| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 472 |
Name | ATM |
Synonymous | AT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1;ataxia telangiectasia mutated;ATM;ataxia telangiectasia mutated |
Definition | A-T mutated|AT mutated|TEL1, telomere maintenance 1, homolog|serine-protein kinase ATM |
Position | 11q22-q23 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ATM | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
ATM_K792K; chr11; 108128333 |
SUB; SILENT; G; G/A; SOMATIC | HYPO; VALID; WGS |
ATM_L2312L; chr11; 108196913 |
SUB; SILENT; C; C/A; SOMATIC | RHB; VALID; WGS |
ATM_L2312L; chr11; 108196913 |
SUB; SILENT; C; C/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
ATM_L2312L; chr11; 108196913 |
SUB; SILENT; C; C/A; SOMATIC | RHB; PUTATIVE-HQ; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.6097C>G; p.L2033V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6097C>G; p.L2033V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6097C>G; p.L2033V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2921+1G>A; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2921+1G>A; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1010G>A; p.R337H; 11:107623009-107623009 |
liver | carcinoma; hepatocellular_carcinoma |
c.4777-2A>T; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.4777-2A>T; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.52G>A; p.D18N; |
liver | carcinoma; hepatocellular_carcinoma |
c.4852C>T; p.R1618*; |
large_intestine | carcinoma; adenocarcinoma |
c.3571A>T; p.K1191*; |
large_intestine | carcinoma; adenocarcinoma |
c.3993_3994ins29; p.I1332fs*27; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1402_1403delAA; p.K468fs*18; 11:107626804-107626805 |
NS | NS |
c.8860T>A; p.Y2954N; |
large_intestine | carcinoma; adenocarcinoma |
c.8412delA; p.M2805fs*1; 11:107719302-107719302 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9139C>T; p.R3047*; 11:107741413-107741413 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5858C>G; p.T1953R; 11:107686192-107686192 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9023G>A; p.R3008H; 11:107741297-107741297 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9054A>C; p.K3018N; 11:107741328-107741328 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8786+1G>T; p.?; 11:107729818-107729818 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.5558A>T; p.D1853V; 11:107680673-107680673 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7258G>C; p.A2420P; 11:107705126-107705126 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7268A>G; p.E2423G; 11:107705136-107705136 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7253_7254insGAA; p.K2418_R2419insK; 11:107705121-107705122 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1048G>A; p.A350T; 11:107623047-107623047 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1055T>C; p.I352T; 11:107623054-107623054 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6820G>A; p.A2274T; 11:107702007-107702007 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3910_3916delAGAGACA; p.R1304fs*43; 11:107660327-107660333 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3993_3994ins?; p.?fs; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8084G>C; p.G2695A; 11:107710979-107710979 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7865C>T; p.A2622V; 11:107708775-107708775 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.995A>G; p.Y332C; 11:107622994-107622994 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9022C>T; p.R3008C; 11:107741296-107741296 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.2250C>G; p.N750K; 11:107632277-107632277 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6709_6710delAA; p.K2237fs*11; 11:107701383-107701384 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7349_7350insT; p.L2450fs*11; 11:107706192-107706193 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.4081C>T; p.Q1361*; 11:107663624-107663624 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6638delA; p.K2213fs*22; 11:107701312-107701312 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.487C>T; p.Q163*; 11:107611762-107611762 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7890_7891insTATTA; p.A2631fs*2; 11:107708800-107708801 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.2563_2566delATGA; p.M855fs*24; 11:107643204-107643207 |
breast | carcinoma |
c.2702_2703insT; p.K902fs*18; 11:107644410-107644411 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.3993_3994ins29; p.I1332fs*27; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.7456C>G; p.R2486G; 11:107706299-107706299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.8138G>A; p.R2713K; 11:107711033-107711033 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; B_cell_lymphoma_unspecified |
c.2932T>C; p.S978P; 11:107647198-107647198 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; B_cell_lymphoma_unspecified |
c.1229T>C; p.V410A; 11:107625033-107625033 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma |
c.2572T>C; p.F858L; 11:107643213-107643213 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma |
c.3161C>G; p.P1054R; 11:107648666-107648666 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma |
c.6789A>C; p.R2263S; 11:107701463-107701463 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6161_6162insA; p.I2055fs*33; 11:107692013-107692014 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.3873_3992del120; p.V1292_Q1331del40; 11:107660290-107660409 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.5309C>G; p.S1770*; 11:107677716-107677716 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.8174A>G; p.D2725G; 11:107711804-107711804 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.9016G>C; p.A3006P; 11:107741290-107741290 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.9022C>T; p.R3008C; 11:107741296-107741296 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.5224G>C; p.A1742P; 11:107677631-107677631 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1058_1059delGT; p.C353fs*5; 11:107623057-107623058 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5224G>C; p.A1742P; 11:107677631-107677631 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1058_1059delGT; p.C353fs*5; 11:107623057-107623058 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5041A>G; p.I1681V; 11:107675686-107675686 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5044G>T; p.D1682Y; 11:107675689-107675689 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2928_2929ins9; p.V976_C977ins3; 11:107647194-107647195 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5041A>G; p.I1681V; 11:107675686-107675686 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5044G>T; p.D1682Y; 11:107675689-107675689 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2928_2929ins9; p.V976_C977ins3; 11:107647194-107647195 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8600G>A; p.G2867E; 11:107723231-107723231 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8600G>A; p.G2867E; 11:107723231-107723231 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8839A>T; p.T2947S; 11:107730800-107730800 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8839A>T; p.T2947S; 11:107730800-107730800 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1009C>A; p.R337S; 11:107623008-107623008 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1009C>A; p.R337S; 11:107623008-107623008 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5821G>C; p.V1941L; 11:107686155-107686155 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7313C>A; p.T2438K; 11:107706156-107706156 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8833_8866del34; p.L2945fs*7; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2308G>T; p.E770*; 11:107633475-107633475 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7047C>G; p.C2349W; 11:107703653-107703653 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6815delA; p.R2273fs*37; 11:107702002-107702002 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9022C>T; p.R3008C; 11:107741296-107741296 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5290delC; p.L1764fs*12; 11:107677697-107677697 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5980A>G; p.K1994E; 11:107688409-107688409 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5228C>T; p.T1743I; 11:107677635-107677635 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5821G>C; p.V1941L; 11:107686155-107686155 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3383A>G; p.Q1128R; 11:107655526-107655526 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3964C>A; p.L1322I; 11:107660381-107660381 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2639-10T>G; p.?; 11:107644337-107644337 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5882A>G; p.Y1961C; 11:107686216-107686216 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6046G>T; p.D2016Y; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.9023G>A; p.R3008H; 11:107741297-107741297 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4138C>T; p.H1380Y; 11:107664942-107664942 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1810C>T; p.P604S; 11:107628761-107628761 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.9152G>T; p.G3051V; 11:107741426-107741426 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2988T>G; p.H996Q; 11:107647254-107647254 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4220T>G; p.I1407S; 11:107665024-107665024 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.7777C>T; p.Q2593*; 11:107707963-107707963 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1396C>T; p.Q466*; 11:107626798-107626798 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.6188G>A; p.G2063E; 11:107692040-107692040 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.7848G>T; p.M2616I; 11:107708758-107708758 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma |
c.6067G>A; p.G2023R; 11:107691820-107691820 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma |
c.1709T>C; p.F570S; 11:107627875-107627875 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia |
c.5963G>T; p.S1988I; |
thyroid | carcinoma; medullary_carcinoma |
c.7328G>A; p.R2443Q; 11:107706171-107706171 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.3625_3626delTT; p.F1209fs*19; 11:107658695-107658696 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1363G>A; p.V455M; |
