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 pox qox pox_cutoff isArtifactMode oxoGCut SPTBN1 6711 broad.mit.edu 37 2 54844759 54844759 + Missense_Mutation SNP A A G TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:54844759A>G ENST00000333896.5 + 5 927 c.542A>G c.(541-543)aAc>aGc p.N181S SPTBN1_ENST00000356805.4_Missense_Mutation_p.N194S NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 194 Actin-binding.|CH 2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CCCAATGTCAACATTCACAAT 0.438000 16 41 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346705 29346705 + Silent SNP C C T rs111870710 byFrequency TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr15:29346705C>T ENST00000558402.1 + 5 1217 c.618C>T c.(616-618)ggC>ggT p.G206G APBA2_ENST00000558259.1_Silent_p.G206G|APBA2_ENST00000558330.1_Silent_p.G206G|APBA2_ENST00000411764.1_Silent_p.G206G|APBA2_ENST00000561069.1_Silent_p.G206G Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 206 STXBP1-binding. DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). nervous system development|protein transport protein binding p.G206G(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGAACACCGGCGCCTCCCCCT 0.607000 5 24 0 0 1 0 0 LILRA5 353514 broad.mit.edu 37 19 54822623 54822623 + Missense_Mutation SNP A A G TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr19:54822623A>G ENST00000446712.3 - 4 815 c.737T>C c.(736-738)cTt>cCt p.L246P LILRA5_ENST00000301219.3_Intron|LILRA5_ENST00000432233.3_Missense_Mutation_p.L258P|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Intron NM_181986.2 NP_871715.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 0 innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGCCTGTAAAGCTCTCCACA 0.512000 23 36 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824431 54824431 + Missense_Mutation SNP G G C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr20:54824431G>C ENST00000243911.2 + 1 644 c.532G>C c.(532-534)Gtg>Ctg p.V178L NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 215 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CTGTGGCGTGGTGTTCATCGT 0.557000 44 76 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55418074 55418074 + Missense_Mutation SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr19:55418074G>A ENST00000594765.1 + 3 289 c.264G>A c.(262-264)atG>atA p.M88I NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.M88I|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.M88I|NCR1_ENST00000338835.5_Missense_Mutation_p.M88I|NCR1_ENST00000598576.1_Missense_Mutation_p.M76I O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 88 Ig-like 1. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) TCCCGGACATGAACTCCCGCA 0.517000 33 62 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47545929 47545929 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr21:47545929C>T ENST00000300527.4 + 26 2304 c.2200C>T c.(2200-2202)Cgc>Tgc p.R734C COL6A2_ENST00000357838.4_Missense_Mutation_p.R734C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R734C|COL6A2_ENST00000409416.1_Missense_Mutation_p.R734C|COL6A2_ENST00000310645.5_Missense_Mutation_p.R734C NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 734 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CACGGACGGGCGCCACGACCC 0.637000 40 105 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 66 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104107482 104107482 + Silent SNP C C A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr12:104107482C>A ENST00000388887.2 + 42 4677 c.4473C>A c.(4471-4473)acC>acA p.T1491T NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1491 EGF-like 12. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GTAAGAGAACCACCCCAGGAA 0.542000 79 156 1.34917e-44 1.65881e-44 1 1 0 ATXN1 6310 broad.mit.edu 37 6 16327915 16327915 + Missense_Mutation SNP A A C rs11969612 by1000genomes TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr6:16327915A>C ENST00000244769.4 - 8 1563 c.627T>G c.