Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample APOBEC4 403314 broad.mit.edu 37 1 183617689 183617689 + Silent SNP A A T TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr1:183617689A>T ENST00000308641.4 - 2 499 c.228T>A c.(226-228)ggT>ggA p.G76G RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 76 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 GCACCAGGCTACCAGAAGAAG 0.388 5 41 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 186064439 186064439 + Silent SNP C C T TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr1:186064439C>T ENST00000271588.4 + 68 10588 c.10359C>T c.(10357-10359)acC>acT p.T3453T HMCN1_ENST00000367492.2_Silent_p.T3453T NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3453 Ig-like C2-type 33. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GTAGTTCCACCTCTATGGCAT 0.493 9 38 --- --- --- --- PUM2 23369 broad.mit.edu 37 2 20463106 20463106 + Silent SNP A A C TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr2:20463106A>C ENST00000361078.2 - 13 2095 c.2073T>G c.(2071-2073)ccT>ccG p.P691P PUM2_ENST00000403432.1_Silent_p.P691P|PUM2_ENST00000536417.1_Silent_p.P635P|PUM2_ENST00000338086.5_Silent_p.P691P|PUM2_ENST00000319801.5_Silent_p.P612P Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 691 regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCGGGAAGGAGGAAAGAGCT 0.463 15 30 --- --- --- --- TMEM87B 84910 broad.mit.edu 37 2 112813329 112813329 + Missense_Mutation SNP A A G TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr2:112813329A>G ENST00000283206.4 + 1 530 c.161A>G c.(160-162)aAc>aGc p.N54S NM_032824.2 NP_116213.1 Q96K49 TM87B_HUMAN transmembrane protein 87B 54 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1) 19 GAGACAGTCAACGACGTAAGT 0.711 11 23 --- --- --- --- ASB1 51665 broad.mit.edu 37 2 239353281 239353281 + Silent SNP C C T TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr2:239353281C>T ENST00000264607.4 + 4 1040 c.793C>T c.(793-795)Cta>Tta p.L265L ASB1_ENST00000409297.1_Silent_p.L164L NM_001040445.1 NP_001035535.1 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box containing 1 265 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) CAACCTGAATCTAGTGAAGTG 0.562 24 49 --- --- --- --- ATP13A5 344905 broad.mit.edu 37 3 193002807 193002807 + Missense_Mutation SNP C C A TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr3:193002807C>A ENST00000342358.4 - 27 3239 c.3122G>T c.(3121-3123)aGt>aTt p.S1041I ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 1041 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GGTCTCAAAACTTAAAATTGA 0.393 13 31 --- --- --- --- ARHGAP26 23092 broad.mit.edu 37 5 142264887 142264887 + Missense_Mutation SNP G G C TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr5:142264887G>C ENST00000378004.3 + 5 764 c.409G>C c.(409-411)Gag>Cag p.E137Q ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E137Q NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 137 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTATGACAAAGAGACAGAAAA 0.358 13 42 --- --- --- --- FAM71B 153745 broad.mit.edu 37 5 156590271 156590271 + Missense_Mutation SNP G G T TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr5:156590271G>T ENST00000302938.4 - 2 1100 c.1005C>A c.(1003-1005)aaC>aaA p.N335K NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 335 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGAGGATATGTTGGCAGCAC 0.567 28 69 --- --- --- --- CPED1 79974 broad.mit.edu 37 7 120768459 120768459 + Silent SNP A A C TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr7:120768459A>C ENST00000310396.5 + 11 1793 c.1326A>C c.(1324-1326)ctA>ctC p.L442L CPED1_ENST00000423795.1_Silent_p.L222L|CPED1_ENST00000450913.2_Silent_p.L442L NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 AAAAGGAACTAAATCAGTGTC 0.358 13 29 --- --- --- --- SLC5A12 159963 broad.mit.edu 37 11 26725366 26725366 + Silent SNP T T C TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr11:26725366T>C ENST00000396005.3 - 5 963 c.654A>G c.(652-654)acA>acG p.T218T SLC5A12_ENST00000280467.6_Silent_p.T218T NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 218 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 GAGATCCATTTGTTGATTGCT 0.358 40 73 --- --- --- --- TMEM132A 54972 broad.mit.edu 37 11 60702905 60702905 + Missense_Mutation SNP C C A TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr11:60702905C>A ENST00000005286.4 + 10 2174 c.2021C>A c.(2020-2022)gCc>gAc p.A674D TMEM132A_ENST00000453848.2_Missense_Mutation_p.A673D NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 673 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GCCCTTCCCGCCCCAAAGCAG 0.642 3 5 --- --- --- --- BICD1 636 broad.mit.edu 37 12 32369195 32369195 + Silent SNP C C G TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr12:32369195C>G ENST00000548411.1 + 2 409 c.228C>G c.