ACTB.md
... ...
@@ -33,6 +33,21 @@
33 33
> [!NOTE]
34 34
> First described in DLBCL in 2012 by [Lohr JG](https://pubmed.ncbi.nlm.nih.gov/22343534)
35 35
36
+ ## ACTB Hotspots
37
+
38
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
39
+ | :---:| :---: | :--: | :---: |
40
+| chr7 | 5569176 | G>A | P38L |
41
+| chr7 | 5569024 | A>C | M44R |
42
+| chr7 | 5569018 | C>T | G46D |
43
+| chr7 | 5569006 | T>C | K50R |
44
+| chr7 | 5568978 | C>A | Q59H |
45
+| chr7 | 5568975 | G>C | S60R |
46
+| chr7 | 5568958 | G>A | T66I |
47
+| chr7 | 5568955 | A>G | L67P |
48
+| chr7 | 5568950 | A>T | Y69N |
49
+| chr7 | 5568923 | T>C | N78D |
50
+| chr7 | 5568920 | A>C | W79G |
36 51
37 52
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ACTB_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ACTB_protein_hg38.html)
38 53
ACTG1.md
... ...
@@ -31,4 +31,10 @@
31 31
|chr17 |79478289 |79479959|[intron](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr17%3A79478289%2D79479959)|NA |
32 32
33 33
> [!NOTE]
34
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289). First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ACTG1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ACTG1_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/ACTG1_NM_001614.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ACTG1.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ACTG1_hg38.html)
5
+
6
+![image](images/proteinpaint/ACTG1.svg)
ADAMTS1.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ADAMTS1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ADAMTS1_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/ADAMTS1_NM_006988.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ADAMTS1.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ADAMTS1_hg38.html)
5
+
6
+![image](images/proteinpaint/ADAMTS1.svg)
ALPK2.md
... ...
@@ -26,6 +26,12 @@
26 26
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
27 27
28 28
29
+ ## ALPK2 Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr18 | 56203836 | C>T | V1195M |
34
+
29 35
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ALPK2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ALPK2_protein_hg38.html)
30 36
31 37
![image](images/proteinpaint/ALPK2_NM_052947.svg)
ANKRD12.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANKRD12_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANKRD12_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/ANKRD12_NM_015208.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANKRD12.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANKRD12_hg38.html)
5
+
6
+![image](images/proteinpaint/ANKRD12.svg)
ARID1A.md
... ...
@@ -33,6 +33,20 @@
33 33
> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597). First described in DLBCL in 2013 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/23292937)
34 34
35 35
36
+ ## ARID1A Hotspots
37
+
38
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
39
+ | :---:| :---: | :--: | :---: |
40
+| chr1 | 27023114 | C>T | Q74* |
41
+| chr1 | 27023420 | C>T | Q176* |
42
+| chr1 | 27023423 | C>T | Q177* |
43
+| chr1 | 27023429 | C>T | P179S |
44
+| chr1 | 27023447 | C>T | Q185* |
45
+| chr1 | 27100207 | C>T | R1335* |
46
+| chr1 | 27100315 | T>C | F1343L |
47
+| chr1 | 27106354 | C>T | R1989* |
48
+| chr1 | 27106363 | T>C | S1992P |
49
+
36 50
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ARID1A_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ARID1A_protein_hg38.html)
37 51
38 52
![image](images/proteinpaint/ARID1A_NM_006015.svg)
ARID5B.md
... ...
@@ -26,6 +26,8 @@
26 26
> [!NOTE]
27 27
> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
28 28
29
+> [!WARNING]
30
+> Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1)
29 31
30 32
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ARID5B_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ARID5B_protein_hg38.html)
31 33
ATP6V1A.md
... ...
@@ -21,4 +21,16 @@
21 21
22 22
23 23
> [!NOTE]
24
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+ ## ATP6V1A Hotspots
1
+
2
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
3
+ | :---:| :---: | :--: | :---: |
4
+| chr3 | 113528218 | G>A | D600N |
5
+
6
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ATP6V1A_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ATP6V1A_protein_hg38.html)
7
+
8
+![image](images/proteinpaint/ATP6V1A_NM_001690.svg)
9
+
10
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ATP6V1A.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ATP6V1A_hg38.html)
11
+
12
+![image](images/proteinpaint/ATP6V1A.svg)
ATP6V1B2.md
... ...
@@ -22,6 +22,12 @@
22 22
23 23
24 24
25
+ ## ATP6V1B2 Hotspots
26
+
27
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
28
+ | :---:| :---: | :--: | :---: |
29
+| chr8 | 20074768 | G>A | R400Q |
30
+
25 31
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ATP6V1B2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ATP6V1B2_protein_hg38.html)
26 32
27 33
![image](images/proteinpaint/ATP6V1B2_NM_001693.svg)
B2M.md
... ...
@@ -31,6 +31,32 @@
31 31
32 32
33 33
34
+ ## B2M Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr15 | 45003745 | A>G | M1? |
39
+| chr15 | 45003745 | A>T | M1? |
40
+| chr15 | 45003745 | AGATGTCT>- | NA |
41
+| chr15 | 45003746 | T>A | M1? |
42
+| chr15 | 45003746 | T>C | M1? |
43
+| chr15 | 45003746 | T>G | M1? |
44
+| chr15 | 45003747 | G>A | M1? |
45
+| chr15 | 45003747 | G>C | M1? |
46
+| chr15 | 45003758 | T>A | V5E |
47
+| chr15 | 45003761 | C>A | A6D |
48
+| chr15 | 45003764 | T>C | L7S |
49
+| chr15 | 45003764 | T>G | L7* |
50
+| chr15 | 45003766 | G>C | A8P |
51
+| chr15 | 45003767 | C>A | A8D |
52
+| chr15 | 45003770 | T>A | V9E |
53
+| chr15 | 45003770 | T>G | V9G |
54
+| chr15 | 45003779 | T>A | L12Q |
55
+| chr15 | 45003779 | T>C | L12P |
56
+| chr15 | 45003779 | T>G | L12R |
57
+| chr15 | 45003781 | C>T | L13F |
58
+| chr15 | 45003782 | T>C | L13P |
59
+
34 60
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/B2M_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/B2M_protein_hg38.html)
35 61
36 62
![image](images/proteinpaint/B2M_NM_004048.svg)
BCL10.md
... ...
@@ -31,6 +31,14 @@
31 31
32 32
33 33
34
+ ## BCL10 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr1 | 85736474 | C>T | R58Q |
39
+| chr1 | 85733390 | G>A | Q208* |
40
+| chr1 | 85733386 | A>C | L209* |
41
+
34 42
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BCL10_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BCL10_protein_hg38.html)
35 43
36 44
![image](images/proteinpaint/BCL10_NM_003921.svg)
BCL11A.md
... ...
@@ -34,6 +34,18 @@
34 34
35 35
36 36
37
+ ## BCL11A Hotspots
38
+
39
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
40
+ | :---:| :---: | :--: | :---: |
41
+| chr2 | 60780391 | C>G | K5N |
42
+| chr2 | 60780391 | C>A | K5N |
43
+| chr2 | 60780390 | G>A | Q6* |
44
+| chr2 | 60780380 | GG>AA | P9F |
45
+| chr2 | 60780371 | A>T | L12* |
46
+| chr2 | 60780368 | C>T | S13N |
47
+| chr2 | 60780368 | C>G | S13T |
48
+
37 49
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BCL11A_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BCL11A_protein_hg38.html)
38 50
39 51
![image](images/proteinpaint/BCL11A_NM_022893.svg)
BCL2.md
... ...
@@ -37,6 +37,21 @@
37 37
38 38
39 39
40
+ ## BCL2 Hotspots
41
+
42
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
43
+ | :---:| :---: | :--: | :---: |
44
+| chr18 | 60985854 | T>C | M16V |
45
+| chr18 | 60985854 | T>A | M16L |
46
+| chr18 | 60985853 | A>T | M16K |
47
+| chr18 | 60985852 | C>T | M16I |
48
+| chr18 | 60985849 | C>G | K17N |
49
+| chr18 | 60985842 | G>A | H20Y |
50
+| chr18 | 60985840 | A>C | H20Q |
51
+| chr18 | 60985838 | T>G | Y21S |
52
+| chr18 | 60985835 | T>C | K22R |
53
+| chr18 | 60985834 | CT>TC | K22R |
54
+
40 55
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BCL2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BCL2_protein_hg38.html)
41 56
42 57
![image](images/proteinpaint/BCL2_NM_000633.svg)
BCL6.md
... ...
@@ -43,6 +43,19 @@
43 43
> First described in BL in 2019 by [Grande BM](https://pubmed.ncbi.nlm.nih.gov/30617194). First described in DLBCL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119). First described in FL in 2023 by [Dreval K](https://pubmed.ncbi.nlm.nih.gov/37084389)
44 44
45 45
46
+ ## BCL6 Hotspots
47
+
48
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
49
+ | :---:| :---: | :--: | :---: |
50
+| chr3 | 187443373 | G>A | R585W |
51
+| chr3 | 187443370 | G>A | P586S |
52
+| chr3 | 187443369 | G>A | P586L |
53
+| chr3 | 187443367 | C>T | A587T |
54
+| chr3 | 187443366 | G>T | A587D |
55
+| chr3 | 187443366 | G>C | A587G |
56
+| chr3 | 187443345 | C>T | R594Q |
57
+| chr3 | 187443342 | A>T | I595N |
58
+
46 59
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BCL6_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BCL6_protein_hg38.html)
47 60
48 61
![image](images/proteinpaint/BCL6_NM_001706.svg)
BCOR.md
... ...
@@ -25,6 +25,12 @@
25 25
26 26
27 27
28
+ ## BCOR Hotspots
29
+
30
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
31
+ | :---:| :---: | :--: | :---: |
32
+| chrX | 39921444 | T>C | N1459S |
33
+
28 34
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BCOR_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BCOR_protein_hg38.html)
29 35
30 36
![image](images/proteinpaint/BCOR_NM_017745.svg)
BCR.md
... ...
@@ -36,6 +36,18 @@
36 36
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
37 37
38 38
39
+ ## BCR Hotspots
40
+
41
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
42
+ | :---:| :---: | :--: | :---: |
43
+| chr22 | 23523350 | A>G | K68R |
44
+| chr22 | 23523351 | G>T | K68N |
45
+| chr22 | 23523353 | G>A | S69N |
46
+| chr22 | 23523353 | G>C | S69T |
47
+| chr22 | 23523356 | A>T | Y70F |
48
+| chr22 | 23523359 | A>C | D71A |
49
+| chr22 | 23523374 | G>A | G76D |
50
+
39 51
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BCR_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BCR_protein_hg38.html)
40 52
41 53
![image](images/proteinpaint/BCR_NM_004327.svg)
BIRC6.md
... ...
@@ -31,6 +31,12 @@
31 31
32 32
33 33
34
+ ## BIRC6 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr2 | 32740138 | T>A | C3550* |
39
+
34 40
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BIRC6_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BIRC6_protein_hg38.html)
35 41
36 42
![image](images/proteinpaint/BIRC6_NM_016252.svg)
BMP7.md
... ...
@@ -26,6 +26,27 @@
26 26
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
27 27
28 28
29
+ ## BMP7 Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr20 | 55841157 | C>T | A8T |
34
+| chr20 | 55841157 | C>G | A8P |
35
+| chr20 | 55841156 | G>C | A8G |
36
+| chr20 | 55841155 | AG>TA | A8V |
37
+| chr20 | 55840966 | G>T | H71Q |
38
+| chr20 | 55840965 | G>C | L72V |
39
+| chr20 | 55840962 | G>C | Q73E |
40
+| chr20 | 55840958 | C>T | G74D |
41
+| chr20 | 55840954 | C>A | K75N |
42
+| chr20 | 55840953 | G>T | H76N |
43
+| chr20 | 55840953 | G>C | H76D |
44
+| chr20 | 55840953 | G>A | H76Y |
45
+| chr20 | 55840944 | C>G | A79P |
46
+| chr20 | 55840935 | A>G | F82L |
47
+| chr20 | 55840918 | G>C | Y87* |
48
+| chr20 | 55840913 | G>T | A89D |
49
+
29 50
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BMP7_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BMP7_protein_hg38.html)
30 51
31 52
![image](images/proteinpaint/BMP7_NM_001719.svg)
BRAF.md
... ...
@@ -31,6 +31,17 @@
31 31
> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597). First described in DLBCL in 2012 by [Lohr JG](https://pubmed.ncbi.nlm.nih.gov/22343534)
32 32
33 33
34
+ ## BRAF Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr7 | 140453155 | C>T | D594N |
39
+| chr7 | 140453154 | T>G | D594A |
40
+| chr7 | 140453154 | T>C | D594G |
41
+| chr7 | 140453145 | A>T | L597Q |
42
+| chr7 | 140453136 | A>T | V600E |
43
+| chr7 | 140453132 | T>G | K601N |
44
+
34 45
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BRAF_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BRAF_protein_hg38.html)
35 46
36 47
![image](images/proteinpaint/BRAF_NM_004333.svg)
BRINP3.md
... ...
@@ -26,6 +26,9 @@
26 26
> [!NOTE]
27 27
> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
28 28
29
+> [!WARNING]
30
+> Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1)
31
+
29 32
30 33
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BRINP3_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BRINP3_protein_hg38.html)
31 34
BTG1.md
... ...