(625-627)caT>caG p.H209Q ATXN1_ENST00000436367.1_Missense_Mutation_p.H209Q NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 209 Poly-Gln. H -> Q (in dbSNP:rs11969612). cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.H209delH(2)|p.H209_H211delHQH(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgatgctgatgctgctgct 0.667000 3 28 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49772367 49772367 + Missense_Mutation SNP A A G TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr13:49772367A>G ENST00000492622.2 + 22 3045 c.2740A>G c.(2740-2742)Att>Gtt p.I914V FNDC3A_ENST00000398316.3_Missense_Mutation_p.I858V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.I914V NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 914 Fibronectin type-III 7. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TACAAGCTATATTATCAACAA 0.363000 55 108 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120148383 120148383 + Missense_Mutation SNP G G T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr12:120148383G>T ENST00000392521.2 - 38 4952 c.4897C>A c.(4897-4899)Cgt>Agt p.R1633S CIT_ENST00000261833.7_Missense_Mutation_p.R1591S|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1591 CNH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ATGTCTAGACGGTCATCACCT 0.483000 32 85 1.56738e-10 1.72872e-10 1 1 0 PDE12 201626 broad.mit.edu 37 3 57543283 57543283 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr3:57543283C>T ENST00000311180.8 + 1 1280 c.1177C>T c.(1177-1179)Ctt>Ttt p.L393F PDE12_ENST00000487257.1_Missense_Mutation_p.L393F NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 393 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) TAAGTTCAGCCTTCTTAGCCA 0.532000 24 32 0 0 1 0 0 PTGES2 80142 broad.mit.edu 37 9 130886072 130886072 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr9:130886072C>T ENST00000338961.6 - 4 1339 c.595G>A c.(595-597)Ggc>Agc p.G199S PTGES2_ENST00000483625.1_5'UTR|PTGES2_ENST00000277462.5_Missense_Mutation_p.G8S NM_001256335.1|NM_025072.6 NP_001243264.1|NP_079348.1 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 199 cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(2) 4 ACCTCCTTGCCCTGCTCGTTC 0.577000 29 63 0 0 1 0 0 DBNL 28988 broad.mit.edu 37 7 44098509 44098509 + Silent SNP C C T rs148365536 byFrequency TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr7:44098509C>T ENST00000494774.1 + 9 786 c.765C>T c.(763-765)gcC>gcT p.A255A DBNL_ENST00000468694.1_Silent_p.A263A|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Silent_p.A160A|DBNL_ENST00000440166.1_Silent_p.A151A|DBNL_ENST00000456905.1_Silent_p.A206A|DBNL_ENST00000452943.1_Silent_p.A230A|DBNL_ENST00000448521.1_Silent_p.A254A NM_014063.6 NP_054782.2 Q9UJU6 DBNL_HUMAN drebrin-like 254 activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 AGGAGTCTGCCGTGCACCCGA 0.612000 15 31 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213962 102213962 + Missense_Mutation SNP C C G TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr8:102213962C>G ENST00000520347.1 - 2 2964 c.8G>C c.(7-9)cGt>cCt p.R3P ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P Q9Y5V0 ZN706_HUMAN zinc finger protein 706 3 intracellular zinc ion binding p.R3P(2) large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGCTGTCCACGAGCCATATC 0.398000 7 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179401254 179401254 + Missense_Mutation SNP T T C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:179401254T>C ENST00000589042.1 - 357 100444 c.100220A>G c.(100219-100221)gAt>gGt p.D33407G TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24534G|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D24467G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30839G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D24342G|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D31766G|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31766 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACACAAGAATCTTTTGTGAC 0.403000 24 61 0 0 1 0 0 DLST 1743 broad.mit.edu 37 14 75361079 75361079 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr14:75361079C>T ENST00000334220.4 + 10 798 c.737C>T c.(736-738)gCa>gTa p.A246V DLST_ENST00000334212.6_Missense_Mutation_p.A160V|DLST_ENST00000555190.1_3'UTR NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 246 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) AATACATGTGCAATGCTGACA 0.468000 49 50 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179545821 179545821 + Missense_Mutation SNP G G T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr5:179545821G>T ENST00000393371.2 - 8 1249 c.953C>A c.