lung | carcinoma; squamous_cell_carcinoma |
c.7181C>T; p.S2394L; 11:107705049-107705049 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.6096-1G>C; p.?; 11:107691947-107691947 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.6920T>G; p.L2307R; |
lung | carcinoma; small_cell_carcinoma |
c.5497-31A>G; p.?; 11:107680581-107680581 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I |
c.8096C>G; p.P2699R; 11:107710991-107710991 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8774G>A; p.G2925D; 11:107729805-107729805 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.3706_3709delTTTA; p.I1237fs*2; 11:107658776-107658779 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8150A>T; p.K2717M; 11:107711045-107711045 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1564_1565delGA; p.E522fs*43; 11:107626966-107626967 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.2119T>C; p.S707P; 11:107629971-107629971 |
breast | carcinoma |
c.2119T>C; p.S707P; 11:107629971-107629971 |
breast | carcinoma |
c.5557G>A; p.D1853N; 11:107680672-107680672 |
breast | carcinoma |
c.5557G>A; p.D1853N; 11:107680672-107680672 |
breast | carcinoma |
c.5557G>A; p.D1853N; 11:107680672-107680672 |
breast | carcinoma |
c.5557G>A; p.D1853N; 11:107680672-107680672 |
breast | carcinoma |
c.5557G>A; p.D1853N; 11:107680672-107680672 |
breast | carcinoma |
c.5557G>A; p.D1853N; 11:107680672-107680672 |
breast | carcinoma |
c.5557G>A; p.D1853N; 11:107680672-107680672 |
breast | carcinoma |
c.5557G>A; p.D1853N; 11:107680672-107680672 |
breast | carcinoma |
c.5557G>A; p.D1853N; 11:107680672-107680672 |
breast | carcinoma |
c.7877C>T; p.A2626V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7877C>T; p.A2626V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1_9171del9171; p.0?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1435G>T; p.D479Y; 11:107626837-107626837 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1435G>T; p.D479Y; 11:107626837-107626837 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1435G>T; p.D479Y; 11:107626837-107626837 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2476A>C; p.I826L; 11:107643117-107643117 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2501_2502insA; p.V835fs*7; 11:107643142-107643143 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.4109+5G>A; p.?; 11:107663657-107663657 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8095C>T; p.P2699S; 11:107710990-107710990 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6070G>A; p.G2024R; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.2494C>T; p.R832C; 11:107643135-107643135 |
pancreas | carcinoid-endocrine_tumour |
c.6050G>T; p.S2017I; 11:107691803-107691803 |
pancreas | carcinoid-endocrine_tumour |
c.?; p.P604S; |
central_nervous_system; brainstem | glioma |
c.1009C>T; p.R337C; 11:107623008-107623008 |
breast | carcinoma |
c.7250T>C; p.L2417P; 11:107705118-107705118 |
lung | carcinoma; adenocarcinoma |
c.2241G>C; p.Q747H; 11:107632268-107632268 |
lung | carcinoma; adenocarcinoma |
c.8122G>A; p.D2708N; 11:107711017-107711017 |
lung | carcinoma; adenocarcinoma |
c.3257G>T; p.R1086L; 11:107648762-107648762 |
lung | carcinoma; adenocarcinoma |
c.7325A>C; p.Q2442P; 11:107706168-107706168 |
lung | carcinoma; adenocarcinoma |
c.7358G>C; p.R2453P; 11:107706201-107706201 |
lung | carcinoma; adenocarcinoma |
c.5714C>T; p.S1905L; 11:107683873-107683873 |
lung | carcinoma; adenocarcinoma |
c.3965T>C; p.L1322P; 11:107660382-107660382 |
lung | carcinoma; adenocarcinoma |
c.8616T>A; p.H2872Q; 11:107723247-107723247 |
lung | carcinoma; adenocarcinoma |
c.5486delC; p.P1829fs*5; 11:107678956-107678956 |
lung | carcinoma; adenocarcinoma |
c.2558C>A; p.S853*; 11:107643199-107643199 |
lung | carcinoma; adenocarcinoma |
c.7124G>T; p.S2375I; 11:107704992-107704992 |
lung | carcinoma; adenocarcinoma |
c.8395_8404del10; p.F2799fs*4; 11:107719285-107719294 |
lung | carcinoma; adenocarcinoma |
c.7184A>T; p.D2395V; 11:107705052-107705052 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7213A>T; p.M2405L; 11:107705081-107705081 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5178-1G>T; p.?; 11:107677584-107677584 |
lung | carcinoma; adenocarcinoma |
c.217_218delGA; p.E73fs*26; 11:107605146-107605147 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8494C>T; p.R2832C; 11:107721755-107721755 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.617delA; p.N206fs*24; 11:107620010-107620010 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1006_1020del15; p.F336_A340delFRNIA; 11:107623005-107623019 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7570G>A; p.A2524T; 11:107707435-107707435 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1048G>A; p.A350T; 11:107623047-107623047 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1229T>C; p.V410A; 11:107625033-107625033 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2193delC; p.Y731fs*1; 11:107632220-107632220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.4095_4109+4del19; p.?; 11:107663638-107663652 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5857A>G; p.T1953A; 11:107686191-107686191 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7390T>C; p.C2464R; 11:107706233-107706233 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7438C>T; p.H2480Y; 11:107706281-107706281 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7474C>T; p.L2492F; 11:107706317-107706317 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8095C>T; p.P2699S; 11:107710990-107710990 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8266A>T; p.K2756*; 11:107711896-107711896 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8428_8450del23; p.K2810fs*1; 11:107721689-107721711 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8663T>C; p.I2888T; 11:107723294-107723294 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8668C>G; p.L2890V; 11:107723299-107723299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8965C>T; p.Q2989*; 11:107741133-107741133 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9032T>A; p.M3011K; 11:107741306-107741306 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.478_482delTCTCA; p.S160fs*23; 11:107611753-107611757 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1066-6T>G; p.?; 11:107624864-107624864 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1402_1403delAA; p.K468fs*18; 11:107626804-107626805 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1402_1403delAA; p.K468fs*18; 11:107626804-107626805 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2720_2723delGTGT; p.C907fs*1; 11:107644428-107644431 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3712_3716delTTATT; p.L1238fs*6; 11:107658782-107658786 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3720_3736del17; p.N1240fs*4; 11:107658790-107658806 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5006-2A>G; p.?; 11:107675649-107675649 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6067G>A; p.G2023R; 11:107691820-107691820 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6374_6375insT; p.E2126fs*1; 11:107695917-107695918 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6989_6995delTAAAACT; p.K2331fs*6; 11:107703595-107703601 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7327C>G; p.R2443G; 11:107706170-107706170 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7638_7646delTAGAATTTC; p.R2547_S2549delRIS; 11:107707824-107707832 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8249T>C; p.L2750S; 11:107711879-107711879 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8672G>A; p.G2891D; 11:107729703-107729703 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9139C>T; p.R3047*; 11:107741413-107741413 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9040C>T; p.Q3014*; 11:107741314-107741314 |
lung; left_upper_lobe | carcinoma; adenocarcinoma |
c.875C>G; p.P292R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7375C>T; p.R2459C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.902-1G>T; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2950C>G; p.Q984E; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3075T>G; p.F1025L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3250C>T; p.Q1084*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5789A>T; p.D1930V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6101G>C; p.R2034P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6559G>T; p.E2187*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7280T>C; p.L2427P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8194T>G; p.F2732V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9023G>A; p.R3008H; 11:107741297-107741297 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8668C>G; p.L2890V; 11:107723299-107723299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9023G>A; p.R3008H; 11:107741297-107741297 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9022C>T; p.R3008C; 11:107741296-107741296 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3_21del19; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2329_2332delAGAA; p.R777fs*2; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.877A>T; p.K293*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1402_1403delAA; p.K468fs*18; 11:107626804-107626805 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3802_3802delG; p.V1268fs*1; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5748_5750delGAG; p.M1916_R1917>I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7996A>G; p.T2666A; 11:107709891-107709891 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5044G>C; p.D1682H; 11:107675689-107675689 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6185C>T; p.A2062V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7089+1delG; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7515+1_7515+2delGC; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.?; p.R2443*; |
ovary | carcinoma; clear_cell_carcinoma |
c.?; p.Q201*; |
lung | carcinoma; adenocarcinoma |
c.?; p.Q201*; |
lung | carcinoma; adenocarcinoma |
c.?; p.Q201*; |
lung | carcinoma; adenocarcinoma |
c.5353C>T; p.P1785S; |
NS | malignant_melanoma |
c.5353C>T; p.P1785S; |
NS | malignant_melanoma |
c.6975+5_6975+6insT; p.?; |
NS | malignant_melanoma |