@@ -38,6 +38,30 @@
38 38
> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096). First described in DLBCL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119)
39 39
40 40
41
+ ## BTG1 Hotspots
42
+
43
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
44
+ | :---:| :---: | :--: | :---: |
45
+| chr12 | 92539221 | G>A | L31F |
46
+| chr12 | 92539209 | G>A | R35* |
47
+| chr12 | 92539204 | C>G | Q36H |
48
+| chr12 | 92539203 | G>T | L37M |
49
+| chr12 | 92539203 | G>C | L37V |
50
+| chr12 | 92539198 | C>A | Q38H |
51
+| chr12 | 92539195 | GG>CA | T39M |
52
+| chr12 | 92539190 | C>T | S41N |
53
+| chr12 | 92539189 | G>C | S41R |
54
+| chr12 | 92539184 | C>T | S43N |
55
+| chr12 | 92539179 | G>A | Q45* |
56
+| chr12 | 92539174 | C>G | E46D |
57
+| chr12 | 92539173 | G>C | L47V |
58
+| chr12 | 92539167 | C>T | A49T |
59
+| chr12 | 92539164 | C>T | E50K |
60
+| chr12 | 92539164 | C>G | E50Q |
61
+| chr12 | 92538218 | A>C | Y52D |
62
+| chr12 | 92538217 | T>C | Y52C |
63
+| chr12 | 92538215 | T>C | K53E |
64
+
41 65
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BTG1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/BTG1_protein_hg38.html)
42 66
43 67
![image](images/proteinpaint/BTG1_NM_001731.svg)
CAD.md
... ...
@@ -26,6 +26,12 @@
26 26
> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
27 27
28 28
29
+ ## CAD Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr2 | 27455966 | T>A | Y983* |
34
+
29 35
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CAD_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CAD_protein_hg38.html)
30 36
31 37
![image](images/proteinpaint/CAD_NM_004341.svg)
CADPS2.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CADPS2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CADPS2_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/CADPS2_NM_017954.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CADPS2.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CADPS2_hg38.html)
5
+
6
+![image](images/proteinpaint/CADPS2.svg)
CARD11.md
... ...
@@ -31,6 +31,26 @@
31 31
32 32
33 33
34
+ ## CARD11 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr7 | 2979522 | T>C | E242G |
39
+| chr7 | 2979521 | T>A | E242D |
40
+| chr7 | 2979513 | A>G | L245P |
41
+| chr7 | 2979508 | T>C | R247G |
42
+| chr7 | 2979501 | T>G | Q249P |
43
+| chr7 | 2979499 | A>G | S250P |
44
+| chr7 | 2979495 | A>G | L251P |
45
+| chr7 | 2979493 | T>A | K252* |
46
+| chr7 | 2979486 | T>C | K254R |
47
+| chr7 | 2979481 | C>T | D256N |
48
+| chr7 | 2977614 | T>C | D357G |
49
+| chr7 | 2977614 | T>A | D357V |
50
+| chr7 | 2977604 | C>A | M360I |
51
+| chr7 | 2977602 | T>G | Y361S |
52
+| chr7 | 2977602 | T>C | Y361C |
53
+
34 54
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CARD11_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CARD11_protein_hg38.html)
35 55
36 56
![image](images/proteinpaint/CARD11_NM_032415.svg)
CCDC42BPB.md
... ...
@@ -18,4 +18,8 @@
18 18
19 19
20 20
> [!NOTE]
21
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CCDC42BPB_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CCDC42BPB_protein_hg38.html)
1
+
2
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CCDC42BPB.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CCDC42BPB_hg38.html)
3
+
4
+![image](images/proteinpaint/CCDC42BPB.svg)
CCND3.md
... ...
@@ -33,6 +33,29 @@
33 33
> First described in BL in 2012 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/22885699). First described in DLBCL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119). First described in FL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119)
34 34
35 35
36
+ ## CCND3 Hotspots
37
+
38
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
39
+ | :---:| :---: | :--: | :---: |
40
+| chr6 | 41903736 | C>G | S274T |
41
+| chr6 | 41903731 | G>A | Q276* |
42
+| chr6 | 41903719 | G>A | Q280* |
43
+| chr6 | 41903710 | T>G | T283P |
44
+| chr6 | 41903710 | T>C | T283A |
45
+| chr6 | 41903710 | T>A | T283S |
46
+| chr6 | 41903709 | G>A | T283I |
47
+| chr6 | 41903707 | G>A | P284S |
48
+| chr6 | 41903706 | G>C | P284R |
49
+| chr6 | 41903706 | G>A | P284L |
50
+| chr6 | 41903694 | G>C | T288R |
51
+| chr6 | 41903692 | C>G | A289P |
52
+| chr6 | 41903691 | G>C | A289G |
53
+| chr6 | 41903688 | A>T | I290K |
54
+| chr6 | 41903688 | A>G | I290T |
55
+| chr6 | 41903688 | A>C | I290R |
56
+| chr6 | 41903682 | A>T | L292Q |
57
+| chr6 | 41903682 | A>C | L292R |
58
+
36 59
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CCND3_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CCND3_protein_hg38.html)
37 60
38 61
![image](images/proteinpaint/CCND3_NM_001760.svg)
CD70.md
... ...
@@ -31,6 +31,16 @@
31 31
32 32
33 33
34
+ ## CD70 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr19 | 6590145 | C>T | W55* |
39
+| chr19 | 6590138 | C>T | A58T |
40
+| chr19 | 6590138 | C>G | A58P |
41
+| chr19 | 6590137 | G>A | A58V |
42
+| chr19 | 6590116 | G>A | T65I |
43
+
34 44
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CD70_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CD70_protein_hg38.html)
35 45
36 46
![image](images/proteinpaint/CD70_NM_001252.svg)
CD79A.md
... ...
@@ -26,6 +26,13 @@
26 26
> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096)
27 27
28 28
29
+ ## CD79A Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr19 | 42384963 | T>A | Y199* |
34
+| chr19 | 42384963 | T>G | Y199* |
35
+
29 36
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CD79A_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CD79A_protein_hg38.html)
30 37
31 38
![image](images/proteinpaint/CD79A_NM_001783.svg)
CD79B.md
... ...
@@ -31,6 +31,13 @@
31 31
32 32
33 33
34
+ ## CD79B Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr17 | 62007140 | A>G | L181P |
39
+| chr17 | 62006680 | A>G | L200P |
40
+
34 41
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CD79B_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CD79B_protein_hg38.html)
35 42
36 43
![image](images/proteinpaint/CD79B_NM_000626.svg)
CDKN2A.md
... ...
@@ -26,6 +26,12 @@
26 26
27 27
28 28
29
+ ## CDKN2A Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr9 | 21971120 | G>A | R80* |
34
+
29 35
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CDKN2A_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CDKN2A_protein_hg38.html)
30 36
31 37
![image](images/proteinpaint/CDKN2A_NM_000077.svg)
CNOT2.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CNOT2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CNOT2_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/CNOT2_NM_014515.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CNOT2.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CNOT2_hg38.html)
5
+
6
+![image](images/proteinpaint/CNOT2.svg)
CPNE8.md
... ...
@@ -21,4 +21,10 @@
21 21
22 22
23 23
> [!NOTE]
24
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CPNE8_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CPNE8_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/CPNE8_NM_153634.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CPNE8.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CPNE8_hg38.html)
5
+
6
+![image](images/proteinpaint/CPNE8.svg)
CREBBP.md
... ...
@@ -33,6 +33,36 @@
33 33
> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597). First described in FL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119)
34 34
35 35
36
+ ## CREBBP Hotspots
37
+
38
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
39
+ | :---:| :---: | :--: | :---: |
40
+| chr16 | 3788618 | G>A | R1446C |
41
+| chr16 | 3788617 | C>T | R1446H |
42
+| chr16 | 3788617 | C>A | R1446L |
43
+| chr16 | 3788606 | A>T | Y1450N |
44
+| chr16 | 3788606 | A>C | Y1450D |
45
+| chr16 | 3788605 | T>G | Y1450S |
46
+| chr16 | 3788605 | T>C | Y1450C |
47
+| chr16 | 3788596 | A>G | I1453T |
48
+| chr16 | 3788594 | G>T | L1454I |
49
+| chr16 | 3788593 | A>C | L1454R |
50
+| chr16 | 3786715 | A>T | L1499Q |
51
+| chr16 | 3786715 | A>G | L1499P |
52
+| chr16 | 3786715 | A>C | L1499R |
53
+| chr16 | 3786710 | C>A | E1501* |
54
+| chr16 | 3786707 | A>T | W1502R |
55
+| chr16 | 3786707 | A>G | W1502R |
56
+| chr16 | 3786705 | C>T | W1502* |
57
+| chr16 | 3786705 | C>G | W1502C |
58
+| chr16 | 3786705 | C>A | W1502C |
59
+| chr16 | 3786704 | A>T | Y1503N |
60
+| chr16 | 3786704 | A>G | Y1503H |
61
+| chr16 | 3786704 | A>C | Y1503D |
62
+| chr16 | 3786703 | T>G | Y1503S |
63
+| chr16 | 3786703 | T>A | Y1503F |
64
+| chr16 | 3786691 | A>G | L1507P |
65
+
36 66
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CREBBP_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CREBBP_protein_hg38.html)
37 67
38 68
![image](images/proteinpaint/CREBBP_NM_004380.svg)
CTSS.md
... ...
@@ -22,6 +22,13 @@
22 22
23 23
24 24
25
+ ## CTSS Hotspots
26
+
27
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
28
+ | :---:| :---: | :--: | :---: |
29
+| chr1 | 150727482 | A>C | Y132D |
30
+| chr1 | 150727482 | A>T | Y132N |
31
+
25 32
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CTSS_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/CTSS_protein_hg38.html)
26 33
27 34
![image](images/proteinpaint/CTSS_NM_004079.svg)
DAZAP1.md
... ...
@@ -25,6 +25,16 @@
25 25
26 26
27 27
28
+ ## DAZAP1 Hotspots
29
+
30
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
31
+ | :---:| :---: | :--: | :---: |
32
+| chr19 | 1434897 | C>T | P404S |
33
+| chr19 | 1434900 | T>A | Y405N |
34
+| chr19 | 1434903 | C>G | R406G |
35
+| chr19 | 1434903 | C>T | R406* |
36
+| chr19 | 1434906 | C>T | R407C |
37
+
28 38
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DAZAP1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DAZAP1_protein_hg38.html)
29 39
30 40
![image](images/proteinpaint/DAZAP1_ENST00000233078.svg)
DHX15.md
... ...
@@ -21,4 +21,10 @@
21 21
22 22
23 23
> [!NOTE]
24
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DHX15_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DHX15_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/DHX15_NM_001358.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DHX15.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DHX15_hg38.html)
5
+
6
+![image](images/proteinpaint/DHX15.svg)
DHX16.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DHX16_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DHX16_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/DHX16_NM_003587.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DHX16.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DHX16_hg38.html)
5
+
6
+![image](images/proteinpaint/DHX16.svg)
DICER1.md
... ...
@@ -26,6 +26,9 @@
26 26
> [!NOTE]
27 27
> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
28 28
29
+> [!WARNING]
30
+> Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1)
31
+
29 32
30 33
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DICER1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DICER1_protein_hg38.html)
31 34
DNM2.md
... ...
@@ -24,4 +24,16 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+ ## DNM2 Hotspots
1
+
2
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
3
+ | :---:| :---: | :--: | :---: |
4
+| chr19 | 10934492 | G>A | E604K |
5
+
6
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DNM2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DNM2_protein_hg38.html)
7
+
8
+![image](images/proteinpaint/DNM2_NM_001005360.svg)
9
+
10
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DNM2.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DNM2_hg38.html)
11
+
12
+![image](images/proteinpaint/DNM2.svg)
DTX1.md
... ...
@@ -38,6 +38,55 @@
38 38
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468). First described in DLBCL in 2018 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/29641966)
39 39
40 40
41
+ ## DTX1 Hotspots
42
+
43
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
44
+ | :---:| :---: | :--: | :---: |
45
+| chr12 | 113496076 | G>A | V27M |
46
+| chr12 | 113496081 | G>A | W28* |
47
+| chr12 | 113496082 | G>A | E29K |
48
+| chr12 | 113496083 | A>G | E29G |
49
+| chr12 | 113496085 | T>G | W30G |
50
+| chr12 | 113496087 | G>A | W30* |
51
+| chr12 | 113496089 | T>A | L31Q |
52
+| chr12 | 113496089 | T>C | L31P |
53
+| chr12 | 113496096 | G>C | E33D |
54
+| chr12 | 113496097 | C>T | H34Y |
55
+| chr12 | 113496112 | C>T | P39S |
56
+| chr12 | 113496115 | T>C | Y40H |
57
+| chr12 | 113496116 | A>C | Y40S |
58
+| chr12 | 113496116 | A>G | Y40C |
59
+| chr12 | 113496117 | C>G | Y40* |
60
+| chr12 | 113496121 | G>C | A42P |
61
+| chr12 | 113496130 | T>A | C45S |
62
+| chr12 | 113496132 | C>A | C45* |
63
+| chr12 | 113496133 | C>T | H46Y |
64
+| chr12 | 113496135 | C>A | H46Q |
65
+| chr12 | 113496139 | A>T | I48F |
66
+| chr12 | 113496140 | T>A | I48N |
67
+| chr12 | 113496141 | T>G | I48M |
68
+| chr12 | 113496148 | G>A | V51M |
69
+| chr12 | 113496155 | A>T | K53M |
70
+| chr12 | 113496156 | G>C | K53N |
71
+| chr12 | 113496159 | G>C | E54D |
72
+| chr12 | 113496162 | CG>AA | DA55ET |
73
+| chr12 | 113496170 | G>A | G58D |
74
+| chr12 | 113496173 | C>A | S59Y |
75
+| chr12 | 113496173 | C>T | S59F |
76
+| chr12 | 113496175 | G>A | V60M |
77
+| chr12 | 113496191 | T>C | V65A |
78
+| chr12 | 113496191 | T>G | V65G |
79
+| chr12 | 113496196 | G>A | A67T |
80
+| chr12 | 113496197 | C>T | A67V |
81
+| chr12 | 113496201 | G>C | Q68H |
82
+| chr12 | 113496202 | C>T | L69F |
83
+| chr12 | 113496205 | G>C | V70L |
84
+| chr12 | 113496208 | C>G | P71A |
85
+| chr12 | 113496208 | C>T | P71S |
86
+| chr12 | 113496210 | CT>TC | Y72H |
87
+| chr12 | 113496212 | A>G | Y72C |
88
+| chr12 | 113496213 | C>A | Y72* |
89
+
41 90
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DTX1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DTX1_protein_hg38.html)
42 91
43 92
![image](images/proteinpaint/DTX1_NM_004416.svg)
DUSP2.md
... ...