(952-954)gCc>gAc p.A318D RASGEF1C_ENST00000361132.4_Missense_Mutation_p.A318D|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.A167D Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 318 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTCACTTTGGCCCAGGTCTT 0.627000 32 77 3.67414e-24 4.37398e-24 1 1 0 CKAP5 9793 broad.mit.edu 37 11 46810308 46810308 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr11:46810308C>T ENST00000529230.1 - 16 1937 c.1891G>A c.(1891-1893)Gac>Aac p.D631N CKAP5_ENST00000312055.5_Missense_Mutation_p.D631N|CKAP5_ENST00000415402.1_Missense_Mutation_p.D631N|CKAP5_ENST00000354558.3_Missense_Mutation_p.D631N Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 631 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCAGTTCGGTCCATTAGCTCA 0.368000 20 38 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70079789 70079789 + Missense_Mutation SNP G G T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr4:70079789G>T ENST00000446444.1 - 1 660 c.652C>A c.(652-654)Ctt>Att p.L218I RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 218 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TCAAAATAAAGCACATAGATC 0.338000 17 63 2.35188e-11 2.67259e-11 1 1 0 ALS2CL 259173 broad.mit.edu 37 3 46725326 46725326 + Missense_Mutation SNP G G C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr3:46725326G>C ENST00000318962.4 - 9 941 c.858C>G c.(856-858)caC>caG p.H286Q ALS2CL_ENST00000415953.1_Missense_Mutation_p.H286Q NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 286 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GCGTGAGGAGGTGAAACGTGC 0.617000 46 39 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6426860 6426860 + Missense_Mutation SNP G G T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr7:6426860G>T ENST00000348035.4 + 2 266 c.53G>T c.(52-54)tGc>tTc p.C18F RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.C18F NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 18 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) GGTAAAACTTGCCTACTGATC 0.338000 26 54 1.55811e-20 1.79782e-20 1 1 0 LINC00969 440993 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 4 53 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1471026 1471026 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chrX:1471026C>T ENST00000331035.4 + 5 681 c.332C>T c.(331-333)aCc>aTc p.T111I IL3RA_ENST00000381469.2_Missense_Mutation_p.T33I NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 111 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GAGAATCTGACCTGCTGGATT 0.617000 18 30 0 0 1 0 0 USP35 57558 broad.mit.edu 37 11 77921098 77921098 + Missense_Mutation SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr11:77921098G>A ENST00000529308.1 + 10 2458 c.2197G>A c.(2197-2199)Gaa>Aaa p.E733K USP35_ENST00000526425.1_Missense_Mutation_p.E464K|USP35_ENST00000441408.2_Missense_Mutation_p.E319K|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.E301K NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 733 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) ggaaaaggaagaagaCAGCCT 0.607000 13 35 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1374583 1374583 + Missense_Mutation SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr17:1374583G>A ENST00000359786.5 - 20 2393 c.2069C>T c.(2068-2070)cCg>cTg p.P690L MYO1C_ENST00000575158.1_Missense_Mutation_p.P655L|MYO1C_ENST00000361007.2_Missense_Mutation_p.P655L|MYO1C_ENST00000545534.2_Missense_Mutation_p.P666L|MYO1C_ENST00000438665.2_Missense_Mutation_p.P671L NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 690 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCCATCCTGCGGCCGTCCTGC 0.667000 15 37 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9466668 9466668 + Missense_Mutation SNP G G C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr11:9466668G>C ENST00000379719.3 + 25 3186 c.3044G>C c.