c.9023G>A; p.R3008H; 11:107741297-107741297 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.?; p.D588Y; |
lung | carcinoma; adenocarcinoma |
c.?; p.C2021Y; |
lung | carcinoma; acinar_adenocarcinoma |
c.?; p.D2721N; |
lung | carcinoma; bronchioloalveolar_adenocarcinoma |
c.?; p.L2890P; |
lung | carcinoma; acinar_adenocarcinoma |
c.?; p.L243S; |
breast | carcinoma; ductal_carcinoma |
c.?; p.L243S; |
breast | carcinoma; ductal_carcinoma |
c.2554C>T; p.Q852*; |
NS | NS |
c.5639_5640insG; p.S1881fs*23; |
NS | NS |
c.7468C>T; p.L2490F; 11:107706311-107706311 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5639_5640insG; p.S1881fs*23; |
NS | malignant_melanoma |
c.38G>A; p.R13H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4334T>G; p.F1445C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6371A>G; p.Y2124C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7210T>G; p.Y2404D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2743A>G; p.T915A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8287C>T; p.R2763*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.743G>T; p.R248L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2930G>A; p.C977Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4397G>A; p.R1466Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.71A>C; p.K24T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3993+2T>C; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6889C>T; p.Q2297*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8624A>G; p.N2875S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2201T>C; p.V734A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1346G>T; p.G449V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1055T>A; p.I352N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2413C>T; p.R805*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5476T>G; p.L1826V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6247G>T; p.G2083*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5188C>T; p.R1730*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4610A>T; p.Q1537L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8174A>T; p.D2725V; 11:107711804-107711804 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6215G>A; p.G2072E; |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma |
c.6679C>T; p.R2227C; |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma |
c.6463G>A; p.V2155M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma |
c.1A>T; p.M1L; 11:107603562-107603562 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8668C>G; p.L2890V; 11:107723299-107723299 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.9050T>C; p.L3017P; 11:107741324-107741324 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1010G>A; p.R337H; 11:107623009-107623009 |
stomach | carcinoma; intestinal_adenocarcinoma |
c.7308A>C; p.R2436S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.73_76delAAAG; p.E26fs*7; 11:107603713-107603716 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1898+2T>A; p.?; |
pancreas | carcinoma |
c.3324delG; p.A1110fs*4; |
pancreas | carcinoma |
c.5152C>G; p.L1718V; |
pancreas | carcinoma |
c.5122delC; p.L1708fs*6; 11:107675767-107675767 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.428A>G; p.N143S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.6011T>G; p.L2004R; 11:107691764-107691764 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.4834_4858>T; p.E1612_Q1620>*; 11:107670921-107670945 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.9017C>T; p.A3006V; 11:107741291-107741291 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6056A>C; p.Y2019S; 11:107691809-107691809 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.2077_2098>G; p.C693_Q700>E; 11:107629929-107629950 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8674_8675insT; p.A2893fs*3; 11:107729705-107729706 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.3925G>A; p.A1309T; 11:107660342-107660342 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.2684delT; p.L895fs*4; 11:107644392-107644392 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8732_8734delCCA; p.T2911delT; 11:107729763-107729765 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.9139C>T; p.R3047*; 11:107741413-107741413 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7280T>G; p.L2427R; 11:107705148-107705148 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.620C>G; p.S207C; 11:107620013-107620013 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1179G>A; p.W393*; 11:107624983-107624983 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.5203_5210delACCTGTTT; p.T1735fs*11; 11:107677610-107677617 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.5047_5051delTTCTC; p.F1683fs*7; 11:107675692-107675696 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.9022C>T; p.R3008C; 11:107741296-107741296 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8451T>G; p.Y2817*; 11:107721712-107721712 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.484C>T; p.Q162*; 11:107611759-107611759 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8576C>T; p.S2859F; 11:107721837-107721837 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7196delA; p.R2400fs*6; 11:107705064-107705064 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1810C>T; p.P604S; 11:107628761-107628761 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8774G>T; p.G2925V; 11:107729805-107729805 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.3663G>A; p.W1221*; 11:107658733-107658733 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.3153+2T>A; p.?; 11:107648546-107648546 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7334T>C; p.L2445P; 11:107706177-107706177 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.2572T>C; p.F858L; 11:107643213-107643213 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4362A>C; p.K1454N; 11:107665664-107665664 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4424A>G; p.Y1475C; 11:107665726-107665726 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1562_1563delGA; p.E522fs*43; 11:107626964-107626965 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified |
c.3925G>A; p.A1309T; 11:107660342-107660342 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma |
c.2572T>C; p.F858L; 11:107643213-107643213 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.8837T>C; p.L2946S; |
pancreas | carcinoma; acinar_carcinoma |
c.872A>G; p.H291R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.2149C>T; p.R717W; 11:107632176-107632176 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; post_transplant_lymphoproliferative_disorder |
c.4801_4802insA; p.S1601fs*4; 11:107670888-107670889 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma |
c.4777-2A>T; p.?; |
liver | carcinoma |
c.3077+10G>T; p.?; |
liver | carcinoma |
c.5401A>T; p.N1801Y; 11:107678871-107678871 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1810C>T; p.P604S; 11:107628761-107628761 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4388T>C; p.F1463S; 11:107665690-107665690 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1810C>T; p.P604S; 11:107628761-107628761 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.8861A>G; p.Y2954C; 11:107741029-107741029 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6404delT; p.L2135fs*18; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6113A>G; p.H2038R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1637delT; p.L546fs*5; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1402_1403delAA; p.K468fs*18; 11:107626804-107626805 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7566A>T; p.Q2522H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8451T>G; p.Y2817*; 11:107721712-107721712 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5178-1G>T; p.?; 11:107677584-107677584 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6490G>C; p.E2164Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9016G>A; p.A3006T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.359T>G; p.L120R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7310A>C; p.Y2437S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.4755A>C; p.R1585S; |
pancreas | carcinoma; adenocarcinoma |
c.8842A>T; p.I2948F; |
breast | carcinoma; ductal_carcinoma |
c.3077+2T>C; p.?; 11:107647345-107647345 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.780_781insA; p.T261fs*10; 11:107620842-107620843 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7267G>A; p.E2423K; 11:107705135-107705135 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.378T>A; p.D126E; 11:107611653-107611653 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1229T>C; p.V410A; 11:107625033-107625033 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma |
c.3616T>G; p.L1206V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3646T>C; p.Y1216H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.8388C>T; p.F2796F; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.3182T>C; p.L1061P; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.3657G>A; p.L1219L; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.685C>T; p.L229L; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.8330G>A; p.G2777D; |
oesophagus | carcinoma; adenocarcinoma |
c.7516-1G>A; p.?; |
oesophagus | carcinoma; adenocarcinoma |
c.2467G>A; p.A823T; |
oesophagus | carcinoma; adenocarcinoma |
c.8494C>T; p.R2832C; 11:107721755-107721755 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; B_cell_lymphoma_unspecified |
c.3993G>T; p.Q1331H; |
lung | carcinoma; small_cell_carcinoma |
c.5993G>A; p.G1998E; |
lung | carcinoma; squamous_cell_carcinoma |
c.2987A>T; p.H996L; |
liver | carcinoma; hepatocellular_carcinoma |
c.8624A>C; p.N2875T; |
liver | carcinoma; hepatocellular_carcinoma |
c.8861A>G; p.Y2954C; 11:107741029-107741029 |
liver | carcinoma; hepatocellular_carcinoma |
c.1631_1632delTG; p.L544fs*21; |
liver | carcinoma; hepatocellular_carcinoma |
c.7325A>C; p.Q2442P; 11:107706168-107706168 |
liver | carcinoma; hepatocellular_carcinoma |
c.1026A>C; p.K342N; |
liver | carcinoma |
c.3628A>G; p.M1210V; |
liver | carcinoma |
c.8852T>A; p.V2951D; |
liver | carcinoma; hepatocellular_carcinoma |
c.829G>T; p.E277*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.748C>T; p.R250*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4315C>A; p.L1439I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.649A>G; p.I217V; |