@@ -34,6 +34,21 @@
34 34
> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
35 35
36 36
37
+ ## DUSP2 Hotspots
38
+
39
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
40
+ | :---:| :---: | :--: | :---: |
41
+| chr2 | 96810877 | C>G | D73H |
42
+| chr2 | 96810865 | G>A | R77W |
43
+| chr2 | 96810842 | C>G | E84D |
44
+| chr2 | 96810841 | G>C | L85V |
45
+| chr2 | 96810730 | G>A | P122S |
46
+| chr2 | 96810717 | T>C | Y126C |
47
+| chr2 | 96810706 | C>T | G130R |
48
+| chr2 | 96810597 | C>T | C138Y |
49
+| chr2 | 96810582 | C>T | C143Y |
50
+| chr2 | 96810574 | C>T | A146T |
51
+
37 52
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DUSP2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/DUSP2_protein_hg38.html)
38 53
39 54
![image](images/proteinpaint/DUSP2_NM_004418.svg)
EBF1.md
... ...
@@ -36,6 +36,22 @@
36 36
37 37
38 38
39
+ ## EBF1 Hotspots
40
+
41
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
42
+ | :---:| :---: | :--: | :---: |
43
+| chr5 | 158526467 | C>T | S7N |
44
+| chr5 | 158526456 | T>C | S11G |
45
+| chr5 | 158526413 | T>C | N25S |
46
+| chr5 | 158511720 | T>C | N147D |
47
+| chr5 | 158511714 | C>T | E149K |
48
+| chr5 | 158511705 | G>C | R152G |
49
+| chr5 | 158511698 | A>C | L154W |
50
+| chr5 | 158511677 | C>A | C161F |
51
+| chr5 | 158500470 | C>T | R163H |
52
+| chr5 | 158500468 | A>G | C164R |
53
+| chr5 | 158500467 | C>G | C164S |
54
+
39 55
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/EBF1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/EBF1_protein_hg38.html)
40 56
41 57
![image](images/proteinpaint/EBF1_NM_024007.svg)
EEF1A1.md
... ...
@@ -29,6 +29,13 @@
29 29
> First described in DLBCL in 2021 by [Mosquera Orgueira A](https://pubmed.ncbi.nlm.nih.gov/33945543). First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
30 30
31 31
32
+ ## EEF1A1 Hotspots
33
+
34
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
35
+ | :---:| :---: | :--: | :---: |
36
+| chr6 | 74229094 | T>A | D97V |
37
+| chr6 | 74229095 | C>T | D97N |
38
+
32 39
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/EEF1A1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/EEF1A1_protein_hg38.html)
33 40
34 41
![image](images/proteinpaint/EEF1A1_NM_001402.svg)
EP300.md
... ...
@@ -31,6 +31,17 @@
31 31
32 32
33 33
34
+ ## EP300 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr22 | 41566478 | C>T | P1452L |
39
+| chr22 | 41566522 | T>A | Y1467N |
40
+| chr22 | 41566522 | T>C | Y1467H |
41
+| chr22 | 41566522 | T>G | Y1467D |
42
+| chr22 | 41566523 | A>G | Y1467C |
43
+| chr22 | 41566523 | A>T | Y1467F |
44
+
34 45
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/EP300_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/EP300_protein_hg38.html)
35 46
36 47
![image](images/proteinpaint/EP300_NM_001429.svg)
EPPK1.md
... ...
@@ -26,6 +26,12 @@
26 26
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
27 27
28 28
29
+ ## EPPK1 Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr8 | 144946005 | G>A | R473W |
34
+
29 35
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/EPPK1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/EPPK1_protein_hg38.html)
30 36
31 37
![image](images/proteinpaint/EPPK1_NM_031308.svg)
ETS1.md
... ...
@@ -37,6 +37,30 @@
37 37
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468). First described in DLBCL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119)
38 38
39 39
40
+ ## ETS1 Hotspots
41
+
42
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
43
+ | :---:| :---: | :--: | :---: |
44
+| chr11 | 128391889 | T>A | M1? |
45
+| chr11 | 128391888 | A>C | M1? |
46
+| chr11 | 128391871 | G>A | L7F |
47
+| chr11 | 128391867 | T>C | K8R |
48
+| chr11 | 128391865 | GC>CT | P9A |
49
+| chr11 | 128391865 | G>C | P9A |
50
+| chr11 | 128391865 | G>A | P9S |
51
+| chr11 | 128391861 | G>A | T10I |
52
+| chr11 | 128391859 | G>C | L11V |
53
+| chr11 | 128391855 | G>C | T12S |
54
+| chr11 | 128391855 | G>A | T12I |
55
+| chr11 | 128391853 | T>C | I13V |
56
+| chr11 | 128391853 | T>A | I13F |
57
+| chr11 | 128391848 | G>C | I14M |
58
+| chr11 | 128391846 | T>C | K15R |
59
+| chr11 | 128391841 | C>G | E17Q |
60
+| chr11 | 128391841 | C>A | E17* |
61
+| chr11 | 128391824 | C>G | E22D |
62
+| chr11 | 128391823 | G>A | L23F |
63
+
40 64
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ETS1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ETS1_protein_hg38.html)
41 65
42 66
![image](images/proteinpaint/ETS1_NM_001143820.svg)
ETV6.md
... ...
@@ -30,6 +30,14 @@
30 30
31 31
32 32
33
+ ## ETV6 Hotspots
34
+
35
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
36
+ | :---:| :---: | :--: | :---: |
37
+| chr12 | 11803078 | C>T | A6V |
38
+| chr12 | 11803087 | G>A | S9N |
39
+| chr12 | 11803094 | G>A | K11= |
40
+
33 41
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ETV6_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ETV6_protein_hg38.html)
34 42
35 43
![image](images/proteinpaint/ETV6_NM_001987.svg)
FBXW7.md
... ...
@@ -25,6 +25,12 @@
25 25
26 26
27 27
28
+ ## FBXW7 Hotspots
29
+
30
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
31
+ | :---:| :---: | :--: | :---: |
32
+| chr4 | 153250907 | T>G | T385P |
33
+
28 34
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/FBXW7_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/FBXW7_protein_hg38.html)
29 35
30 36
![image](images/proteinpaint/FBXW7_NM_033632.svg)
FOXO1.md
... ...
@@ -33,6 +33,32 @@
33 33
> First described in BL in 2012 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/22885699). First described in DLBCL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119). First described in FL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119)
34 34
35 35
36
+ ## FOXO1 Hotspots
37
+
38
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
39
+ | :---:| :---: | :--: | :---: |
40
+| chr13 | 41240294 | C>T | R19Q |
41
+| chr13 | 41240294 | C>G | R19P |
42
+| chr13 | 41240294 | C>A | R19L |
43
+| chr13 | 41240289 | G>C | R21G |
44
+| chr13 | 41240289 | G>A | R21C |
45
+| chr13 | 41240288 | C>T | R21H |
46
+| chr13 | 41240288 | C>G | R21P |
47
+| chr13 | 41240288 | C>A | R21L |
48
+| chr13 | 41240286 | AG>GC | S22P |
49
+| chr13 | 41240286 | AG>GA | S22P |
50
+| chr13 | 41240286 | A>G | S22P |
51
+| chr13 | 41240285 | G>C | S22W |
52
+| chr13 | 41240281 | G>T | C23* |
53
+| chr13 | 41240280 | T>C | T24A |
54
+| chr13 | 41240279 | G>A | T24I |
55
+| chr13 | 41240277 | A>G | W25R |
56
+| chr13 | 41240275 | C>T | W25* |
57
+| chr13 | 41240274 | G>C | P26A |
58
+| chr13 | 41240274 | G>A | P26S |
59
+| chr13 | 41240273 | G>A | P26L |
60
+| chr13 | 41240271 | G>C | L27V |
61
+
36 62
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/FOXO1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/FOXO1_protein_hg38.html)
37 63
38 64
![image](images/proteinpaint/FOXO1_NM_002015.svg)
FUBP1.md
... ...
@@ -27,6 +27,12 @@
27 27
> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
28 28
29 29
30
+ ## FUBP1 Hotspots
31
+
32
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
33
+ | :---:| :---: | :--: | :---: |
34
+| chr1 | 78444687 | A>C | M1? |
35
+
30 36
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/FUBP1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/FUBP1_protein_hg38.html)
31 37
32 38
![image](images/proteinpaint/FUBP1_NM_003902.svg)
FZR1.md
... ...
@@ -21,4 +21,10 @@
21 21
22 22
23 23
> [!NOTE]
24
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/FZR1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/FZR1_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/FZR1_NM_001136198.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/FZR1.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/FZR1_hg38.html)
5
+
6
+![image](images/proteinpaint/FZR1.svg)
GAK.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/GAK_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/GAK_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/GAK_NM_005255.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/GAK.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/GAK_hg38.html)
5
+
6
+![image](images/proteinpaint/GAK.svg)
GNA13.md
... ...
@@ -33,6 +33,16 @@
33 33
> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597). First described in DLBCL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119). First described in FL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119)
34 34
35 35
36
+ ## GNA13 Hotspots
37
+
38
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
39
+ | :---:| :---: | :--: | :---: |
40
+| chr17 | 63052633 | G>A | Q27* |
41
+| chr17 | 63052631 | C>G | Q27H |
42
+| chr17 | 63052630 | G>A | Q28* |
43
+| chr17 | 63052613 | C>G | E33D |
44
+| chr17 | 63052609 | C>G | D35H |
45
+
36 46
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/GNA13_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/GNA13_protein_hg38.html)
37 47
38 48
![image](images/proteinpaint/GNA13_NM_006572.svg)
GNAI2.md
... ...
@@ -33,6 +33,22 @@
33 33
> First described in BL in 2019 by [Grande BM](https://pubmed.ncbi.nlm.nih.gov/30617194)
34 34
35 35
36
+ ## GNAI2 Hotspots
37
+
38
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
39
+ | :---:| :---: | :--: | :---: |
40
+| chr3 | 50289532 | G>A | G40D |
41
+| chr3 | 50289546 | G>T | G45W |
42
+| chr3 | 50289547 | G>A | G45E |
43
+| chr3 | 50289553 | G>A | S47N |
44
+| chr3 | 50289554 | C>G | S47R |
45
+| chr3 | 50289555 | A>C | T48P |
46
+| chr3 | 50289568 | A>G | Q52R |
47
+| chr3 | 50293686 | T>G | L176R |
48
+| chr3 | 50293695 | G>A | R179H |
49
+| chr3 | 50293698 | T>A | V180E |
50
+| chr3 | 50293703 | A>G | T182A |
51
+
36 52
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/GNAI2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/GNAI2_protein_hg38.html)
37 53
38 54
![image](images/proteinpaint/GNAI2_NM_002070.svg)
GSG2.md
... ...
@@ -29,6 +29,8 @@
29 29
30 30
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/GSG2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/GSG2_protein_hg38.html)
31 31
32
+![image](images/proteinpaint/GSG2_NM_031965.svg)
33
+
32 34
View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/GSG2.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/GSG2_hg38.html)
33 35
34 36
![image](images/proteinpaint/GSG2.svg)
HIST1H1E.md
... ...
@@ -33,6 +33,29 @@
33 33
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
34 34
35 35
36
+ ## HIST1H1E Hotspots
37
+
38
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
39
+ | :---:| :---: | :--: | :---: |
40
+| chr6 | 26157090 | G>T | A158S |
41
+| chr6 | 26157096 | A>C | K160Q |
42
+| chr6 | 26157096 | A>G | K160E |
43
+| chr6 | 26157099 | C>G | P161A |
44
+| chr6 | 26157099 | C>T | P161S |
45
+| chr6 | 26157102 | G>A | A162T |
46
+| chr6 | 26157105 | G>A | A163T |
47
+| chr6 | 26157106 | C>T | A163V |
48
+| chr6 | 26157108 | G>A | A164T |
49
+| chr6 | 26157108 | G>C | A164P |
50
+| chr6 | 26157109 | C>G | A164G |
51
+| chr6 | 26157109 | C>T | A164V |
52
+| chr6 | 26157112 | C>G | A165G |
53
+| chr6 | 26157112 | C>T | A165V |
54
+| chr6 | 26157114 | G>A | G166R |
55
+| chr6 | 26157118 | C>T | A167V |
56
+| chr6 | 26157121 | A>T | K168I |
57
+| chr6 | 26157139 | A>G | K174R |
58
+
36 59
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H1E_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H1E_protein_hg38.html)
37 60
38 61
![image](images/proteinpaint/HIST1H1E_NM_005321.svg)
HIST1H2AC.md
... ...
@@ -27,6 +27,30 @@
27 27
28 28
29 29
30
+ ## HIST1H2AC Hotspots
31
+
32
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
33
+ | :---:| :---: | :--: | :---: |
34
+| chr6 | 26124549 | G>T | R30L |
35
+| chr6 | 26124560 | CTGCTCCG>- | L34* |
36
+| chr6 | 26124578 | T>G | Y40D |
37
+| chr6 | 26124581 | G>A | A41T |
38
+| chr6 | 26124690 | C>G | T77S |
39
+| chr6 | 26124709 | C>G | H83Q |
40
+| chr6 | 26124737 | G>A | E93K |
41
+| chr6 | 26124740 | C>G | L94V |
42
+| chr6 | 26124740 | C>T | L94F |
43
+| chr6 | 26124767 | A>G | I103V |
44
+| chr6 | 26124769 | T>G | I103M |
45
+| chr6 | 26124770 | G>A | A104T |
46
+| chr6 | 26124770 | G>C | A104P |
47
+| chr6 | 26124771 | C>G | A104G |
48
+| chr6 | 26124771 | C>T | A104V |
49
+| chr6 | 26124791 | A>G | N111D |
50
+| chr6 | 26124800 | G>A | A114T |
51
+| chr6 | 26124819 | A>G | K120R |
52
+| chr6 | 26124832 | CC>TT | H125Y |
53
+
30 54
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H2AC_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H2AC_protein_hg38.html)
31 55
32 56
View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H2AC.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H2AC_hg38.html)
HIST1H2AG.md
... ...