(3043-3045)gGa>gCa p.G1015A NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 1015 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) GAGAAGCATGGAGGATACAAA 0.378000 14 61 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39284101 39284101 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr6:39284101C>T ENST00000373229.5 - 5 792 c.779G>A c.(778-780)aGa>aAa p.R260K KCNK16_ENST00000437525.2_Missense_Mutation_p.R260K|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000373227.4_Intron NM_032115.3 NP_115491.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 260 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 CTGGCAGCATCTGTGCAGAAG 0.637000 3 7 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25326454 25326454 + RNA SNP A A G TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr15:25326454A>G ENST00000546682.1 + 0 71 SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 TGACTTCCATATATACATTCC 0.463000 23 151 0 0 1 0 0 TRA2B 6434 broad.mit.edu 37 3 185655648 185655648 + Translation_Start_Site SNP T T C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr3:185655648T>C ENST00000453386.2 - 1 276 c.1A>G c.(1-3)Atg>Gtg p.M1V TRA2B_ENST00000382191.4_5'UTR|TRA2B_ENST00000342294.4_Start_Codon_SNP_p.M1V NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 1 nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 CTGTCGCTCATGACTCCTGGC 0.632000 25 44 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109697937 109697937 + Silent SNP G G T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr12:109697937G>T ENST00000543201.1 + 20 2563 c.2562G>T c.(2560-2562)ggG>ggT p.G854G ACACB_ENST00000377848.3_Intron|ACACB_ENST00000377854.5_Intron|ACACB_ENST00000338432.7_Intron O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 0 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TGCACATTGGGGAAGGATCAG 0.493000 49 147 4.18559e-23 4.90499e-23 1 1 0 SH2D3C 10044 broad.mit.edu 37 9 130504111 130504111 + Missense_Mutation SNP T T C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr9:130504111T>C ENST00000314830.8 - 9 2157 c.2044A>G c.(2044-2046)Atg>Gtg p.M682V SH2D3C_ENST00000429553.1_Missense_Mutation_p.M328V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.M524V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.M614V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.M522V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.M525V NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 682 Ras-GEF. JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AAGCTGAACATGTTGCCCATA 0.672000 18 35 0 0 1 0 0 PNKD 25953 broad.mit.edu 37 2 219204600 219204600 + Missense_Mutation SNP A A C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:219204600A>C ENST00000273077.4 + 3 382 c.331A>C c.(331-333)Acc>Ccc p.T111P AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Missense_Mutation_p.T51P|PNKD_ENST00000258362.3_Missense_Mutation_p.T87P NM_015488.4 NP_056303.3 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia 111 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding p.T111P(1) NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCACTCGAAAACCCAGCCCCG 0.637000 4 8 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181765843 181765843 + Missense_Mutation SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr1:181765843G>A ENST00000526775.1 + 45 6227 c.6062G>A c.(6061-6063)cGg>cAg p.R2021Q CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1647Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2040Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2034Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2064Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1972Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2083Q NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2083 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGCAGGGAGCGGGGACGATCA 0.552000 4 30 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51751183 51751183 + Missense_Mutation SNP C C T rs142431103 TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr12:51751183C>T ENST00000543196.2 - 9 1757 c.1552G>A c.(1552-1554)Ggg>Agg p.G518R GALNT6_ENST00000356317.3_Missense_Mutation_p.G518R Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 518 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GGCTTCCCCCCGCGGTTGTTC 0.612000 11 40 0 0 1 0 0 VGLL4 9686 broad.mit.edu 37 3 11600120 11600120 + Silent SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr3:11600120G>A ENST00000273038.3 - 6 1148 c.783C>T c.