liver | carcinoma |
c.1045A>G; p.M349V; |
liver | carcinoma |
c.4436+7A>C; p.?; |
liver | carcinoma |
c.8017C>T; p.H2673Y; |
liver | carcinoma |
c.8530A>G; p.I2844V; |
liver | carcinoma |
c.1416A>G; p.L472L; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.7247T>C; p.L2416P; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6374A>G; p.H2125R; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7328G>A; p.R2443Q; 11:107706171-107706171 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_II |
c.566G>A; p.R189K; |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_II |
c.8534_8535GG>AA; p.W2845*; 11:107721795-107721796 |
NS | malignant_melanoma |
c.1898+2T>A; p.?; |
pancreas | carcinoma; ductal_carcinoma |
c.5152C>G; p.L1718V; |
pancreas | carcinoma; ductal_carcinoma |
c.3324delG; p.A1110fs*4; |
pancreas | carcinoma; ductal_carcinoma |
c.743G>A; p.R248Q; |
ovary | carcinoma |
c.4990delG; p.E1664fs*5; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8285A>G; p.Q2762R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7376G>C; p.R2459P; |
lung | carcinoma; adenocarcinoma |
c.7576A>G; p.R2526G; |
lung | carcinoma; adenocarcinoma |
c.9023G>T; p.R3008L; |
lung | carcinoma; adenocarcinoma |
c.3375G>A; p.L1125L; |
lung | carcinoma; adenocarcinoma |
c.1009C>T; p.R337C; 11:107623008-107623008 |
lung | carcinoma; adenocarcinoma |
c.2576A>T; p.N859I; |
lung | carcinoma; adenocarcinoma |
c.2872G>T; p.E958*; |
lung | carcinoma; adenocarcinoma |
c.170G>T; p.W57L; |
lung | carcinoma; adenocarcinoma |
c.5015G>T; p.G1672V; |
lung | carcinoma; adenocarcinoma |
c.140C>A; p.S47*; |
lung | carcinoma; adenocarcinoma |
c.7307+1G>A; p.?; |
lung | carcinoma; adenocarcinoma |
c.2815A>T; p.T939S; |
lung | carcinoma; adenocarcinoma |
c.5674G>T; p.E1892*; |
lung | carcinoma; adenocarcinoma |
c.6787A>T; p.R2263*; |
lung | carcinoma; adenocarcinoma |
c.8494C>A; p.R2832S; |
lung | carcinoma; adenocarcinoma |
c.7280T>G; p.L2427R; 11:107705148-107705148 |
lung | carcinoma; adenocarcinoma |
c.7295T>G; p.I2432S; |
lung | carcinoma; adenocarcinoma |
c.835_836delAT; p.I279fs*2; |
lung | carcinoma; adenocarcinoma |
c.4988G>T; p.G1663V; |
lung | carcinoma; adenocarcinoma |
c.8011-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.3546G>T; p.E1182D; |
lung | carcinoma; adenocarcinoma |
c.3771A>T; p.P1257P; |
lung | carcinoma; adenocarcinoma |
c.7921C>T; p.Q2641*; |
lung | carcinoma; adenocarcinoma |
c.1235G>T; p.W412L; |
lung | carcinoma; adenocarcinoma |
c.923G>A; p.W308*; 11:107622922-107622922 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.5745C>A; p.Y1915*; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.8851G>T; p.V2951F; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.6374A>G; p.H2125R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7307+2T>C; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7247T>C; p.L2416P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.2465T>G; p.L822*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7343A>T; p.D2448V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1010G>C; p.R337P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.3901G>T; p.E1301*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8880G>T; p.W2960C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8095C>A; p.P2699T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6374A>G; p.H2125R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6490G>C; p.E2164Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7466C>T; p.S2489F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8084G>C; p.G2695A; 11:107710979-107710979 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6934C>T; p.L2312F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8318_8335>A; p.T2773fs*4; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6978_6978delC; p.N2326fs*5; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1837G>T; p.V613L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.3314_3314delC; p.R1106fs*3; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.40C>T; p.Q14*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.5249G>A; p.W1750*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.9016G>A; p.A3006T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.4436+1G>A; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.9023G>A; p.R3008H; 11:107741297-107741297 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.3077G>C; p.W1026S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6041A>G; p.E2014G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.680_680delC; p.S227fs*1; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6041A>G; p.E2014G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.2209_2209delG; p.E737fs*16; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.5320-2A>T; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.968T>G; p.I323R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6146_6146delA; p.Y2049fs*33; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.707T>G; p.L236R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.968T>G; p.I323R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.5932G>T; p.E1978*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6776C>A; p.S2259Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.5130G>A; p.W1710*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1179_1185delGGAAGTA; p.W393fs*1; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8265T>A; p.Y2755*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6200C>A; p.A2067D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7464T>A; p.C2488*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.9023G>A; p.R3008H; 11:107741297-107741297 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6055T>A; p.Y2019N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8497_8498insA; p.Y2833fs*1; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8525C>T; p.P2842L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.4341_4341delT; p.L1448fs*3; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1671_1672GG>C; p.M557fs*3; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6056A>G; p.Y2019C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8668C>G; p.L2890V; 11:107723299-107723299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.128T>C; p.L43P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.4883T>A; p.M1628K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.3677A>G; p.D1226G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6095+2T>A; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8680T>G; p.F2894V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.7342G>A; p.D2448N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.2466+4A>C; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.5831T>A; p.V1944E; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6572_6572delG; p.R2191fs*44; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.3078G>A; p.W1026*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8987+2T>G; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.1000_1001insA; p.S334fs*5; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.3994_4109+3del; p.I1332fs*7; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8494C>T; p.R2832C; 11:107721755-107721755 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.6902_6903insA; p.E2304fs*69; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.779C>T; p.P260L; |
skin; extremity | malignant_melanoma |
c.1270C>T; p.P424S; |
skin; extremity | malignant_melanoma |
c.6494C>T; p.S2165F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.9023G>A; p.R3008H; 11:107741297-107741297 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.8663T>C; p.I2888T; 11:107723294-107723294 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6227T>G; p.I2076S; 11:107693338-107693338 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6957G>A; p.L2319L; |
autonomic_ganglia | neuroblastoma |
c.7342G>T; p.D2448Y; |
autonomic_ganglia | neuroblastoma |
c.6821C>T; p.A2274V; |
autonomic_ganglia | neuroblastoma |
c.7996A>G; p.T2666A; 11:107709891-107709891 |
lung | carcinoma; non_small_cell_carcinoma |
c.7996A>G; p.T2666A; 11:107709891-107709891 |
lung | carcinoma; non_small_cell_carcinoma |
c.5380C>T; p.L1794L; 11:107678850-107678850 |
lung | carcinoma; non_small_cell_carcinoma |
c.5380C>T; p.L1794L; 11:107678850-107678850 |
lung | carcinoma; non_small_cell_carcinoma |
c.2542G>C; p.E848Q; 11:107643183-107643183 |
lung | carcinoma; non_small_cell_carcinoma |
c.2542G>C; p.E848Q; 11:107643183-107643183 |
lung | carcinoma; non_small_cell_carcinoma |
c.3118A>G; p.M1040V; 11:107648509-107648509 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4387T>C; p.F1463L; 11:107665689-107665689 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.8608G>T; p.D2870Y; |
prostate | carcinoma |
c.2075G>A; p.R692H; |
pancreas | carcinoma; ductal_carcinoma |
c.9108A>T; p.I3036I; |
pancreas | carcinoma; ductal_carcinoma |
c.9023G>A; p.R3008H; 11:107741297-107741297 |
pancreas | carcinoma; ductal_carcinoma |
c.1010G>A; p.R337H; 11:107623009-107623009 |
pancreas | carcinoma; ductal_carcinoma |
c.2805G>A; p.T935T; 11:107644513-107644513 |
breast | carcinoma; lobular_carcinoma |
c.5748G>C; p.M1916I; 11:107683907-107683907 |
breast | carcinoma; lobular_carcinoma |
c.6154G>T; p.E2052*; 11:107692006-107692006 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma |
c.8525C>G; p.P2842R; 11:107721786-107721786 |
lung | carcinoma; adenocarcinoma |
c.1672G>T; p.G558*; 11:107627838-107627838 |
lung | carcinoma; large_cell_carcinoma |
c.7325A>C; p.Q2442P; 11:107706168-107706168 |
lung | carcinoma; adenocarcinoma |
c.3536C>T; p.S1179F; 11:107657065-107657065 |
stomach | carcinoma; adenocarcinoma |
c.7328G>A; p.R2443Q; 11:107706171-107706171 |
large_intestine | carcinoma; adenocarcinoma |
c.7328G>A; p.R2443Q; 11:107706171-107706171 |
large_intestine | carcinoma; adenocarcinoma |
c.7223C>T; p.S2408L; 11:107705091-107705091 |
large_intestine | carcinoma; adenocarcinoma |
c.4407T>G; p.I1469M; 11:107665709-107665709 |
kidney | carcinoma; papillary_renal_cell_carcinoma |
c.1619G>A; p.C540Y; 11:107627785-107627785 |
large_intestine | carcinoma; adenocarcinoma |
c.1010G>A; p.R337H; 11:107623009-107623009 |
large_intestine | carcinoma; adenocarcinoma |
c.5833G>A; p.A1945T; 11:107686167-107686167 |
large_intestine | carcinoma; adenocarcinoma |
