
GeneID | Status | Mut. type | Nucleotide | AA | Refseq ID | Chr. | Position |
BRCA2 | unknown | missense | c.C1783T | H595Y | NM_000059.3 | 13q | 31805398 |
ERCC5 | unknown | missense | c.T266C | V89A | NM_000123.2 | 13q | 102304109 |
KIT | unknown | missense | c.A1606C | M536L | NM_000222.1 | 4q | 55288206 |
MLL | unknown | missense | c.C11305T | H3769V | NM_005933.2 | 11q | 117895710 |
ROS1 | unknown | missense | c.G625A | D209N | NM_002944.2 | 6q | 117824925 |
SMAD4 | unknown | missense | c.G290A | R97H | NM_005359.5 | 18q | 46829094 |
SDHB | unknown | missense | cC98T | A33L | Nm_003000.2 | 1p | 17243945 |
HNF1A | unknown | frameshift | c.872_873insC | p.G292fs*25 | NM_000545.4 | 12q | 119916507 |
RB1 | known | missense | c.211_213insAG | p.A74fs*3 | NM_000321.2 | 13q | 47779500 |
TP53 | known | missense | c.C817T | R273C | NM_000546.4 | 17q | 7517846 |
TP53 | rs1042522 | missense | c.C215G | R72P | NM_000546.4 | 17q | 7520197 |
HNF1A | rs56348580 | synon. | cG864C | G288G | NM_000545.4 | 12q | 119916500 |
KIAA1549 | rs59985563 | missense | cA1090G | T364A | NM_001164665.1 | 7q | 138253822 |
KIAA1549 | rs61734132 | missense | cC1940G | S647C | NM_00164665.1 | 7q | 138252972 |