@@ -28,6 +28,16 @@
28 28
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
29 29
30 30
31
+ ## HIST1H2AG Hotspots
32
+
33
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
34
+ | :---:| :---: | :--: | :---: |
35
+| chr6 | 27101075 | G>T | K75N |
36
+| chr6 | 27101083 | G>A | R78H |
37
+| chr6 | 27101100 | C>G | L84V |
38
+| chr6 | 27101126 | G>T | E92D |
39
+| chr6 | 27101130 | C>G | L94V |
40
+
31 41
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H2AG_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H2AG_protein_hg38.html)
32 42
33 43
![image](images/proteinpaint/HIST1H2AG_NM_021064.svg)
HIST1H2AM.md
... ...
@@ -33,6 +33,16 @@
33 33
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
34 34
35 35
36
+ ## HIST1H2AM Hotspots
37
+
38
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
39
+ | :---:| :---: | :--: | :---: |
40
+| chr6 | 27860549 | C>G | A127P |
41
+| chr6 | 27860548 | G>C | A127G |
42
+| chr6 | 27860548 | G>A | A127V |
43
+| chr6 | 27860542 | C>T | G129D |
44
+| chr6 | 27860538 | C>G | K130N |
45
+
36 46
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H2AM_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H2AM_protein_hg38.html)
37 47
38 48
![image](images/proteinpaint/HIST1H2AM_NM_003514.svg)
HIST1H2BC.md
... ...
@@ -29,6 +29,17 @@
29 29
> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
30 30
31 31
32
+ ## HIST1H2BC Hotspots
33
+
34
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
35
+ | :---:| :---: | :--: | :---: |
36
+| chr6 | 26123951 | C>T | G61D |
37
+| chr6 | 26123944 | C>T | M63I |
38
+| chr6 | 26123917 | C>G | E72D |
39
+| chr6 | 26123886 | G>A | H83Y |
40
+| chr6 | 26123881 | G>C | Y84* |
41
+| chr6 | 26123874 | G>A | R87C |
42
+
32 43
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H2BC_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H2BC_protein_hg38.html)
33 44
34 45
View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H2BC.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H2BC_hg38.html)
HIST1H3B.md
... ...
@@ -27,6 +27,12 @@
27 27
28 28
29 29
30
+ ## HIST1H3B Hotspots
31
+
32
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
33
+ | :---:| :---: | :--: | :---: |
34
+| chr6 | 26032028 | G>C | S87R |
35
+
30 36
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H3B_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H3B_protein_hg38.html)
31 37
32 38
View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H3B.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H3B_hg38.html)
HIST1H3D.md
... ...
@@ -26,6 +26,14 @@
26 26
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
27 27
28 28
29
+ ## HIST1H3D Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr6 | 26197218 | G>C | S87R |
34
+| chr6 | 26197219 | C>G | S87T |
35
+| chr6 | 26197219 | C>T | S87N |
36
+
29 37
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H3D_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H3D_protein_hg38.html)
30 38
31 39
![image](images/proteinpaint/HIST1H3D_NM_003530.svg)
HIST1H3J.md
... ...
@@ -26,6 +26,14 @@
26 26
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
27 27
28 28
29
+ ## HIST1H3J Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr6 | 27858236 | G>C | A112G |
34
+| chr6 | 27858222 | G>A | R117C |
35
+| chr6 | 27858210 | T>G | M121L |
36
+
29 37
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H3J_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HIST1H3J_protein_hg38.html)
30 38
31 39
![image](images/proteinpaint/HIST1H3J_NM_003535.svg)
HLA-A.md
... ...
@@ -28,6 +28,13 @@
28 28
29 29
30 30
31
+ ## HLA-A Hotspots
32
+
33
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
34
+ | :---:| :---: | :--: | :---: |
35
+| chr6 | 29910596 | T>A | F46I |
36
+| chr6 | 29910609 | G>A | G50D |
37
+
31 38
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HLA-A_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HLA-A_protein_hg38.html)
32 39
33 40
![image](images/proteinpaint/HLA-A_NM_002116.svg)
HLA-B.md
... ...
@@ -31,6 +31,18 @@
31 31
32 32
33 33
34
+ ## HLA-B Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr6 | 31324659 | C>T | G50D |
39
+| chr6 | 31324659 | C>A | G50V |
40
+| chr6 | 31324642 | G>C | Q56E |
41
+| chr6 | 31324630 | A>T | F60I |
42
+| chr6 | 31324583 | C>T | W75* |
43
+| chr6 | 31324583 | C>G | W75C |
44
+| chr6 | 31324576 | G>A | Q78* |
45
+
34 46
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HLA-B_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HLA-B_protein_hg38.html)
35 47
36 48
![image](images/proteinpaint/HLA-B_NM_005514.svg)
HNRNPH1.md
... ...
@@ -25,6 +25,12 @@
25 25
26 26
27 27
28
+ ## HNRNPH1 Hotspots
29
+
30
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
31
+ | :---:| :---: | :--: | :---: |
32
+| chr5 | 179046407 | C>A | G133= |
33
+
28 34
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HNRNPH1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HNRNPH1_protein_hg38.html)
29 35
30 36
![image](images/proteinpaint/HNRNPH1_NM_005520.svg)
HNRNPU.md
... ...
@@ -36,6 +36,14 @@
36 36
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
37 37
38 38
39
+ ## HNRNPU Hotspots
40
+
41
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
42
+ | :---:| :---: | :--: | :---: |
43
+| chr1 | 245027102 | G>A | Q170* |
44
+| chr1 | 245027099 | G>C | Q171E |
45
+| chr1 | 245027099 | G>A | Q171* |
46
+
39 47
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HNRNPU_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HNRNPU_protein_hg38.html)
40 48
41 49
![image](images/proteinpaint/HNRNPU_NM_031844.svg)
HVCN1.md
... ...
@@ -31,6 +31,14 @@
31 31
32 32
33 33
34
+ ## HVCN1 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr12 | 111099150 | T>G | Y42S |
39
+| chr12 | 111099150 | T>C | Y42C |
40
+| chr12 | 111099142 | A>T | W45R |
41
+
34 42
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HVCN1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/HVCN1_protein_hg38.html)
35 43
36 44
![image](images/proteinpaint/HVCN1_NM_001040107.svg)
ID3.md
... ...
@@ -38,6 +38,57 @@
38 38
> First described in BL in 2012 by [Richter J](https://pubmed.ncbi.nlm.nih.gov/23143595). First described in FL in 2023 by [Russler-Germain DA](https://pubmed.ncbi.nlm.nih.gov/37493986)
39 39
40 40
41
+ ## ID3 Hotspots
42
+
43
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
44
+ | :---:| :---: | :--: | :---: |
45
+| chr1 | 23885787 | ATGTCGTCCAGCA>- | L40* |
46
+| chr1 | 23885787 | A>T | M44K |
47
+| chr1 | 23885782 | G>A | H46Y |
48
+| chr1 | 23885778 | C>T | C47Y |
49
+| chr1 | 23885777 | G>T | C47* |
50
+| chr1 | 23885776 | A>G | Y48H |
51
+| chr1 | 23885775 | T>G | Y48S |
52
+| chr1 | 23885774 | G>T | Y48* |
53
+| chr1 | 23885774 | G>C | Y48* |
54
+| chr1 | 23885761 | C>A | E53* |
55
+| chr1 | 23885758 | G>C | L54V |
56
+| chr1 | 23885754 | A>T | V55E |
57
+| chr1 | 23885754 | A>G | V55A |
58
+| chr1 | 23885752 | G>T | P56T |
59
+| chr1 | 23885752 | G>C | P56A |
60
+| chr1 | 23885752 | G>A | P56S |
61
+| chr1 | 23885751 | G>T | P56H |
62
+| chr1 | 23885751 | G>A | P56L |
63
+| chr1 | 23885748 | C>G | G57A |
64
+| chr1 | 23885748 | C>A | G57V |
65
+| chr1 | 23885740 | T>C | R60G |
66
+| chr1 | 23885740 | T>A | R60* |
67
+| chr1 | 23885737 | C>A | G61C |
68
+| chr1 | 23885733 | G>A | T62I |
69
+| chr1 | 23885731 | G>A | Q63* |
70
+| chr1 | 23885728 | GC>AT | L64F |
71
+| chr1 | 23885728 | G>T | L64I |
72
+| chr1 | 23885728 | G>C | L64V |
73
+| chr1 | 23885728 | G>A | L64F |
74
+| chr1 | 23885727 | A>T | L64H |
75
+| chr1 | 23885727 | A>G | L64P |
76
+| chr1 | 23885723 | G>C | S65R |
77
+| chr1 | 23885718 | A>T | V67E |
78
+| chr1 | 23885718 | A>G | V67A |
79
+| chr1 | 23885716 | C>T | E68K |
80
+| chr1 | 23885716 | C>A | E68* |
81
+| chr1 | 23885715 | T>A | E68V |
82
+| chr1 | 23885712 | A>G | I69T |
83
+| chr1 | 23885712 | A>C | I69S |
84
+| chr1 | 23885711 | G>C | I69M |
85
+| chr1 | 23885710 | G>C | L70V |
86
+| chr1 | 23885709 | A>T | L70Q |
87
+| chr1 | 23885709 | A>G | L70P |
88
+| chr1 | 23885709 | A>C | L70R |
89
+| chr1 | 23885707 | G>A | Q71* |
90
+| chr1 | 23885706 | T>C | Q71R |
91
+
41 92
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ID3_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ID3_protein_hg38.html)
42 93
43 94
![image](images/proteinpaint/ID3_NM_002167.svg)
IGLL5.md
... ...