c.68G>A; p.R23Q; 11:107603629-107603629 |
large_intestine | carcinoma; adenocarcinoma |
c.5216A>C; p.N1739T; 11:107677623-107677623 |
large_intestine | carcinoma; adenocarcinoma |
c.1009C>T; p.R337C; 11:107623008-107623008 |
large_intestine | carcinoma; adenocarcinoma |
c.5973A>C; p.E1991D; 11:107688402-107688402 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7066A>T; p.I2356F; 11:107703672-107703672 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.451delT; p.S151fs*2; 11:107611726-107611726 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1009C>T; p.R337C; 11:107623008-107623008 |
NS | NS |
c.1009C>T; p.R337C; 11:107623008-107623008 |
upper_aerodigestive_tract; lymph_node | carcinoma; adenoid_cystic_carcinoma |
c.5815C>G; p.L1939V; 11:107686149-107686149 |
kidney | carcinoma |
c.1761T>C; p.G587G; |
breast | carcinoma |
c.8663T>C; p.I2888T; 11:107723294-107723294 |
breast | carcinoma |
c.8494C>T; p.R2832C; 11:107721755-107721755 |
NS | NS |
c.6453-1G>C; p.?; |
NS | NS |
c.5421G>A; p.K1807K; |
NS | NS |
c.3799G>A; p.E1267K; |
breast | carcinoma; HER-positive_carcinoma |
c.9022C>A; p.R3008S; |
central_nervous_system; posterior_fossa | glioma; astrocytoma_Grade_IV |
c.8486C>T; p.P2829L; |
prostate | carcinoma |
c.7515delG; p.R2506fs*4; |
prostate | carcinoma |
c.7327C>T; p.R2443*; 11:107706170-107706170 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.2987A>T; p.H996L; |
liver | carcinoma |
c.8624A>C; p.N2875T; |
liver | carcinoma |
c.8861A>G; p.Y2954C; 11:107741029-107741029 |
liver | carcinoma |
c.1631_1632delTG; p.L544fs*21; |
liver | carcinoma |
c.7325A>C; p.Q2442P; 11:107706168-107706168 |
liver | carcinoma |
c.5600A>C; p.Q1867P; |
lung | carcinoma; small_cell_carcinoma |
c.1537C>T; p.Q513*; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.?; p.N429fs*7; |
lung | carcinoma; non_small_cell_carcinoma |
c.?; p.R1875*; |
large_intestine | carcinoma; adenocarcinoma |
c.?; p.V997fs*1; |
lung | carcinoma; non_small_cell_carcinoma |
c.?; p.K2811fs*46; |
large_intestine | carcinoma; adenocarcinoma |
c.2444T>A; p.I815N; |
prostate | adenoma |
c.503_508delTCTCTG; p.F168_V170>L; 11:107619896-107619901 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.6374A>G; p.H2125R; |
prostate | carcinoma |
c.8071C>T; p.R2691C; |
endometrium | carcinoma; serous_carcinoma |
c.3012_3014delCAA; p.N1005delN; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3012_3014delCAA; p.N1005delN; |
kidney | carcinoma; renal_cell_carcinoma |
c.1634C>A; p.A545E; |
endometrium | carcinoma; serous_carcinoma |
c.412G>A; p.G138R; 11:107611687-107611687 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.412G>A; p.G138R; 11:107611687-107611687 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.734T>C; p.V245A; 11:107620796-107620796 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.734T>C; p.V245A; 11:107620796-107620796 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.632A>G; p.D211G; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.8735G>A; p.R2912K; 11:107729766-107729766 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.8735G>A; p.R2912K; 11:107729766-107729766 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.7237A>C; p.K2413Q; |
lung | carcinoma; adenocarcinoma |
c.8083G>A; p.G2695S; |
lung | carcinoma; adenocarcinoma |
c.5935G>T; p.E1979*; |
lung | carcinoma; adenocarcinoma |
c.7993_7994CC>AA; p.P2665N; |
lung | carcinoma; adenocarcinoma |
c.8669T>G; p.L2890R; |
lung | carcinoma; adenocarcinoma |
c.4451T>G; p.M1484R; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2376+2T>C; p.?; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3622G>C; p.D1208H; 11:107658692-107658692 |
ovary | carcinoma; serous_carcinoma |
c.8861A>G; p.Y2954C; 11:107741029-107741029 |
ovary | carcinoma; serous_carcinoma |
c.5612C>T; p.T1871I; |
lung | carcinoma; squamous_cell_carcinoma |
c.5025G>T; p.L1675F; |
lung | carcinoma; squamous_cell_carcinoma |
c.73-1G>A; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.4416G>T; p.L1472F; 11:107665718-107665718 |
ovary | carcinoma; serous_carcinoma |
c.7519G>A; p.D2507N; |
ovary | carcinoma; serous_carcinoma |
c.728T>C; p.L243S; |
ovary | carcinoma; serous_carcinoma |
c.7240C>T; p.Q2414*; 11:107705108-107705108 |
ovary | carcinoma; serous_carcinoma |
c.1351C>T; p.R451C; |
ovary | carcinoma; serous_carcinoma |
c.5783T>G; p.F1928C; |
ovary | carcinoma; serous_carcinoma |
c.4987G>T; p.G1663C; |
lung | carcinoma; squamous_cell_carcinoma |
c.4142T>G; p.F1381C; |
lung | carcinoma; adenocarcinoma |
c.8158G>C; p.D2720H; |
lung | carcinoma; adenocarcinoma |
c.9043G>T; p.E3015*; |
lung | carcinoma; adenocarcinoma |
c.8631G>A; p.L2877L; |
lung | carcinoma; adenocarcinoma |
c.1688T>C; p.M563T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4460C>A; p.S1487*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.883G>C; p.A295P; |
lung | carcinoma; adenocarcinoma |
c.6128G>T; p.G2043V; |
lung | carcinoma; adenocarcinoma |
c.1882C>T; p.Q628*; |
lung | carcinoma; adenocarcinoma |
c.8083G>T; p.G2695C; |
lung | carcinoma; adenocarcinoma |
c.1065+1G>C; p.?; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2308G>T; p.E770*; 11:107633475-107633475 |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.8959G>T; p.D2987Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.5749_5762+7del21; p.?; |
ovary | carcinoma; serous_carcinoma |
c.2692T>G; p.L898V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3586A>T; p.K1196*; |
lung | carcinoma; adenocarcinoma |
c.2521G>T; p.D841Y; |
lung | carcinoma; adenocarcinoma |
c.8689G>A; p.G2897S; |
lung | carcinoma; squamous_cell_carcinoma |
c.3967A>G; p.K1323E; |
lung | carcinoma; squamous_cell_carcinoma |
c.1216G>A; p.D406N; |
lung | carcinoma; squamous_cell_carcinoma |
c.9023G>A; p.R3008H; 11:107741297-107741297 |
lung | carcinoma; adenocarcinoma |
c.5925T>A; p.L1975L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7330G>A; p.E2444K; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.742C>T; p.R248*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3154-1G>T; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4309A>T; p.R1437*; |
lung | carcinoma; adenocarcinoma |
c.8875G>C; p.D2959H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.9156G>C; p.W3052C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8144T>G; p.L2715R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1280T>A; p.L427*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.9139C>T; p.R3047*; 11:107741413-107741413 |
breast | carcinoma |
c.7365G>A; p.L2455L; |
breast | carcinoma |
c.8158G>A; p.D2720N; |
breast | carcinoma |
c.6007-2A>G; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5347G>T; p.E1783*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6417A>C; p.E2139D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8049A>G; p.I2683M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8775T>C; p.G2925G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2122G>T; p.E708*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6789A>G; p.R2263R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7326G>T; p.Q2442H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7328G>T; p.R2443L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3119T>C; p.M1040T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5972A>G; p.E1991G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2309A>G; p.E770G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6031A>G; p.S2011G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7241A>G; p.Q2414R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1010G>A; p.R337H; 11:107623009-107623009 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.414A>G; p.G138G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8494C>T; p.R2832C; 11:107721755-107721755 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7188T>C; p.T2396T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3072_3073insT; p.W1026fs*22; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7182A>G; p.S2394S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.414A>G; p.G138G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5918G>T; p.R1973I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2610C>T; p.N870N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3506delA; p.K1170fs*11; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8228C>T; p.T2743M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1134T>G; p.S378R; |
breast | carcinoma |
c.6490G>A; p.E2164K; 11:107697275-107697275 |
breast | carcinoma |
c.2387A>C; p.N796T; |
breast | carcinoma |
c.4722_4723delGC; p.R1575fs*10; |
breast | carcinoma |
c.4724G>T; p.R1575L; |
breast | carcinoma |
c.179delT; p.F61fs*15; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1811C>A; p.P604H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8084G>A; p.G2695D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1009C>T; p.R337C; 11:107623008-107623008 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2944C>T; p.R982C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7269A>G; p.E2423E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9054A>G; p.K3018K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1709T>C; p.F570S; 11:107627875-107627875 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8312C>T; p.T2771I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1841G>A; p.S614N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6115G>A; p.E2039K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3350A>C; p.Q1117P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4466G>A; p.R1489H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8517C>A; p.F2839L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5216A>G; p.N1739S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7182A>G; p.S2394S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1229T>C; p.V410A; 11:107625033-107625033 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2542G>A; p.E848K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7180T>C; p.S2394P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.179delT; p.F61fs*15; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8307G>A; p.W2769*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8079_8081delAGG; p.G2695delG; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7273delG; p.G2425fs*15; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1495C>G; p.Q499E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5981A>G; p.K1994R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2759C>T; p.A920V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1396C>A; p.Q466K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5509delT; p.C1838fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7305C>G; p.N2435K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5464G>T; p.E1822*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6011T>C; p.L2004P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9022C>T; p.R3008C; 