(781-783)agC>agT p.S261S VGLL4_ENST00000430365.2_Silent_p.S267S|VGLL4_ENST00000404339.1_Silent_p.S266S|VGLL4_ENST00000451674.2_Silent_p.S181S|VGLL4_ENST00000424529.2_Silent_p.S177S|VGLL4_ENST00000413604.1_Silent_p.S202S NM_014667.2 NP_055482.2 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) ACTCAGGGCTGCTGGATGCTC 0.657000 32 66 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814582 137814582 + Missense_Mutation SNP G G T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:137814582G>T ENST00000409968.1 + 3 910 c.732G>T c.(730-732)aaG>aaT p.K244N THSD7B_ENST00000413152.2_Missense_Mutation_p.K213N|THSD7B_ENST00000272643.3_Missense_Mutation_p.K244N|THSD7B_ENST00000543459.1_Missense_Mutation_p.K103N thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TTAGCCTTAAGGTTGGACCAT 0.423000 79 100 2.94884e-30 3.56714e-30 1 1 0 COL1A2 1278 broad.mit.edu 37 7 94057678 94057678 + Silent SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr7:94057678C>T ENST00000297268.6 + 50 4071 c.3600C>T c.(3598-3600)ggC>ggT p.G1200G NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1200 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCTCTACTGGCGAAACCTGTA 0.428000 HNSCC(75;0.22) 30 81 0 0 1 0 0 LOC653712 653712 broad.mit.edu 37 3 128580701 128580701 + RNA SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr3:128580701C>T ENST00000498297.1 - 0 752 RP11-723O4.2_ENST00000480931.1_RNA NR_034179.1 GAGGTTGCCTCCTCCCGAGAA 0.577000 13 31 0 0 1 0 0 CLN6 54982 broad.mit.edu 37 15 68504043 68504043 + Silent SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr15:68504043G>A ENST00000249806.5 - 4 613 c.456C>T c.(454-456)ccC>ccT p.P152P CLN6_ENST00000564752.1_Silent_p.P152P|CLN6_ENST00000418702.2_Intron|CLN6_ENST00000538696.1_Silent_p.P184P|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Intron|CLN6_ENST00000565471.1_Intron NM_017882.2 NP_060352.1 Q9NWW5 CLN6_HUMAN ceroid-lipofuscinosis, neuronal 6, late infantile, variant 152 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 TCTTGATGATGGGGTTCTCAC 0.582000 65 135 0 0 1 0 0 ZFAND5 7763 broad.mit.edu 37 9 74975552 74975552 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr9:74975552C>T ENST00000237937.3 - 2 700 c.143G>A c.(142-144)aGc>aAc p.S48N ZFAND5_ENST00000376962.5_Missense_Mutation_p.S48N|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.S48N|ZFAND5_ENST00000343431.2_Missense_Mutation_p.S48N NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2 NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1 O76080 ZFAN5_HUMAN zinc finger, AN1-type domain 5 48 DNA binding|zinc ion binding cervix(1)|kidney(2)|lung(2)|prostate(1) 6 ACCCATTGGGCTCATTCTGCC 0.413000 66 134 0 0 1 0 0 WIPF1 7456 broad.mit.edu 37 2 175446127 175446127 + Missense_Mutation SNP G G C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:175446127G>C ENST00000392547.2 - 3 191 c.92C>G c.(91-93)gCt>gGt p.A31G WIPF1_ENST00000272746.5_Missense_Mutation_p.A31G|WIPF1_ENST00000359761.3_Missense_Mutation_p.A31G|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.A31G|WIPF1_ENST00000392546.2_Missense_Mutation_p.A31G|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.A31G|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.A31G NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 31 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 ATTTCTCCCAGCCTGCTCTGT 0.418000 52 116 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167645514 167645514 + Missense_Mutation SNP G G C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr5:167645514G>C ENST00000519204.1 + 22 4373 c.4255G>C c.(4255-4257)Gat>Cat p.D1419H TENM2_ENST00000545108.1_Missense_Mutation_p.D1539H|TENM2_ENST00000403607.2_Missense_Mutation_p.D1364H|TENM2_ENST00000518659.1_Missense_Mutation_p.D1540H|TENM2_ENST00000520394.1_Missense_Mutation_p.D1301H teneurin transmembrane protein 2 CTACGCGACTGATGCCATCTT 0.498000 79 163 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40376881 40376881 + Silent SNP C C A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr17:40376881C>A ENST00000293328.3 - 4 459 c.291G>T c.