@@ -36,6 +36,131 @@
36 36
37 37
38 38
39
+ ## IGLL5 Hotspots
40
+
41
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
42
+ | :---:| :---: | :--: | :---: |
43
+| chr22 | 23230340 | A>T | H36L |
44
+| chr22 | 23230341 | T>A | H36Q |
45
+| chr22 | 23230343 | G>A | G37D |
46
+| chr22 | 23230346 | T>C | L38P |
47
+| chr22 | 23230346 | T>G | L38R |
48
+| chr22 | 23230348 | C>A | L39M |
49
+| chr22 | 23230348 | C>G | L39V |
50
+| chr22 | 23230348 | CT>GC | L39A |
51
+| chr22 | 23230349 | T>A | L39Q |
52
+| chr22 | 23230349 | T>C | L39P |
53
+| chr22 | 23230351 | C>T | R40C |
54
+| chr22 | 23230357 | A>C | M42L |
55
+| chr22 | 23230357 | A>G | M42V |
56
+| chr22 | 23230357 | A>T | M42L |
57
+| chr22 | 23230358 | T>A | M42K |
58
+| chr22 | 23230358 | T>C | M42T |
59
+| chr22 | 23230359 | G>A | M42I |
60
+| chr22 | 23230359 | G>C | M42I |
61
+| chr22 | 23230359 | GG>AC | MV42IL |
62
+| chr22 | 23230360 | G>A | V43I |
63
+| chr22 | 23230360 | G>C | V43L |
64
+| chr22 | 23230360 | G>T | V43F |
65
+| chr22 | 23230361 | T>C | V43A |
66
+| chr22 | 23230361 | T>G | V43G |
67
+| chr22 | 23230361 | TT>AG | V43E |
68
+| chr22 | 23230361 | TT>CC | V43A |
69
+| chr22 | 23230363 | G>A | A44T |
70
+| chr22 | 23230363 | G>T | A44S |
71
+| chr22 | 23230363 | GC>AT | A44I |
72
+| chr22 | 23230364 | C>A | A44E |
73
+| chr22 | 23230364 | C>G | A44G |
74
+| chr22 | 23230364 | C>T | A44V |
75
+| chr22 | 23230365 | AC>GT | P45S |
76
+| chr22 | 23230366 | C>A | P45T |
77
+| chr22 | 23230366 | C>G | P45A |
78
+| chr22 | 23230366 | C>T | P45S |
79
+| chr22 | 23230367 | C>T | P45L |
80
+| chr22 | 23230369 | C>G | Q46E |
81
+| chr22 | 23230370 | A>G | Q46R |
82
+| chr22 | 23230370 | A>T | Q46L |
83
+| chr22 | 23230372 | A>C | S47R |
84
+| chr22 | 23230372 | A>T | S47C |
85
+| chr22 | 23230373 | G>A | S47N |
86
+| chr22 | 23230373 | G>C | S47T |
87
+| chr22 | 23230374 | C>G | S47R |
88
+| chr22 | 23230376 | G>A | G48E |
89
+| chr22 | 23230379 | A>C | D49A |
90
+| chr22 | 23230379 | A>G | D49G |
91
+| chr22 | 23230381 | C>A | P50T |
92
+| chr22 | 23230381 | C>G | P50A |
93
+| chr22 | 23230381 | C>T | P50S |
94
+| chr22 | 23230382 | C>G | P50R |
95
+| chr22 | 23230382 | C>T | P50L |
96
+| chr22 | 23230385 | A>C | D51A |
97
+| chr22 | 23230386 | C>A | D51E |
98
+| chr22 | 23230386 | CC>AA | DP51ET |
99
+| chr22 | 23230387 | C>A | P52T |
100
+| chr22 | 23230387 | C>T | P52S |
101
+| chr22 | 23230388 | C>T | P52L |
102
+| chr22 | 23230390 | G>A | G53R |
103
+| chr22 | 23230391 | G>A | G53E |
104
+| chr22 | 23230393 | G>A | A54T |
105
+| chr22 | 23230393 | G>C | A54P |
106
+| chr22 | 23230394 | C>A | A54D |
107
+| chr22 | 23230394 | C>G | A54G |
108
+| chr22 | 23230394 | C>T | A54V |
109
+| chr22 | 23230396 | T>C | S55P |
110
+| chr22 | 23230397 | C>A | S55* |
111
+| chr22 | 23230399 | G>A | V56I |
112
+| chr22 | 23230399 | G>C | V56L |
113
+| chr22 | 23230399 | G>T | V56F |
114
+| chr22 | 23230399 | GT>CC | V56P |
115
+| chr22 | 23230400 | T>C | V56A |
116
+| chr22 | 23230400 | T>G | V56G |
117
+| chr22 | 23230402 | G>A | G57R |
118
+| chr22 | 23230402 | G>T | G57* |
119
+| chr22 | 23230403 | G>A | G57E |
120
+| chr22 | 23230403 | G>C | G57A |
121
+| chr22 | 23230405 | A>G | S58G |
122
+| chr22 | 23230405 | A>T | S58C |
123
+| chr22 | 23230405 | AG>GA | S58D |
124
+| chr22 | 23230406 | G>A | S58N |
125
+| chr22 | 23230407 | C>G | S58R |
126
+| chr22 | 23230408 | A>C | S59R |
127
+| chr22 | 23230408 | A>G | S59G |
128
+| chr22 | 23230409 | G>C | S59T |
129
+| chr22 | 23230409 | G>T | S59I |
130
+| chr22 | 23230410 | C>G | S59R |
131
+| chr22 | 23230414 | T>C | S61P |
132
+| chr22 | 23230414 | T>G | S61A |
133
+| chr22 | 23230415 | C>G | S61C |
134
+| chr22 | 23230415 | C>T | S61F |
135
+| chr22 | 23230418 | G>A | S62N |
136
+| chr22 | 23230418 | G>C | S62T |
137
+| chr22 | 23230419 | C>A | S62R |
138
+| chr22 | 23230419 | C>G | S62R |
139
+| chr22 | 23230420 | C>G | L63V |
140
+| chr22 | 23230421 | T>A | L63Q |
141
+| chr22 | 23230426 | A>G | S65G |
142
+| chr22 | 23230427 | G>A | S65N |
143
+| chr22 | 23230427 | G>C | S65T |
144
+| chr22 | 23230428 | C>A | S65R |
145
+| chr22 | 23230428 | C>G | S65R |
146
+| chr22 | 23230430 | T>A | L66Q |
147
+| chr22 | 23230430 | T>G | L66R |
148
+| chr22 | 23230432 | T>C | W67R |
149
+| chr22 | 23230432 | T>G | W67G |
150
+| chr22 | 23230434 | G>A | W67* |
151
+| chr22 | 23230435 | GGC>AAT | G68N |
152
+| chr22 | 23230436 | G>A | G68D |
153
+| chr22 | 23230436 | G>C | G68A |
154
+| chr22 | 23230436 | G>T | G68V |
155
+| chr22 | 23230437 | C>T | G68= |
156
+| chr22 | 23230438 | A>C | R69= |
157
+| chr22 | 23230438 | A>G | R69G |
158
+| chr22 | 23230439 | G>A | R69K |
159
+| chr22 | 23230439 | G>C | R69T |
160
+| chr22 | 23235887 | C>T | L72F |
161
+| chr22 | 23235906 | G>C | R78T |
162
+| chr22 | 23235921 | G>A | C83Y |
163
+
39 164
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IGLL5_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IGLL5_protein_hg38.html)
40 165
41 166
![image](images/proteinpaint/IGLL5_NM_001178126.svg)
IKBKE.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IKBKE_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IKBKE_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/IKBKE_NM_014002.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IKBKE.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IKBKE_hg38.html)
5
+
6
+![image](images/proteinpaint/IKBKE.svg)
IKZF3.md
... ...
@@ -37,6 +37,13 @@
37 37
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468). First described in DLBCL in 2017 by [Mareschal S](https://pubmed.ncbi.nlm.nih.gov/28479318)
38 38
39 39
40
+ ## IKZF3 Hotspots
41
+
42
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
43
+ | :---:| :---: | :--: | :---: |
44
+| chr17 | 37947782 | T>C | N160S |
45
+| chr17 | 37947776 | A>C | L162R |
46
+
40 47
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IKZF3_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IKZF3_protein_hg38.html)
41 48
42 49
![image](images/proteinpaint/IKZF3_NM_012481.svg)
IL4R.md
... ...
@@ -32,6 +32,12 @@
32 32
> First described in DLBCL in 2021 by [Duns G](https://pubmed.ncbi.nlm.nih.gov/33684939)
33 33
34 34
35
+ ## IL4R Hotspots
36
+
37
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
38
+ | :---:| :---: | :--: | :---: |
39
+| chr16 | 27367183 | T>A | I242N |
40
+
35 41
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IL4R_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IL4R_protein_hg38.html)
36 42
37 43
![image](images/proteinpaint/IL4R_NM_000418.svg)
IRF1.md
... ...
@@ -29,4 +29,10 @@
29 29
|chr5 |131823933 |131826458|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr5%3A131823933%2D131826458)|active_promoter |
30 30
31 31
> [!NOTE]
32
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IRF1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IRF1_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/IRF1_NM_002198.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IRF1.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IRF1_hg38.html)
5
+
6
+![image](images/proteinpaint/IRF1.svg)
IRF4.md
... ...
@@ -34,6 +34,15 @@
34 34
> First described in DLBCL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119)
35 35
36 36
37
+ ## IRF4 Hotspots
38
+
39
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
40
+ | :---:| :---: | :--: | :---: |
41
+| chr6 | 393328 | A>G | K59R |
42
+| chr6 | 393340 | A>G | N63S |
43
+| chr6 | 393360 | C>G | L70V |
44
+| chr6 | 393360 | C>T | L70F |
45
+
37 46
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IRF4_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IRF4_protein_hg38.html)
38 47
39 48
![image](images/proteinpaint/IRF4_NM_002460.svg)
IRF8.md
... ...
@@ -36,6 +36,19 @@
36 36
37 37
38 38
39
+ ## IRF8 Hotspots
40
+
41
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
42
+ | :---:| :---: | :--: | :---: |
43
+| chr16 | 85936688 | T>C | Y23H |
44
+| chr16 | 85936701 | T>G | I27S |
45
+| chr16 | 85936784 | T>G | S55A |
46
+| chr16 | 85936788 | T>C | I56T |
47
+| chr16 | 85942602 | G>T | A61S |
48
+| chr16 | 85942618 | A>G | K66R |
49
+| chr16 | 85942671 | T>C | C84R |
50
+| chr16 | 85942692 | G>A | D91N |
51
+
39 52
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IRF8_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/IRF8_protein_hg38.html)
40 53
41 54
![image](images/proteinpaint/IRF8_NM_002163.svg)
ITPKB.md
... ...
@@ -36,6 +36,13 @@
36 36
> First described in DLBCL in 2018 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/29641966)
37 37
38 38
39
+ ## ITPKB Hotspots
40
+
41
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
42
+ | :---:| :---: | :--: | :---: |
43
+| chr1 | 226925148 | G>C | Y4* |
44
+| chr1 | 226925148 | G>T | Y4* |
45
+
39 46
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ITPKB_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ITPKB_protein_hg38.html)
40 47
41 48
![image](images/proteinpaint/ITPKB_NM_002221.svg)
JAK1.md
... ...
@@ -27,6 +27,12 @@
27 27
> First described in DLBCL in 2013 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/23292937)
28 28
29 29
30
+ ## JAK1 Hotspots
31
+
32
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
33
+ | :---:| :---: | :--: | :---: |
34
+| chr1 | 65301158 | C>A | G1097V |
35
+
30 36
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/JAK1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/JAK1_protein_hg38.html)
31 37
32 38
![image](images/proteinpaint/JAK1_NM_002227.svg)
JUNB.md
... ...
@@ -26,6 +26,9 @@
26 26
> [!NOTE]
27 27
> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
28 28
29
+> [!WARNING]
30
+> Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1)
31
+
29 32
30 33
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/JUNB_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/JUNB_protein_hg38.html)
31 34
JUP.md
... ...
@@ -21,4 +21,10 @@
21 21
22 22
23 23
> [!NOTE]
24
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/JUP_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/JUP_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/JUP_NM_002230.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/JUP.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/JUP_hg38.html)
5
+
6
+![image](images/proteinpaint/JUP.svg)
KIR3DL1.md
... ...
@@ -24,6 +24,13 @@
24 24
> First described in FL in 2023 by [Kalmbach S](https://pubmed.ncbi.nlm.nih.gov/37563306)
25 25
26 26
27
+ ## KIR3DL1 Hotspots
28
+
29
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
30
+ | :---:| :---: | :--: | :---: |
31
+| chr19 | 55331362 | C>T | P184S |
32
+| chr19 | 55331372 | T>G | L187R |
33
+
27 34
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KIR3DL1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KIR3DL1_protein_hg38.html)
28 35
29 36
![image](images/proteinpaint/KIR3DL1_NM_013289.svg)
KLF2.md
... ...
@@ -34,6 +34,21 @@
34 34
> First described in DLBCL in 2018 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/29641966)
35 35
36 36
37
+ ## KLF2 Hotspots
38
+
39
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
40
+ | :---:| :---: | :--: | :---: |
41
+| chr19 | 16436719 | G>C | K256N |
42
+| chr19 | 16436723 | A>G | K258E |
43
+| chr19 | 16436726 | C>G | R259G |
44
+| chr19 | 16436726 | C>T | R259C |
45
+| chr19 | 16436755 | CA>TC | T269P |
46
+| chr19 | 16436769 | C>T | T273I |
47
+| chr19 | 16436772 | G>A | C274Y |
48
+| chr19 | 16436775 | G>A | S275N |
49
+| chr19 | 16436775 | G>C | S275T |
50
+| chr19 | 16436784 | G>A | G278D |
51
+
37 52
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KLF2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KLF2_protein_hg38.html)
38 53
39 54
![image](images/proteinpaint/KLF2_NM_016270.svg)
KLHL14.md
... ...
@@ -27,6 +27,15 @@
27 27
> First described in DLBCL in 2013 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/23292937)
28 28
29 29
30
+ ## KLHL14 Hotspots
31
+
32
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
33
+ | :---:| :---: | :--: | :---: |
34
+| chr18 | 30349909 | G>A | L216F |
35
+| chr18 | 30349905 | T>G | N217T |
36
+| chr18 | 30349902 | A>C | F218C |
37
+| chr18 | 30349882 | G>C | L225V |
38
+
30 39
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KLHL14_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KLHL14_protein_hg38.html)
31 40
32 41
![image](images/proteinpaint/KLHL14_NM_020805.svg)
KLHL21.md
... ...
@@ -32,6 +32,14 @@
32 32
> First described in DLBCL in 2018 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/29641966)
33 33
34 34
35
+ ## KLHL21 Hotspots
36
+
37
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
38
+ | :---:| :---: | :--: | :---: |
39
+| chr1 | 6662199 | G>T | P227T |
40
+| chr1 | 6662178 | G>C | L234V |
41
+| chr1 | 6662172 | C>T | A236T |
42
+
35 43
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KLHL21_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KLHL21_protein_hg38.html)
36 44
37 45
![image](images/proteinpaint/KLHL21_NM_014851.svg)
KLHL6.md
... ...
@@ -36,6 +36,33 @@
36 36
37 37
38 38
39
+ ## KLHL6 Hotspots
40
+
41
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
42
+ | :---:| :---: | :--: | :---: |
43
+| chr3 | 183273284 | C>A | G53V |
44
+| chr3 | 183273275 | A>T | L56* |
45
+| chr3 | 183273274 | T>G | L56F |
46
+| chr3 | 183273248 | A>T | L65Q |
47
+| chr3 | 183273248 | A>G | L65P |
48
+| chr3 | 183273235 | G>C | N69K |
49
+| chr3 | 183273234 | C>G | A70P |
50
+| chr3 | 183273224 | T>G | D73A |
51
+| chr3 | 183273223 | A>C | D73E |
52
+| chr3 | 183273218 | A>C | I75S |
53
+| chr3 | 183273204 | T>C | I80V |
54
+| chr3 | 183273198 | C>G | E82Q |
55
+| chr3 | 183273195 | A>G | F83L |
56
+| chr3 | 183273179 | A>T | V88E |
57
+| chr3 | 183273174 | G>A | L90F |
58
+| chr3 | 183273162 | T>C | S94G |
59
+| chr3 | 183273162 | T>A | S94C |
60
+| chr3 | 183273161 | C>T | S94N |
61
+| chr3 | 183273161 | C>G | S94T |
62
+| chr3 | 183273161 | C>A | S94I |
63
+| chr3 | 183273155 | T>A | Y96F |
64
+| chr3 | 183273153 | A>G | F97L |
65
+
39 66
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KLHL6_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KLHL6_protein_hg38.html)
40 67
41 68
![image](images/proteinpaint/KLHL6_NM_130446.svg)
KMT2D.md
... ...
@@ -33,6 +33,27 @@
33 33
> First described in BL in 2019 by [Grande BM](https://pubmed.ncbi.nlm.nih.gov/30617194). First described in DLBCL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119). First described in FL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119)
34 34
35 35
36
+ ## KMT2D Hotspots
37
+
38
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
39
+ | :---:| :---: | :--: | :---: |
40
+| chr12 | 49433521 | C>A | E2678* |
41
+| chr12 | 49433397 | G>A | Q2684* |
42
+| chr12 | 49433394 | G>A | R2685* |
43
+| chr12 | 49433388 | G>A | R2687* |
44
+| chr12 | 49432710 | A>T | L2810* |
45
+| chr12 | 49432699 | G>A | Q2814* |
46
+| chr12 | 49432684 | G>A | Q2819* |
47
+| chr12 | 49432681 | G>A | Q2820* |
48
+| chr12 | 49424741 | G>A | R4536* |
49
+| chr12 | 49420607 | G>A | R5048C |
50
+| chr12 | 49420606 | C>T | R5048H |
51
+| chr12 | 49420493 | G>A | R5086* |
52
+| chr12 | 49420214 | G>A | R5179C |
53
+| chr12 | 49420213 | C>T | R5179H |
54
+| chr12 | 49420115 | C>G | A5212P |
55
+| chr12 | 49420108 | C>T | R5214H |
56
+
36 57
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KMT2D_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KMT2D_protein_hg38.html)
37 58
38 59
![image](images/proteinpaint/KMT2D_NM_003482.svg)
KRAS.md
... ...