11:107741296-107741296 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6179G>A; p.R2060H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2464T>G; p.L822V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8026G>T; p.E2676*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7793G>A; p.R2598Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5188C>T; p.R1730*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1431G>T; p.K477N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6229C>A; p.L2077I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.748C>T; p.R250*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4996G>T; p.E1666*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6418T>G; p.F2140V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7057C>A; p.P2353T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8615A>G; p.H2872R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3070G>A; p.A1024T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6114C>T; p.H2038H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8161G>A; p.D2721N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3622G>T; p.D1208Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5042T>C; p.I1681T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6689delT; p.L2231fs*4; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7270G>T; p.V2424L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1708T>C; p.F570L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6228T>C; p.I2076I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7778A>G; p.Q2593R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8762C>T; p.T2921M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8450A>G; p.Y2817C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.414A>G; p.G138G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5170G>C; p.E1724Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9022C>A; p.R3008S; |
large_intestine; rectum | NS |
c.2803A>G; p.T935A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8671G>C; p.G2891R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.748C>T; p.R250*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.923G>A; p.W308*; 11:107622922-107622922 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.486A>G; p.Q162Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2987A>G; p.H996R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7778A>G; p.Q2593R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6115G>A; p.E2039K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5044G>T; p.D1682Y; 11:107675689-107675689 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3504C>T; p.C1168C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7669T>G; p.L2557V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2824C>A; p.L942I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3649C>A; p.L1217M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4396C>T; p.R1466*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6751C>A; p.L2251I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5188C>T; p.R1730*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3449G>T; p.R1150I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4464A>G; p.L1488L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6439C>A; p.L2147I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4222C>A; p.L1408I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2150G>T; p.R717L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8496T>C; p.R2832R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2T>C; p.M1T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8977C>T; p.R2993*; |
breast | carcinoma |
c.407delT; p.Y137fs*16; |
breast | carcinoma |
c.4419_4436+10del28; p.?; |
breast | carcinoma |
c.2156C>A; p.S719*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5286C>A; p.A1762A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.743G>A; p.R248Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1100C>T; p.S367F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3732T>C; p.I1244I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3867G>T; p.K1289N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8071C>T; p.R2691C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8338C>A; p.L2780I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.238C>T; p.P80S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.299T>G; p.L100W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1564G>T; p.E522*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3137T>G; p.L1046R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5823T>C; p.V1941V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8164C>A; p.L2722M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4845G>T; p.K1615N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.775C>A; p.L259I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1051G>T; p.D351Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6185C>T; p.A2062V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8558C>T; p.T2853M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6805C>T; p.Q2269*; |
breast | carcinoma |
c.5746A>G; p.M1916V; |
large_intestine | carcinoma; adenocarcinoma |
c.8736A>G; p.R2912R; |
large_intestine | carcinoma; adenocarcinoma |
c.7223C>A; p.S2408*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7324C>T; p.Q2442*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.748C>T; p.R250*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7792C>T; p.R2598*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1078G>T; p.D360Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1461T>G; p.I487M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6419T>G; p.F2140C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8977C>T; p.R2993*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.950A>G; p.D317G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8545C>T; p.R2849*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7269A>G; p.E2423E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7182A>G; p.S2394S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9023G>A; p.R3008H; 11:107741297-107741297 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4425T>A; p.Y1475*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7180T>C; p.S2394P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7251G>A; p.L2417L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7314A>G; p.T2438T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7456C>T; p.R2486*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.996T>C; p.Y332Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.662+2T>C; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1477C>T; p.R493C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5623C>T; p.R1875*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3741C>A; p.F1247L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8775T>C; p.G2925G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1229T>C; p.V410A; 11:107625033-107625033 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2240A>G; p.Q747R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5981A>G; p.K1994R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9153A>G; p.G3051G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.634delT; p.S214fs*16; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6490G>T; p.E2164*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7357C>T; p.R2453C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.734T>C; p.V245A; 11:107620796-107620796 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2150G>T; p.R717L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4834G>A; p.E1612K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5216A>G; p.N1739S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5227A>G; p.T1743A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7325A>G; p.Q2442R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.412G>A; p.G138R; 11:107611687-107611687 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1708T>C; p.F570L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5972A>G; p.E1991G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7280T>C; p.L2427P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1674A>G; p.G558G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5982A>G; p.K1994K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1673G>A; p.G558E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5217C>T; p.N1739N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7738A>T; p.R2580*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.748C>T; p.R250*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2245G>A; p.A749T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7089G>T; p.K2363N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.748C>T; p.R250*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8435C>A; p.S2812Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1168G>T; p.E390*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1891C>T; p.P631S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5133C>T; p.T1711T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6100C>T; p.R2034*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7681C>A; p.L2561M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3994-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6318T>A; p.N2106K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.810G>A; p.R270R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8079_8081delAGG; p.G2695delG; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7328G>A; p.R2443Q; 11:107706171-107706171 |
breast | carcinoma |
c.6096-1G>A; p.?; |
breast | carcinoma |
c.6791C>T; p.T2264I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.9139C>T; p.R3047*; 11:107741413-107741413 |
endometrium | carcinoma; endometrioid_carcinoma |