(289-291)acG>acT p.T97T NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 97 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) AGCGGTCATACGTGTTCTGAA 0.542000 3 37 0.00909568 0.00934488 1 1 0 USP9Y 8287 broad.mit.edu 37 Y 14885611 14885611 + Missense_Mutation SNP C C G TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chrY:14885611C>G ENST00000338981.3 + 17 3028 c.2083C>G c.(2083-2085)Cgt>Ggt p.R695G USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 695 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TCTTTGTGATCGTGAAGCCTG 0.398000 38 13 0 0 1 0 0 ZNF449 203523 broad.mit.edu 37 X 134494851 134494851 + Silent SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chrX:134494851G>A ENST00000339249.4 + 5 1547 c.1407G>A c.(1405-1407)ggG>ggA p.G469G NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 469 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ATTATTGTGGGAAAAGTTTTA 0.388000 86 36 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168106779 168106779 + Silent SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:168106779G>A ENST00000409195.1 + 9 8966 c.8877G>A c.(8875-8877)tcG>tcA p.S2959S XIRP2_ENST00000295237.9_Silent_p.S2959S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S2737S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2784 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGATTTTGTCGAGAGTGAAAC 0.383000 35 87 0 0 1 0 0 LOC101927533 101927533 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 3 3 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113332168 113332168 + Frame_Shift_Del DEL T T - TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr8:113332168delT ENST00000297405.5 - 46 7452 c.7208delA c.(7207-7209)atfs p.N2403fs CSMD3_ENST00000343508.3_Frame_Shift_Del_p.N2363fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.N2299fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.N2333fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2403 Sushi 13. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AATTTCAGCATTGGGCACAGG 0.353 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 45 68 --- --- --- --- SPATA31D5P 347127 broad.mit.edu 37 9 84528612 84528614 + RNA DEL TTG TTG - TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr9:84528612_84528614delTTG ENST00000527857.1 + 0 221 NR_026851.1 AGATTCCCTCTTGTTGTTTCCCA 0.389 3 3 --- --- --- --- C1S 716 broad.mit.edu 37 12 7171652 7171653 + Frame_Shift_Ins INS - - C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr12:7171652_7171653insC ENST00000406697.1 + 8 1101_1102 c.473_474insC c.(472-474)tccfs p.S158fs C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs P09871 C1S_HUMAN complement component 1, s subcomponent 158 EGF-like; calcium-binding. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTCTGCTCCTGCCCCCCGGAAT 0.455 41 141 --- --- --- --- RTL1 388015 broad.mit.edu 37 14 101350670 101350671 + In_Frame_Ins INS - - TCT rs55755518 by1000genomes TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr14:101350670_101350671insTCT ENST00000534062.1 - 1 513_514 c.455_456insAGA c.(454-456)gca>gAGAca p.152_152A>ET NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 152 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TCTGGTTTTGCTCTTGAGGAGT 0.520 5 1 --- --- --- --- TRAF3 7187 broad.mit.edu 37 14 103352585 103352585 + Frame_Shift_Del DEL C C - TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr14:103352585delC ENST00000560371.1 + 6 847 c.630delC c.(628-630)gtfs p.V210fs TRAF3_ENST00000347662.4_Frame_Shift_Del_p.V210fs|TRAF3_ENST00000392745.2_Frame_Shift_Del_p.V210fs|TRAF3_ENST00000351691.5_Frame_Shift_Del_p.V210fs|TRAF3_ENST00000539721.1_Intron NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 210 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) AGTGCAGCGTCCAGACTCTCC 0.607 10 9 --- --- --- --- MAP2K1 5604 broad.mit.edu 37 15 66729094 66729099 + In_Frame_Del DEL TGGAGA TGGAGA - TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr15:66729094_66729099delTGGAGA ENST00000307102.5 + 3 833_838 c.302_307delTGGAGA c.(301-309)ctc>c p.LEI101del NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 101 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 CTAATTCATCTGGAGATCAAACCCGC 0.447 24 56 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 5 2 --- --- --- ---