@@ -27,6 +27,16 @@
27 27
> First described in DLBCL in 2012 by [Lohr JG](https://pubmed.ncbi.nlm.nih.gov/22343534)
28 28
29 29
30
+ ## KRAS Hotspots
31
+
32
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
33
+ | :---:| :---: | :--: | :---: |
34
+| chr12 | 25398285 | C>A | G12C |
35
+| chr12 | 25398284 | C>T | G12D |
36
+| chr12 | 25398284 | C>A | G12V |
37
+| chr12 | 25398282 | C>A | G13C |
38
+| chr12 | 25398281 | C>T | G13D |
39
+
30 40
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KRAS_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/KRAS_protein_hg38.html)
31 41
32 42
![image](images/proteinpaint/KRAS_NM_033360.svg)
LAPTM5.md
... ...
@@ -26,4 +26,10 @@
26 26
|chr1 |31229012 |31232011|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr1%3A31229012%2D31232011)|NA |
27 27
28 28
> [!NOTE]
29
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/LAPTM5_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/LAPTM5_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/LAPTM5_NM_006762.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/LAPTM5.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/LAPTM5_hg38.html)
5
+
6
+![image](images/proteinpaint/LAPTM5.svg)
LRP12.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/LRP12_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/LRP12_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/LRP12_NM_013437.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/LRP12.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/LRP12_hg38.html)
5
+
6
+![image](images/proteinpaint/LRP12.svg)
MAGEC1.md
... ...
@@ -24,6 +24,15 @@
24 24
> First described in FL in 2023 by [Kalmbach S](https://pubmed.ncbi.nlm.nih.gov/37563306)
25 25
26 26
27
+ ## MAGEC1 Hotspots
28
+
29
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
30
+ | :---:| :---: | :--: | :---: |
31
+| chrX | 140993821 | T>G | L211V |
32
+| chrX | 140993827 | A>C | I213L |
33
+| chrX | 140994066 | G>C | Q292H |
34
+| chrX | 140994280 | A>G | T364A |
35
+
27 36
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MAGEC1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MAGEC1_protein_hg38.html)
28 37
29 38
![image](images/proteinpaint/MAGEC1_NM_005462.svg)
MAP2K1.md
... ...
@@ -27,6 +27,13 @@
27 27
28 28
29 29
30
+ ## MAP2K1 Hotspots
31
+
32
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
33
+ | :---:| :---: | :--: | :---: |
34
+| chr15 | 66727441 | T>C | F53L |
35
+| chr15 | 66727454 | A>C | K57T |
36
+
30 37
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MAP2K1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MAP2K1_protein_hg38.html)
31 38
32 39
![image](images/proteinpaint/MAP2K1_NM_002755.svg)
MEF2B.md
... ...
@@ -36,6 +36,18 @@
36 36
37 37
38 38
39
+ ## MEF2B Hotspots
40
+
41
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
42
+ | :---:| :---: | :--: | :---: |
43
+| chr19 | 19260066 | T>C | H76R |
44
+| chr19 | 19260064 | C>T | E77K |
45
+| chr19 | 19260050 | G>T | N81K |
46
+| chr19 | 19260045 | T>G | D83A |
47
+| chr19 | 19260045 | T>C | D83G |
48
+| chr19 | 19260045 | T>A | D83V |
49
+| chr19 | 19260042 | A>G | I84T |
50
+
39 51
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MEF2B_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MEF2B_protein_hg38.html)
40 52
41 53
![image](images/proteinpaint/MEF2B_NM_001145785.svg
MGEA5.md
... ...
@@ -21,4 +21,10 @@
21 21
22 22
23 23
> [!NOTE]
24
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MGEA5_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MGEA5_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/MGEA5_NM_012215.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MGEA5.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MGEA5_hg38.html)
5
+
6
+![image](images/proteinpaint/MGEA5.svg)
MTOR.md
... ...
@@ -31,6 +31,12 @@
31 31
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468). First described in DLBCL in 2013 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/23292937)
32 32
33 33
34
+ ## MTOR Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr1 | 11169376 | A>T | I2500N |
39
+
34 40
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MTOR_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MTOR_protein_hg38.html)
35 41
36 42
![image](images/proteinpaint/MTOR_NM_004958.svg)
MYC.md
... ...
@@ -36,6 +36,39 @@
36 36
37 37
38 38
39
+ ## MYC Hotspots
40
+
41
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
42
+ | :---:| :---: | :--: | :---: |
43
+| chr8 | 128750677 | C>A | P72T |
44
+| chr8 | 128750677 | C>G | P72A |
45
+| chr8 | 128750677 | C>T | P72S |
46
+| chr8 | 128750677 | CC>TT | P72F |
47
+| chr8 | 128750678 | C>G | P72R |
48
+| chr8 | 128750678 | C>T | P72L |
49
+| chr8 | 128750680 | A>G | T73A |
50
+| chr8 | 128750681 | C>A | T73N |
51
+| chr8 | 128750681 | C>T | T73I |
52
+| chr8 | 128750681 | CC>AT | T73N |
53
+| chr8 | 128750681 | CC>GT | T73S |
54
+| chr8 | 128750681 | CC>TA | T73I |
55
+| chr8 | 128750681 | CC>TG | T73M |
56
+| chr8 | 128750681 | CC>TT | T73I |
57
+| chr8 | 128750683 | C>G | P74A |
58
+| chr8 | 128750683 | C>T | P74S |
59
+| chr8 | 128750684 | C>T | P74L |
60
+| chr8 | 128750686 | C>A | P75T |
61
+| chr8 | 128750686 | C>G | P75A |
62
+| chr8 | 128750686 | C>T | P75S |
63
+| chr8 | 128750686 | CC>TT | P75F |
64
+| chr8 | 128750687 | C>A | P75H |
65
+| chr8 | 128750687 | C>G | P75R |
66
+| chr8 | 128750692 | T>C | S77P |
67
+| chr8 | 128750692 | T>G | S77A |
68
+| chr8 | 128750693 | C>G | S77C |
69
+| chr8 | 128750695 | C>T | P78S |
70
+| chr8 | 128750696 | C>G | P78R |
71
+
39 72
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MYC_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MYC_protein_hg38.html)
40 73
41 74
![image](images/proteinpaint/MYC_NM_002467.svg)
MYCBP2.md
... ...
@@ -21,4 +21,10 @@
21 21
22 22
23 23
> [!NOTE]
24
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MYCBP2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MYCBP2_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/MYCBP2_NM_015057.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MYCBP2.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MYCBP2_hg38.html)
5
+
6
+![image](images/proteinpaint/MYCBP2.svg)
MYD88.md
... ...
@@ -31,6 +31,12 @@
31 31
32 32
33 33
34
+ ## MYD88 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr3 | 38182641 | T>C | L265P |
39
+
34 40
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MYD88_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MYD88_protein_hg38.html)
35 41
36 42
![image](images/proteinpaint/MYD88_NM_002468.svg)
MYO1E.md
... ...
@@ -29,6 +29,13 @@
29 29
30 30
31 31
32
+ ## MYO1E Hotspots
33
+
34
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
35
+ | :---:| :---: | :--: | :---: |
36
+| chr15 | 59664698 | A>G | M1? |
37
+| chr15 | 59664699 | T>A | M1? |
38
+
32 39
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MYO1E_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/MYO1E_protein_hg38.html)
33 40
34 41
![image](images/proteinpaint/MYO1E_NM_004998.svg)
N2RF2.md
... ...
@@ -21,4 +21,8 @@
21 21
22 22
23 23
> [!NOTE]
24
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/N2RF2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/N2RF2_protein_hg38.html)
1
+
2
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/N2RF2.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/N2RF2_hg38.html)
3
+
4
+![image](images/proteinpaint/N2RF2.svg)
NCOR2.md
... ...
@@ -31,6 +31,11 @@
31 31
> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096)
32 32
33 33
34
+ ## NCOR2 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+
34 39
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/NCOR2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/NCOR2_protein_hg38.html)
35 40
36 41
![image](images/proteinpaint/NCOR2_NM_006312.svg)
NFKB1.md
... ...
@@ -25,6 +25,14 @@
25 25
26 26
27 27
28
+ ## NFKB1 Hotspots
29
+
30
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
31
+ | :---:| :---: | :--: | :---: |
32
+| chr4 | 103459054 | C>T | H67Y |
33
+| chr4 | 103459061 | G>A | G69E |
34
+| chr4 | 103501730 | G>A | D257N |
35
+
28 36
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/NFKB1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/NFKB1_protein_hg38.html)
29 37
30 38
![image](images/proteinpaint/NFKB1_NM_003998.svg)
NOL9.md
... ...
@@ -25,6 +25,13 @@
25 25
26 26
27 27
28
+ ## NOL9 Hotspots
29
+
30
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
31
+ | :---:| :---: | :--: | :---: |
32
+| chr1 | 6614187 | G>C | L126V |
33
+| chr1 | 6614167 | C>A | Q132H |
34
+
28 35
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/NOL9_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/NOL9_protein_hg38.html)
29 36
30 37
![image](images/proteinpaint/NOL9_NM_024654.svg)
NOTCH1.md
... ...
@@ -31,6 +31,13 @@
31 31
> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597). First described in DLBCL in 2012 by [Lohr JG](https://pubmed.ncbi.nlm.nih.gov/22343534)
32 32
33 33
34
+ ## NOTCH1 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr9 | 139401207 | C>T | V1288I |
39
+| chr9 | 139401199 | G>C | D1290E |
40
+
34 41
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/NOTCH1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/NOTCH1_protein_hg38.html)
35 42
36 43
![image](images/proteinpaint/NOTCH1_NM_017617.svg)
NOTCH2.md
... ...
@@ -29,6 +29,12 @@
29 29
30 30
31 31
32
+ ## NOTCH2 Hotspots
33
+
34
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
35
+ | :---:| :---: | :--: | :---: |
36
+| chr1 | 120458147 | G>A | R2400* |
37
+
32 38
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/NOTCH2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/NOTCH2_protein_hg38.html)
33 39
34 40
![image](images/proteinpaint/NOTCH2_NM_024408.svg)
PCBP1.md
... ...
@@ -31,6 +31,15 @@
31 31
> First described in BL in 2015 by [Wagener R](https://pubmed.ncbi.nlm.nih.gov/26173642)
32 32
33 33
34
+ ## PCBP1 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr2 | 70315424 | C>G | Y183* |
39
+| chr2 | 70315425 | C>T | Q184* |
40
+| chr2 | 70315439 | ->AGCT | S190* |
41
+| chr2 | 70315457 | C>A | C194* |
42
+
34 43
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PCBP1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PCBP1_protein_hg38.html)
35 44
36 45
![image](images/proteinpaint/PCBP1_NM_006196.svg)
PCLO.md
... ...
@@ -29,6 +29,14 @@
29 29
> First described in DLBCL in 2012 by [Lohr JG](https://pubmed.ncbi.nlm.nih.gov/22343534)
30 30
31 31
32
+ ## PCLO Hotspots
33
+
34
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
35
+ | :---:| :---: | :--: | :---: |
36
+| chr7 | 82585303 | G>T | L1656I |
37
+| chr7 | 82585302 | A>G | L1656P |
38
+| chr7 | 82544727 | T>C | K4192R |
39
+
32 40
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PCLO_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PCLO_protein_hg38.html)
33 41
34 42
![image](images/proteinpaint/PCLO_NM_033026.svg)
PDS5B.md
... ...
@@ -21,4 +21,10 @@
21 21
22 22
23 23
> [!NOTE]
24
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PDS5B_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PDS5B_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/PDS5B_NM_015032.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PDS5B.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PDS5B_hg38.html)
5
+
6
+![image](images/proteinpaint/PDS5B.svg)
PIK3CD.md
... ...
@@ -25,6 +25,14 @@
25 25
26 26
27 27
28
+ ## PIK3CD Hotspots
29
+
30
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
31
+ | :---:| :---: | :--: | :---: |
32
+| chr1 | 9787030 | G>A | E1021K |
33
+| chr1 | 9787040 | G>A | R1024H |
34
+| chr1 | 9787043 | A>G | E1025G |
35
+
28 36
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PIK3CD_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PIK3CD_protein_hg38.html)
29 37
30 38
![image](images/proteinpaint/PIK3CD_NM_005026.svg)
PIM1.md
... ...
@@ -38,6 +38,31 @@
38 38
> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096). First described in DLBCL in 2001 by [Pasqualucci L](https://pubmed.ncbi.nlm.nih.gov/11460166)
39 39
40 40
41
+ ## PIM1 Hotspots
42
+
43
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
44
+ | :---:| :---: | :--: | :---: |
45
+| chr6 | 37138406 | G>A | D19N |
46
+| chr6 | 37138419 | C>G | T23S |
47
+| chr6 | 37138423 | G>C | K24N |
48
+| chr6 | 37138423 | G>T | K24N |
49
+| chr6 | 37138427 | G>A | A26T |
50
+| chr6 | 37138430 | C>A | P27T |
51
+| chr6 | 37138549 | G>A | G28D |
52
+| chr6 | 37138554 | G>A | E30K |
53
+| chr6 | 37138560 | G>A | E32K |
54
+| chr6 | 37138563 | C>T | P33S |
55
+| chr6 | 37138566 | C>G | L34V |
56
+| chr6 | 37138573 | C>T | S36L |
57
+| chr6 | 37138576 | AG>TA | Q37L |
58
+| chr6 | 37138577 | G>C | Q37H |
59
+| chr6 | 37138583 | G>C | Q39H |
60
+| chr6 | 37138593 | C>G | L43V |
61
+| chr6 | 37138596 | C>A | L44M |
62
+| chr6 | 37138596 | C>G | L44V |
63
+| chr6 | 37138603 | GCG>- | G48del |
64
+| chr6 | 37138604 | C>A | S46R |
65
+
41 66
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PIM1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PIM1_protein_hg38.html)
42 67
43 68
![image](images/proteinpaint/PIM1_NM_002648.svg)
PLCG2.md
... ...