c.5834_5835delCT; p.Q1946fs*18; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5497-1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9010A>G; p.K3004E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2864C>T; p.P955L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2921+1G>A; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8596C>A; p.L2866I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.392C>A; p.S131*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1708T>C; p.F570L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2932T>G; p.S978A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3741C>A; p.F1247L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5047T>G; p.F1683V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8164C>A; p.L2722M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.103C>T; p.R35*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2320G>T; p.G774C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4222C>A; p.L1408I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1444A>C; p.K482Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4315C>A; p.L1439I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8071C>T; p.R2691C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8457C>A; p.V2819V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4367G>A; p.G1456D; |
urinary_tract; bladder | carcinoma |
c.775C>T; p.L259F; |
urinary_tract; bladder | carcinoma |
c.472G>C; p.E158Q; |
urinary_tract; bladder | carcinoma |
c.1710T>C; p.F570F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.446_449delTTCT; p.S151fs*1; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7269A>G; p.E2423E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8577T>C; p.S2859S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7280T>C; p.L2427P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.279G>T; p.K93N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1834C>A; p.L612I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4852C>T; p.R1618*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1009C>T; p.R337C; 11:107623008-107623008 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5227A>G; p.T1743A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5859A>G; p.T1953T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8083G>A; p.G2695S; |
prostate | carcinoma; adenocarcinoma |
c.5015G>C; p.G1672A; |
prostate | carcinoma; adenocarcinoma |
c.5033T>G; p.V1678G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8981A>G; p.N2994S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7255A>T; p.R2419*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.414A>G; p.G138G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9089G>T; p.G3030V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5310A>G; p.S1770S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8862T>C; p.Y2954Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5714C>A; p.S1905*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8860T>C; p.Y2954H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3623A>G; p.D1208G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3966T>A; p.L1322L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3153+2T>C; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6069A>G; p.G2023G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7778A>G; p.Q2593R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7777C>A; p.Q2593K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7458A>G; p.R2486R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1875delT; p.F627fs*22; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4922_4923insT; p.G1642fs*23; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7180T>C; p.S2394P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7182A>T; p.S2394S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8435C>A; p.S2812Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3993G>A; p.Q1331Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7260C>A; p.A2420A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7268A>G; p.E2423G; 11:107705136-107705136 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2078G>A; p.C693Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2149C>T; p.R717W; 11:107632176-107632176 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3382C>T; p.Q1128*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5859A>G; p.T1953T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8450A>T; p.Y2817F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5714C>T; p.S1905L; 11:107683873-107683873 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3623A>G; p.D1208G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8123A>G; p.D2708G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6009T>A; p.D2003E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9024T>C; p.R3008R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7249C>A; p.L2417M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3662G>A; p.W1221*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3927A>G; p.A1309A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9151G>A; p.G3051R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4833T>C; p.L1611L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7188T>C; p.T2396T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9016G>T; p.A3006S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5883T>C; p.Y1961Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2151G>T; p.R717R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4389T>C; p.F1463F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5558A>G; p.D1853G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.69A>G; p.R23R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.485A>G; p.Q162R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1229T>A; p.V410E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3162T>C; p.P1054P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8451T>C; p.Y2817Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5713T>C; p.S1905P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7188T>C; p.T2396T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1618T>C; p.C540R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2987A>G; p.H996R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8670A>G; p.L2890L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7241A>G; p.Q2414R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8662A>T; p.I2888L; |
urinary_tract; bladder | carcinoma |
c.7480A>T; p.N2494Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1593C>T; p.A531A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4932G>A; p.M1644I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6412_6413delAG; p.E2139fs*6; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8248T>C; p.L2750L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8457C>T; p.V2819V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8054C>A; p.S2685*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7035A>C; p.L2345F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.68G>A; p.R23Q; 11:107603629-107603629 |
endometrium | carcinoma; endometrioid_carcinoma |
c.7222T>C; p.S2408P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8736A>G; p.R2912R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1708T>C; p.F570L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2934T>C; p.S978S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6491A>G; p.E2164G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7188T>C; p.T2396T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3536C>A; p.S1179Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5217C>T; p.N1739N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1177T>C; p.W393R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4407T>C; p.I1469I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4737A>C; p.Q1579H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5309C>A; p.S1770*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6154G>A; p.E2052K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7250T>A; p.L2417Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6055T>C; p.Y2019H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9140G>A; p.R3047Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5881T>A; p.Y1961N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1230G>A; p.V410V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2077T>C; p.C693R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7251G>A; p.L2417L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.488A>G; p.Q163R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2150G>A; p.R717Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7281T>A; p.L2427L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8173G>T; p.D2725Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8786+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3383A>G; p.Q1128R; 11:107655526-107655526 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2413C>T; p.R805*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4387T>C; p.F1463L; 11:107665689-107665689 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5981A>G; p.K1994R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8670A>G; p.L2890L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8775T>C; p.G2925G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8083G>T; p.G2695C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6100C>T; p.R2034*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5225C>T; p.A1742V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6011T>C; p.L2004P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6057T>C; p.Y2019Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7272A>G; p.V2424V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8670A>G; p.L2890L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7188T>C; p.T2396T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.875C>T; p.P292L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1924G>A; p.E642K; |
breast | carcinoma |
c.1296G>T; p.L432L; |
breast | carcinoma |
c.5857A>G; p.T1953A; 11:107686191-107686191 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1050A>G; p.A350A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7280T>C; p.L2427P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8095C>A; p.P2699T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1010G>A; p.R337H; 11:107623009-107623009 |
urinary_tract; bladder | carcinoma |
c.8443G>A; p.E2815K; |