(226-228)tcC>tcG p.S76S BICD1_ENST00000281474.5_Silent_p.S76S NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 76 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) TTGGGCAGTCCTTCTCCATCC 0.463 4 54 --- --- --- --- BICD1 636 broad.mit.edu 37 12 32369197 32369197 + Missense_Mutation SNP T T C TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr12:32369197T>C ENST00000548411.1 + 2 411 c.230T>C c.(229-231)tTc>tCc p.F77S BICD1_ENST00000281474.5_Missense_Mutation_p.F77S NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 77 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GGGCAGTCCTTCTCCATCCAC 0.463 4 54 --- --- --- --- RFC3 5983 broad.mit.edu 37 13 34392356 34392356 + Missense_Mutation SNP G G A rs140507898 TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr13:34392356G>A ENST00000380071.3 + 1 171 c.41G>A c.(40-42)gGa>gAa p.G14E RFC3_ENST00000434425.1_Missense_Mutation_p.G14E NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 14 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) TGCTCCTTGGGACGGCTGGAC 0.701 10 37 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696426 47696426 + Missense_Mutation SNP A A T TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr17:47696426A>T ENST00000393331.3 - 7 867 c.397T>A c.(397-399)Ttc>Atc p.F133I SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000504102.1_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I|SPOP_ENST00000393328.2_Missense_Mutation_p.F133I NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133V(4) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATTTCTTGAATCCCCAGTCT 0.448 Prostate(2;0.17) 31 79 --- --- --- --- ZNF841 284371 broad.mit.edu 37 19 52580282 52580282 + Missense_Mutation SNP C C T TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr19:52580282C>T ENST00000389534.4 - 5 530 c.71G>A c.(70-72)tGc>tAc p.C24Y ZNF841_ENST00000426391.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.C24Y NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 AGGGTCCAGGCATTTCCACTC 0.468 15 41 --- --- --- --- MKL1 57591 broad.mit.edu 37 22 40816928 40816928 + Silent SNP G G C TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr22:40816928G>C ENST00000396617.3 - 10 1394 c.804C>G c.(802-804)ctC>ctG p.L268L MKL1_ENST00000407029.1_Silent_p.L268L|MKL1_ENST00000355630.3_Silent_p.L268L|MKL1_ENST00000402042.1_Silent_p.L218L NM_001282662.1 NP_001269591.1 Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 268 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GCTGGAGGAAGAGCTGCTGCT 0.627 T RBM15 acute megakaryocytic leukemia 16 36 --- --- --- --- C3orf72 401089 broad.mit.edu 37 3 138669318 138669323 + In_Frame_Del DEL TGAGCG TGAGCG - TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr3:138669318_138669323delTGAGCG ENST00000383165.3 + 3 563_568 c.432_437delTGAGCG c.(430-438)cctgagcgg>ccg p.ER147del NM_001040061.2 NP_001035150.1 Q6ZUU3 CC072_HUMAN chromosome 3 open reading frame 72 147 large_intestine(1)|lung(3) 4 TTCCCGCTCCTGAGCGGGAGAGAATA 0.626 17 40 --- --- --- --- IFT81 28981 broad.mit.edu 37 12 110630424 110630424 + Frame_Shift_Del DEL G G - TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr12:110630424delG ENST00000242591.5 + 14 1976 c.1470delG c.(1468-1470)gtgfs p.V490fs IFT81_ENST00000552912.1_Frame_Shift_Del_p.V490fs NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 490 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum p.L493fs*7(1) endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 AATAACAGGTGAAAAAACTGT 0.279 12 25 --- --- --- --- MIS12 79003 broad.mit.edu 37 17 5392653 5392653 + Frame_Shift_Del DEL T T - TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr17:5392653delT ENST00000381165.3 + 3 1024 c.471delT c.(469-471)actfs p.T157fs MIS12_ENST00000573759.1_Frame_Shift_Del_p.T157fs NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2 NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1 Q9H081 MIS12_HUMAN MIS12 kinetochore complex component 157 cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2) 12 AGACGTTGACTTTCTTTGATG 0.398 79 156 --- --- --- --- BCL2L13 23786 broad.mit.edu 37 22 18178954 18178954 + Frame_Shift_Del DEL T T - TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8 a320937d-7093-4543-b6a9-f0b8137d1255 g.chr22:18178954delT ENST00000317582.5 + 5 781 c.434delT c.(433-435)gttfs p.V145fs BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000399782.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000493680.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000538149.1_Intron NM_015367.3 NP_056182.2 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 145 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2) 15 all_epithelial(15;0.123) Lung(27;0.199) GAGACCACAGTTCATGCCAGC 0.378 8 38 --- --- --- ---