@@ -26,6 +26,12 @@
26 26
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
27 27
28 28
29
+ ## PLCG2 Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr16 | 81819719 | C>A | T42N |
34
+
29 35
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PLCG2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PLCG2_protein_hg38.html)
30 36
31 37
![image](images/proteinpaint/PLCG2_NM_002661.svg)
PNPO.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PNPO_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PNPO_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/PNPO_NM_018129.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PNPO.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PNPO_hg38.html)
5
+
6
+![image](images/proteinpaint/PNPO.svg)
POU2AF1.md
... ...
@@ -32,6 +32,15 @@
32 32
33 33
34 34
35
+ ## POU2AF1 Hotspots
36
+
37
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
38
+ | :---:| :---: | :--: | :---: |
39
+| chr11 | 111249894 | C>T | W3* |
40
+| chr11 | 111249899 | G>A | L2F |
41
+| chr11 | 111249900 | C>T | M1? |
42
+| chr11 | 111275352 | T>C | R6G |
43
+
35 44
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/POU2AF1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/POU2AF1_protein_hg38.html)
36 45
37 46
![image](images/proteinpaint/POU2AF1_NM_006235.svg)
POU2F2.md
... ...
@@ -27,6 +27,15 @@
27 27
28 28
29 29
30
+ ## POU2F2 Hotspots
31
+
32
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
33
+ | :---:| :---: | :--: | :---: |
34
+| chr19 | 42600031 | C>G | Q238H |
35
+| chr19 | 42600031 | C>A | Q238H |
36
+| chr19 | 42600030 | T>C | T239A |
37
+| chr19 | 42600030 | T>A | T239S |
38
+
30 39
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/POU2F2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/POU2F2_protein_hg38.html)
31 40
32 41
![image](images/proteinpaint/POU2F2_NM_002698.svg)
PPP4C.md
... ...
@@ -21,4 +21,16 @@
21 21
22 22
23 23
> [!NOTE]
24
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+ ## PPP4C Hotspots
1
+
2
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
3
+ | :---:| :---: | :--: | :---: |
4
+| chr16 | 30093814 | G>A | D54N |
5
+
6
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PPP4C_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PPP4C_protein_hg38.html)
7
+
8
+![image](images/proteinpaint/PPP4C_NM_002720.svg)
9
+
10
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PPP4C.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PPP4C_hg38.html)
11
+
12
+![image](images/proteinpaint/PPP4C.svg)
PRDM1.md
... ...
@@ -29,6 +29,18 @@
29 29
30 30
31 31
32
+ ## PRDM1 Hotspots
33
+
34
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
35
+ | :---:| :---: | :--: | :---: |
36
+| chr6 | 106536207 | T>A | C58* |
37
+| chr6 | 106536207 | T>G | C58W |
38
+| chr6 | 106536209 | C>T | T59I |
39
+| chr6 | 106536256 | A>T | T75S |
40
+| chr6 | 106536262 | G>T | V77F |
41
+| chr6 | 106536324 | G>A | E97= |
42
+| chr6 | 106536324 | G>C | E97D |
43
+
32 44
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PRDM1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PRDM1_protein_hg38.html)
33 45
34 46
![image](images/proteinpaint/PRDM1_NM_001198.svg)
PRKDC.md
... ...
@@ -29,6 +29,8 @@
29 29
30 30
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PRKDC_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PRKDC_protein_hg38.html)
31 31
32
+![image](images/proteinpaint/PRKDC_NM_006904.svg)
33
+
32 34
View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PRKDC.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PRKDC_hg38.html)
33 35
34 36
![image](images/proteinpaint/PRKDC.svg)
PTPRD.md
... ...
@@ -27,6 +27,12 @@
27 27
28 28
29 29
30
+ ## PTPRD Hotspots
31
+
32
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
33
+ | :---:| :---: | :--: | :---: |
34
+| chr9 | 8376670 | T>G | Q1481H |
35
+
30 36
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PTPRD_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/PTPRD_protein_hg38.html)
31 37
32 38
![image](images/proteinpaint/PTPRD_NM_002839.svg)
RAC2.md
... ...
@@ -31,6 +31,14 @@
31 31
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468). First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
32 32
33 33
34
+ ## RAC2 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr22 | 37627984 | G>T | N92K |
39
+| chr22 | 37627985 | T>C | N92S |
40
+| chr22 | 37627985 | T>G | N92T |
41
+
34 42
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/RAC2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/RAC2_protein_hg38.html)
35 43
36 44
![image](images/proteinpaint/RAC2_NM_002872.svg)
RBM6.md
... ...
@@ -21,4 +21,10 @@
21 21
22 22
23 23
> [!NOTE]
24
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/RBM6_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/RBM6_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/RBM6_NM_005777.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/RBM6.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/RBM6_hg38.html)
5
+
6
+![image](images/proteinpaint/RBM6.svg)
RHOA.md
... ...
@@ -29,6 +29,18 @@
29 29
30 30
31 31
32
+ ## RHOA Hotspots
33
+
34
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
35
+ | :---:| :---: | :--: | :---: |
36
+| chr3 | 49413010 | G>A | R5W |
37
+| chr3 | 49413009 | C>T | R5Q |
38
+| chr3 | 49412923 | A>C | Y34D |
39
+| chr3 | 49412922 | T>A | Y34F |
40
+| chr3 | 49412899 | A>G | Y42H |
41
+| chr3 | 49412898 | T>G | Y42S |
42
+| chr3 | 49412898 | T>C | Y42C |
43
+
32 44
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/RHOA_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/RHOA_protein_hg38.html)
33 45
34 46
![image](images/proteinpaint/RHOA_NM_001664.svg)
SALL3.md
... ...
@@ -26,6 +26,12 @@
26 26
> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
27 27
28 28
29
+ ## SALL3 Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr18 | 76756928 | C>T | A1170V |
34
+
29 35
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SALL3_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SALL3_protein_hg38.html)
30 36
31 37
![image](images/proteinpaint/SALL3_NM_171999.svg)
SETD1B.md
... ...
@@ -25,6 +25,17 @@
25 25
26 26
27 27
28
+ ## SETD1B Hotspots
29
+
30
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
31
+ | :---:| :---: | :--: | :---: |
32
+| chr12 | 122242755 | C>A | P38T |
33
+| chr12 | 122243045 | G>A | E66K |
34
+| chr12 | 122243058 | A>G | D70G |
35
+| chr12 | 122243060 | C>T | P71S |
36
+| chr12 | 122265950 | G>A | A1858T |
37
+| chr12 | 122265953 | C>T | R1859C |
38
+
28 39
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SETD1B_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SETD1B_protein_hg38.html)
29 40
30 41
View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SETD1B.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SETD1B_hg38.html)
SETD5.md
... ...
@@ -26,6 +26,9 @@
26 26
> [!NOTE]
27 27
> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
28 28
29
+> [!WARNING]
30
+> Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1)
31
+
29 32
30 33
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SETD5_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SETD5_protein_hg38.html)
31 34
SF3B1.md
... ...
@@ -31,6 +31,14 @@
31 31
> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
32 32
33 33
34
+ ## SF3B1 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr2 | 198266833 | T>G | K700T |
39
+| chr2 | 198266832 | T>G | K700N |
40
+| chr2 | 198266821 | A>C | I704S |
41
+
34 42
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SF3B1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SF3B1_protein_hg38.html)
35 43
36 44
![image](images/proteinpaint/SF3B1_NM_012433.svg)
SGK1.md
... ...
@@ -36,6 +36,28 @@
36 36
37 37
38 38
39
+ ## SGK1 Hotspots
40
+
41
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
42
+ | :---:| :---: | :--: | :---: |
43
+| chr6 | 134495730 | G>T | NA |
44
+| chr6 | 134495730 | G>C | NA |
45
+| chr6 | 134495729 | G>C | NA |
46
+| chr6 | 134495729 | G>A | NA |
47
+| chr6 | 134495724 | G>C | A121G |
48
+| chr6 | 134495724 | G>A | A121V |
49
+| chr6 | 134495717 | C>A | M123I |
50
+| chr6 | 134495716 | T>C | K124E |
51
+| chr6 | 134495715 | T>A | K124M |
52
+| chr6 | 134495713 | G>A | Q125* |
53
+| chr6 | 134495712 | T>A | Q125L |
54
+| chr6 | 134495711 | C>G | Q125H |
55
+| chr6 | 134495706 | C>T | R127K |
56
+| chr6 | 134495706 | C>A | R127M |
57
+| chr6 | 134495703 | A>T | M128K |
58
+| chr6 | 134495700 | CC>TG | G129H |
59
+| chr6 | 134495700 | CC>TA | G129Y |
60
+
39 61
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SGK1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SGK1_protein_hg38.html)
40 62
41 63
![image](images/proteinpaint/SGK1_NM_005627.svg)
SIAH2.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SIAH2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SIAH2_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/SIAH2_NM_005067.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SIAH2.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SIAH2_hg38.html)
5
+
6
+![image](images/proteinpaint/SIAH2.svg)
SLC34A2.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SLC34A2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SLC34A2_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/SLC34A2_NM_006424.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SLC34A2.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SLC34A2_hg38.html)
5
+
6
+![image](images/proteinpaint/SLC34A2.svg)
SMARCA4.md
... ...
@@ -33,6 +33,20 @@
33 33
> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597). First described in DLBCL in 2013 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/23292937). First described in FL in 2023 by [Russler-Germain DA](https://pubmed.ncbi.nlm.nih.gov/37493986)
34 34
35 35
36
+ ## SMARCA4 Hotspots
37
+
38
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
39
+ | :---:| :---: | :--: | :---: |
40
+| chr19 | 11134241 | C>A | H969Q |
41
+| chr19 | 11134251 | C>T | R973W |
42
+| chr19 | 11134252 | G>A | R973Q |
43
+| chr19 | 11141562 | C>T | P1180L |
44
+| chr19 | 11143973 | A>T | Q1185L |
45
+| chr19 | 11143982 | A>T | D1188V |
46
+| chr19 | 11143985 | G>A | R1189Q |
47
+| chr19 | 11143993 | C>T | R1192C |
48
+| chr19 | 11143994 | G>A | R1192H |
49
+
36 50
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SMARCA4_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SMARCA4_protein_hg38.html)
37 51
38 52
![image](images/proteinpaint/SMARCA4_NM_001128849.svg)
SMEK1.md
... ...
@@ -29,6 +29,8 @@
29 29
30 30
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SMEK1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SMEK1_protein_hg38.html)
31 31
32
+![image](images/proteinpaint/SMEK1_NM_001284280.svg)
33
+
32 34
View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SMEK1.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SMEK1_hg38.html)
33 35
34 36
![image](images/proteinpaint/SMEK1.svg)
SOCS1.md
... ...
@@ -36,6 +36,36 @@
36 36
37 37
38 38
39
+ ## SOCS1 Hotspots
40
+
41
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
42
+ | :---:| :---: | :--: | :---: |
43
+| chr16 | 11349022 | T>C | D105G |
44
+| chr16 | 11349019 | C>T | S106N |
45
+| chr16 | 11349018 | G>C | S106R |
46
+| chr16 | 11349006 | G>C | N110K |
47
+| chr16 | 11349004 | C>T | C111Y |
48
+| chr16 | 11349004 | C>G | C111S |
49
+| chr16 | 11349003 | G>C | C111W |
50
+| chr16 | 11349001 | A>T | F112Y |
51
+| chr16 | 11348989 | C>T | S116N |
52
+| chr16 | 11348988 | G>C | S116R |
53
+| chr16 | 11348987 | C>T | V117M |
54
+| chr16 | 11348981 | T>C | M119V |
55
+| chr16 | 11348980 | A>T | M119K |
56
+| chr16 | 11348977 | G>C | A120G |
57
+| chr16 | 11348972 | C>T | G122R |
58
+| chr16 | 11348972 | C>A | G122* |
59
+| chr16 | 11348969 | G>A | P123S |
60
+| chr16 | 11348962 | C>G | S125T |
61
+| chr16 | 11348956 | C>T | R127H |
62
+| chr16 | 11348951 | G>T | H129N |
63
+| chr16 | 11348951 | G>A | H129Y |
64
+| chr16 | 11348945 | G>A | Q131* |
65
+| chr16 | 11348936 | G>A | R134C |
66
+| chr16 | 11348933 | A>G | F135L |
67
+| chr16 | 11348932 | A>C | F135C |
68
+
39 69
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SOCS1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SOCS1_protein_hg38.html)
40 70
41 71
![image](images/proteinpaint/SOCS1_NM_003745.svg)
SPEN.md
... ...
@@ -25,6 +25,13 @@
25 25
26 26
27 27
28
+ ## SPEN Hotspots
29
+
30
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
31
+ | :---:| :---: | :--: | :---: |
32
+| chr1 | 16256846 | C>T | R1371* |
33
+| chr1 | 16261814 | C>T | R3027* |
34
+
28 35
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SPEN_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SPEN_protein_hg38.html)
29 36
30 37
![image](images/proteinpaint/SPEN_NM_015001.svg)
SRRM2.md
... ...
@@ -24,6 +24,12 @@
24 24
> First described in FL in 2023 by [Russler-Germain DA](https://pubmed.ncbi.nlm.nih.gov/37493986)
25 25
26 26
27
+ ## SRRM2 Hotspots
28
+
29
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
30
+ | :---:| :---: | :--: | :---: |
31
+| chr16 | 2814100 | C>T | P1191S |
32
+
27 33
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SRRM2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/SRRM2_protein_hg38.html)
28 34
29 35
![image](images/proteinpaint/SRRM2_NM_016333.svg)
STAT3.md
... ...
@@ -29,6 +29,15 @@
29 29
30 30
31 31
32
+ ## STAT3 Hotspots
33
+
34
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
35
+ | :---:| :---: | :--: | :---: |
36
+| chr17 | 40475330 | C>T | D566N |
37
+| chr17 | 40475325 | A>T | N567K |
38
+| chr17 | 40475318 | C>T | D570N |
39
+| chr17 | 40475317 | T>C | D570G |
40
+
32 41
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/STAT3_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/STAT3_protein_hg38.html)
33 42
34 43
![image](images/proteinpaint/STAT3_NM_139276.svg)
STAT6.md
... ...
@@ -31,6 +31,23 @@
31 31
32 32
33 33
34
+ ## STAT6 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr12 | 57496671 | C>G | G416R |
39
+| chr12 | 57496666 | G>T | N417K |
40
+| chr12 | 57496662 | C>T | D419N |
41
+| chr12 | 57496662 | C>G | D419H |
42
+| chr12 | 57496662 | C>A | D419Y |
43
+| chr12 | 57496661 | T>G | D419A |
44
+| chr12 | 57496661 | T>C | D419G |
45
+| chr12 | 57496661 | T>A | D419V |
46
+| chr12 | 57496658 | T>G | N420T |
47
+| chr12 | 57496658 | T>C | N420S |
48
+| chr12 | 57496656 | T>C | N421D |
49
+| chr12 | 57496654 | A>C | N421K |
50
+
34 51
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/STAT6_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/STAT6_protein_hg38.html)
35 52
36 53
![image](images/proteinpaint/STAT6_NM_003153.svg)
TBL1XR1.md
... ...
@@ -31,6 +31,19 @@
31 31
32 32
33 33
34
+ ## TBL1XR1 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr3 | 176752066 | A>C | H390Q |
39
+| chr3 | 176752053 | A>T | Y395N |
40
+| chr3 | 176752053 | A>C | Y395D |
41
+| chr3 | 176752052 | T>C | Y395C |
42
+| chr3 | 176750839 | A>G | Y446H |
43
+| chr3 | 176750838 | T>G | Y446S |
44
+| chr3 | 176750838 | T>C | Y446C |
45
+| chr3 | 176750836 | T>G | S447R |
46
+
34 47
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TBL1XR1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TBL1XR1_protein_hg38.html)
35 48
36 49
![image](images/proteinpaint/TBL1XR1_NM_024665.svg)
TCF3.md
... ...
@@ -26,6 +26,19 @@
26 26
> First described in BL in 2012 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/22885699)
27 27
28 28
29
+ ## TCF3 Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr19 | 1612366 | A>T | N551K |
34
+| chr19 | 1612366 | A>C | N551K |
35
+| chr19 | 1612349 | A>T | V557E |
36
+| chr19 | 1612344 | C>T | V559M |
37
+| chr19 | 1612337 | T>A | D561V |
38
+| chr19 | 1612336 | A>T | D561E |
39
+| chr19 | 1612336 | A>C | D561E |
40
+| chr19 | 1612329 | C>T | E564K |
41
+
29 42
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TCF3_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TCF3_protein_hg38.html)
30 43
31 44
![image](images/proteinpaint/TCF3_NM_003200.svg)
TIPARP.md
... ...
@@ -26,6 +26,9 @@
26 26
> [!NOTE]
27 27
> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
28 28
29
+> [!WARNING]
30
+> Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1)
31
+
29 32
30 33
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TIPARP_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TIPARP_protein_hg38.html)
31 34
TLR2.md
... ...
@@ -27,6 +27,13 @@
27 27
> First described in DLBCL in 2018 by [Chapuy B](https://pubmed.ncbi.nlm.nih.gov/29713087)
28 28
29 29
30
+ ## TLR2 Hotspots
31
+
32
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
33
+ | :---:| :---: | :--: | :---: |
34
+| chr4 | 154625039 | A>T | D327V |
35
+| chr4 | 154625042 | T>G | L328R |
36
+
30 37
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TLR2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TLR2_protein_hg38.html)
31 38
32 39
![image](images/proteinpaint/TLR2_NM_003264.svg)
TMEM30A.md
... ...
@@ -31,6 +31,14 @@
31 31
32 32
33 33
34
+ ## TMEM30A Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr6 | 75969072 | G>A | R226* |
39
+| chr6 | 75965985 | G>A | R307* |
40
+| chr6 | 75965975 | A>T | M310K |
41
+
34 42
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TMEM30A_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TMEM30A_protein_hg38.html)
35 43
36 44
![image](images/proteinpaint/TMEM30A_NM_018247.svg)
TNFAIP3.md
... ...
@@ -31,6 +31,14 @@
31 31
32 32
33 33
34
+ ## TNFAIP3 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr6 | 138197303 | G>A | E269K |
39
+| chr6 | 138198218 | C>T | R271* |
40
+| chr6 | 138198246 | G>A | R280Q |
41
+
34 42
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TNFAIP3_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TNFAIP3_protein_hg38.html)
35 43
36 44
![image](images/proteinpaint/TNFAIP3_NM_006290.svg)
TNFRSF14.md
... ...
@@ -31,6 +31,23 @@
31 31
32 32
33 33
34
+ ## TNFRSF14 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr1 | 2488104 | A>G | M1? |
39
+| chr1 | 2488105 | T>C | M1? |
40
+| chr1 | 2488105 | T>G | M1? |
41
+| chr1 | 2488106 | G>A | M1? |
42
+| chr1 | 2488107 | G>T | E2* |
43
+| chr1 | 2488123 | G>A | W7* |
44
+| chr1 | 2488124 | G>A | W7* |
45
+| chr1 | 2488132 | C>A | P10H |
46
+| chr1 | 2488138 | G>A | W12* |
47
+| chr1 | 2488139 | G>A | W12* |
48
+| chr1 | 2488152 | A>T | K17* |
49
+| chr1 | 2488156 | C>A | T18N |
50
+
34 51
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TNFRSF14_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TNFRSF14_protein_hg38.html)
35 52
36 53
![image](images/proteinpaint/TNFRSF14_NM_003820.svg)
TOX.md
... ...
@@ -29,6 +29,14 @@
29 29
30 30
31 31
32
+ ## TOX Hotspots
33
+
34
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
35
+ | :---:| :---: | :--: | :---: |
36
+| chr8 | 60031445 | C>G | K34N |
37
+| chr8 | 60031445 | C>T | K34= |
38
+| chr8 | 60031446 | T>G | K34T |
39
+
32 40
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TOX_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TOX_protein_hg38.html)
33 41
34 42
![image](images/proteinpaint/TOX_NM_014729.svg)
TPP1.md
... ...
@@ -21,4 +21,10 @@
21 21
22 22
23 23
> [!NOTE]
24
-> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TPP1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TPP1_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/TPP1_NM_000391.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TPP1.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TPP1_hg38.html)
5
+
6
+![image](images/proteinpaint/TPP1.svg)
TRAF6.md
... ...
@@ -24,4 +24,19 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+ ## TRAF6 Hotspots
1
+
2
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
3
+ | :---:| :---: | :--: | :---: |
4
+| chr11 | 36511924 | C>A | E345* |
5
+| chr11 | 36511915 | G>A | Q348* |
6
+| chr11 | 36511893 | C>T | W355* |
7
+| chr11 | 36511892 | C>T | W355* |
8
+
9
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TRAF6_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TRAF6_protein_hg38.html)
10
+
11
+![image](images/proteinpaint/TRAF6_NM_145803.svg)
12
+
13
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TRAF6.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TRAF6_hg38.html)
14
+
15
+![image](images/proteinpaint/TRAF6.svg)
TRRAP.md
... ...
@@ -25,6 +25,12 @@
25 25
26 26
27 27
28
+ ## TRRAP Hotspots
29
+
30
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
31
+ | :---:| :---: | :--: | :---: |
32
+| chr7 | 98509802 | C>T | S722F |
33
+
28 34
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TRRAP_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TRRAP_protein_hg38.html)
29 35
30 36
![image](images/proteinpaint/TRRAP_NM_003496.svg)
TTN.md
... ...
@@ -26,6 +26,12 @@
26 26
> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096)
27 27
28 28
29
+ ## TTN Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr2 | 179638249 | C>T | E2512K |
34
+
29 35
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TTN_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/TTN_protein_hg38.html)
30 36
31 37
![image](images/proteinpaint/TTN_NM_133378.svg)
UNC5B.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/UNC5B_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/UNC5B_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/UNC5B_NM_170744.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/UNC5B.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/UNC5B_hg38.html)
5
+
6
+![image](images/proteinpaint/UNC5B.svg)
VMA21.md
... ...
@@ -24,6 +24,14 @@
24 24
> First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
25 25
26 26
27
+ ## VMA21 Hotspots
28
+
29
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
30
+ | :---:| :---: | :--: | :---: |
31
+| chrX | 150573501 | C>T | R93* |
32
+| chrX | 150573509 | G>T | W95C |
33
+| chrX | 150573519 | A>G | K99E |
34
+
27 35
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/VMA21_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/VMA21_protein_hg38.html)
28 36
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![image](images/proteinpaint/VMA21_NM_001017980.svg)
VPS13B.md
... ...
@@ -25,6 +25,12 @@
25 25
26 26
27 27
28
+ ## VPS13B Hotspots
29
+
30
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
31
+ | :---:| :---: | :--: | :---: |
32
+| chr8 | 100829860 | A>T | Q2755H |
33
+
28 34
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/VPS13B_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/VPS13B_protein_hg38.html)
29 35
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![image](images/proteinpaint/VPS13B_NM_152564.svg)
WEE1.md
... ...
@@ -30,6 +30,15 @@
30 30
31 31
32 32
33
+ ## WEE1 Hotspots
34
+
35
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
36
+ | :---:| :---: | :--: | :---: |
37
+| chr11 | 9595762 | G>C | L94F |
38
+| chr11 | 9595887 | G>A | S136N |
39
+| chr11 | 9595888 | C>G | S136R |
40
+| chr11 | 9595889 | T>G | S137A |
41
+
33 42
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/WEE1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/WEE1_protein_hg38.html)
34 43
35 44
![image](images/proteinpaint/WEE1_NM_003390.svg)
WNK1.md
... ...
@@ -31,6 +31,12 @@
31 31
> First described in BL in 2023 by [Thomas N](https://pubmed.ncbi.nlm.nih.gov/36201743). First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
32 32
33 33
34
+ ## WNK1 Hotspots
35
+
36
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
37
+ | :---:| :---: | :--: | :---: |
38
+| chr12 | 968467 | G>A | R486Q |
39
+
34 40
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/WNK1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/WNK1_protein_hg38.html)
35 41
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![image](images/proteinpaint/WNK1_NM_018979.svg)
WNK2.md
... ...
@@ -26,6 +26,12 @@
26 26
> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
27 27
28 28
29
+ ## WNK2 Hotspots
30
+
31
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
32
+ | :---:| :---: | :--: | :---: |
33
+| chr9 | 96031211 | G>A | A1375T |
34
+
29 35
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/WNK2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/WNK2_protein_hg38.html)
30 36
31 37
![image](images/proteinpaint/WNK2_NM_006648.svg)
XIRP2.md
... ...
@@ -24,6 +24,12 @@
24 24
> First described in FL in 2023 by [Russler-Germain DA](https://pubmed.ncbi.nlm.nih.gov/37493986)
25 25
26 26
27
+ ## XIRP2 Hotspots
28
+
29
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
30
+ | :---:| :---: | :--: | :---: |
31
+| chr2 | 168107297 | G>A | R3132Q |
32
+
27 33
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/XIRP2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/XIRP2_protein_hg38.html)
28 34
29 35
![image](images/proteinpaint/XIRP2_NM_152381.svg)
XPO1.md
... ...
@@ -27,6 +27,13 @@
27 27
> First described in DLBCL in 2016 by [Mareschal S](https://pubmed.ncbi.nlm.nih.gov/26608593)
28 28
29 29
30
+ ## XPO1 Hotspots
31
+
32
+| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
33
+ | :---:| :---: | :--: | :---: |
34
+| chr2 | 61719471 | T>C | E571G |
35
+| chr2 | 61719472 | C>T | E571K |
36
+
30 37
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/XPO1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/XPO1_protein_hg38.html)
31 38
32 39
![image](images/proteinpaint/XPO1_NM_003400.svg)
ZEB2.md
... ...
@@ -4,7 +4,7 @@
4 4
5 5
|Entity|Tier|Description |
6 6
|:------:|:----:|-----------------------------------------|
7
-|DLBCL |2 |relevance in DLBCL not firmly established|
7
+|DLBCL |1 |high-confidence DLBCL gene|
8 8
## Mutation incidence
9 9
10 10
|Entity|source |frequency (%)|
ZFX.md
... ...
@@ -26,6 +26,9 @@
26 26
> [!NOTE]
27 27
> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
28 28
29
+> [!WARNING]
30
+> Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1)
31
+
29 32
30 33
View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ZFX_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ZFX_protein_hg38.html)
31 34
ZNF217.md
... ...
@@ -24,4 +24,10 @@
24 24
25 25
26 26
> [!NOTE]
27
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
... ...
\ No newline at end of file
0
+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ZNF217_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ZNF217_protein_hg38.html)
1
+
2
+![image](images/proteinpaint/ZNF217_NM_006526.svg)
3
+
4
+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ZNF217.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ZNF217_hg38.html)
5
+
6
+![image](images/proteinpaint/ZNF217.svg)