urinary_tract; bladder | carcinoma |
c.9054A>G; p.K3018K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5227A>G; p.T1743A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1009C>T; p.R337C; 11:107623008-107623008 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8095C>A; p.P2699T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8736A>G; p.R2912R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7125T>C; p.S2375S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8496T>G; p.R2832R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4388T>C; p.F1463S; 11:107665690-107665690 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5972A>G; p.E1991G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7250T>C; p.L2417P; 11:107705118-107705118 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7123A>G; p.S2375G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8450A>G; p.Y2817C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1709T>C; p.F570S; 11:107627875-107627875 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4415T>C; p.L1472S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4835A>G; p.E1612G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7268A>G; p.E2423G; 11:107705136-107705136 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7250T>C; p.L2417P; 11:107705118-107705118 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1810C>A; p.P604T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4361A>G; p.K1454R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7249C>A; p.L2417M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9023G>A; p.R3008H; 11:107741297-107741297 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6228T>C; p.I2076I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7123A>G; p.S2375G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2988T>C; p.H996H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5044G>A; p.D1682N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3119T>C; p.M1040T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5077G>A; p.D1693N; |
breast | carcinoma |
c.8339T>G; p.L2780R; |
breast | carcinoma |
c.175G>T; p.A59S; |
breast | carcinoma |
c.5859A>G; p.T1953T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2803A>G; p.T935A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7324C>T; p.Q2442*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5558A>G; p.D1853G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5401A>G; p.N1801D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1708T>C; p.F570L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.9017C>T; p.A3006V; 11:107741291-107741291 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8854C>T; p.L2952F; |
prostate | carcinoma; adenocarcinoma |
c.6490G>A; p.E2164K; 11:107697275-107697275 |
prostate | carcinoma; adenocarcinoma |
c.5807T>C; p.L1936S; |
prostate | carcinoma; adenocarcinoma |
c.4703A>T; p.H1568L; |
prostate | carcinoma; adenocarcinoma |
c.8624A>G; p.N2875S; |
breast | carcinoma |
c.1011T>A; p.R337R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1230G>T; p.V410V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2945G>T; p.R982L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3119T>C; p.M1040T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4405A>G; p.I1469V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3661T>C; p.W1221R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2543A>G; p.E848G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4389T>C; p.F1463F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7327C>T; p.R2443*; 11:107706170-107706170 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5558A>G; p.D1853G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5982A>G; p.K1994K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7242A>G; p.Q2414Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7260C>A; p.A2420A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5746A>G; p.M1916V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2987A>G; p.H996R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1A>G; p.M1V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.9008A>G; p.N3003S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5815C>A; p.L1939I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6573-1G>A; p.?; |
urinary_tract; bladder | carcinoma |
c.2944C>T; p.R982C; |
urinary_tract; bladder | carcinoma |
c.9000G>C; p.Q3000H; |
urinary_tract; bladder | carcinoma |
c.9019G>A; p.E3007K; |
urinary_tract; bladder | carcinoma |
c.9064G>T; p.E3022*; |
urinary_tract; bladder | carcinoma |
c.9096G>A; p.V3032V; |
urinary_tract; bladder | carcinoma |
c.6154G>T; p.E2052*; 11:107692006-107692006 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2559A>G; p.S853S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1758G>T; p.E586D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8614C>T; p.H2872Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7182A>G; p.S2394S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8575T>C; p.S2859P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4425T>A; p.Y1475*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9018T>A; p.A3006A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9140G>A; p.R3047Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8668C>T; p.L2890L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9139C>T; p.R3047*; 11:107741413-107741413 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3258C>A; p.R1086R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1009C>T; p.R337C; 11:107623008-107623008 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5042T>C; p.I1681T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6011T>C; p.L2004P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6069A>G; p.G2023G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5816T>C; p.L1939P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7250T>C; p.L2417P; 11:107705118-107705118 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1674A>G; p.G558G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1710T>C; p.F570F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7188T>C; p.T2396T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7289A>G; p.H2430R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8426delA; p.K2811fs*46; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8494C>T; p.R2832C; 11:107721755-107721755 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.169T>C; p.W57R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2574T>C; p.F858F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4332_4333insT; p.V1446fs*2; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5873C>T; p.A1958V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7125T>C; p.S2375S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5823T>C; p.V1941V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8494C>T; p.R2832C; 11:107721755-107721755 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5762+1G>T; p.?; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6902_6903insA; p.E2304fs*69; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8810T>G; p.V2937G; |
prostate | carcinoma; adenocarcinoma |
c.8625T>A; p.N2875K; |
prostate | carcinoma; adenocarcinoma |
c.6280G>A; p.E2094K; |
urinary_tract; bladder | carcinoma |
c.5619T>C; p.C1873C; |
urinary_tract; bladder | carcinoma |
c.8613_8615delACA; p.R2871_H2872>S; 11:107723244-107723246 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.8084G>C; p.G2695A; 11:107710979-107710979 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.7325A>C; p.Q2442P; 11:107706168-107706168 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.5729T>A; p.L1910H; 11:107683888-107683888 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.8165T>G; p.L2722R; 11:107711795-107711795 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.8174A>T; p.D2725V; 11:107711804-107711804 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.5044G>C; p.D1682H; 11:107675689-107675689 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.7271T>G; p.V2424G; 11:107705139-107705139 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.4173_4174insC; p.Y1392fs*7; 11:107664977-107664978 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.7187C>G; p.T2396S; 11:107705055-107705055 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.6490G>A; p.E2164K; 11:107697275-107697275 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.7636_7644delTCTAGAATT; p.R2547_S2549delRIS; 11:107707822-107707830 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.8194T>C; p.F2732L; 11:107711824-107711824 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.4220T>C; p.I1407T; 11:107665024-107665024 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.2119_2123delTCTGA; p.S707fs*29; 11:107629971-107629975 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.8668C>G; p.L2890V; 11:107723299-107723299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.7879_7880insT; p.Y2627fs*29; 11:107708789-107708790 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.9139C>T; p.R3047*; 11:107741413-107741413 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.8430_8432delAAA; p.K2811delK; 11:107721691-107721693 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia |
c.171G>A; p.W57*; 11:107603811-107603811 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma |
c.2838+9C>T; p.?; |
prostate | carcinoma |
c.8555_8558delATAC; p.Y2852fs*4; |
prostate | carcinoma |
c.4400A>C; p.D1467A; |
prostate | carcinoma |
c.6031_6032delAG; p.S2011fs*6; |
prostate | carcinoma |
c.620C>T; p.S207F; |
skin | malignant_melanoma |
c.4129A>T; p.N1377Y; |
skin | malignant_melanoma |
c.1645A>G; p.S549G; |
skin | malignant_melanoma |
c.7162C>T; p.L2388F; |
skin | malignant_melanoma |
c.5546delT; p.L1850fs*67; |
skin | malignant_melanoma |
c.638T>C; p.F213S; |
skin | malignant_melanoma |
c.556T>A; p.L186I; |
skin; mucosal | malignant_melanoma |
c.5557G>A; p.D1853N; 11:107680672-107680672 |
skin; face | carcinoma; squamous_cell_carcinoma |
c.892C>T; p.Q298*; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.2020C>T; p.H674Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8160T>A; p.D2720E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1010G>A; p.R337H; 11:107623009-107623009 |
stomach | adenocarcinoma |
c.73delA; p.E26fs*8; 11:107603713-107603713 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |