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 ANPEP 290 broad.mit.edu 37 15 90349592 90349592 + Missense_Mutation SNP G G A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr15:90349592G>A ENST00000300060.6 - 2 536 c.223C>T c.(223-225)Cgc>Tgc p.R75C NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 75 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TTGGGGAGGCGGTAACGATTC 0.627000 5 71 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14024093 14024093 + Missense_Mutation SNP G G A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr19:14024093G>A ENST00000318003.7 + 5 732 c.491G>A c.(490-492)cGg>cAg p.R164Q CC2D1A_ENST00000589606.1_Missense_Mutation_p.R164Q NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 164 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GCCAAGATGCGGCGCTACGAT 0.622000 15 31 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179441971 179441971 + Nonsense_Mutation SNP C C A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr2:179441971C>A ENST00000589042.1 - 324 69315 c.69091G>T c.(69091-69093)Gaa>Taa p.E23031* TTN_ENST00000359218.5_Nonsense_Mutation_p.E14091*|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E14158*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E20463*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E13966*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E21390* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21390 Fibronectin type-III 67. 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) TTCACATGTTCCACCTTCGTG 0.448000 3 29 0.115264 0.115264 1 1 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 55 70 2.2129e-31 2.56982e-31 1 1 0 CCDC171 203238 broad.mit.edu 37 9 15579022 15579022 + Splice_Site SNP G G A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr9:15579022G>A ENST00000380701.3 + 4 680 c.e4+1 CCDC171_ENST00000297641.3_Splice_Site|CCDC171_ENST00000535968.1_Splice_Site NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 AAACTCTGTGGTAAGACTGTT 0.443000 18 26 0 0 1 0 0 GPRC5B 0 broad.mit.edu 37 16 19883141 19883141 + Missense_Mutation SNP C C A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr16:19883141C>A ENST00000300571.2 - 2 1218 c.1027G>T c.(1027-1029)Gca>Tca p.A343S GPRC5B_ENST00000569847.1_Missense_Mutation_p.A343S|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A343S|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A369S|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A343S NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 343 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 ACTTTACCTGCATTGTGTTCA 0.602000 23 49 7.76418e-22 8.73471e-22 1 1 0 SEPSECS 51091 broad.mit.edu 37 4 25160718 25160718 + Silent SNP T T C TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr4:25160718T>C ENST00000382103.2 - 2 198 c.126A>G c.(124-126)ccA>ccG p.P42P SEPSECS_ENST00000302922.3_Intron NM_016955.3 NP_058651.3 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 42 selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding endometrium(1)|large_intestine(4)|lung(2)|stomach(1) 8 Breast(46;0.173) Pyridoxal Phosphate(DB00114) AGCCATTCTCTGGACACTTGC 0.343000 10 19 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 53 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17084755 17084755 + RNA SNP T T C rs140682808 by1000genomes TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr1:17084755T>C ENST00000455405.2 - 0 261 ACTGCTCCTTTACTAGAGACC 0.577000 6 12 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 166 0 0 1 0 0 HSPA5 3309 broad.mit.edu 37 9 127998975 127998975 + Missense_Mutation SNP T T C TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr9:127998975T>C ENST00000324460.6 - 8 2064 c.1861A>G c.(1861-1863)Aag>Gag p.K621E NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 621 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding p.K621E(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) TCCAGTTCCTTCTTCTTAGCT 0.423000 Prostate(1;0.17) 30 41 0 0 1 0 0 STAG3L4 0 broad.mit.edu 37 7 66767840 66767840 + RNA SNP G G C TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr7:66767840G>C ENST00000416602.2 + 0 233 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) AGGCAGGAGCGGCGGCCCAGC 0.711000 7 5 0 0 1 0 0 GPRC5B 0 broad.mit.edu 37 16 19883140 19883140 + Missense_Mutation SNP G G A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr16:19883140G>A ENST00000300571.2 - 2 1219 c.1028C>T c.(1027-1029)gCa>gTa p.A343V GPRC5B_ENST00000569847.1_Missense_Mutation_p.A343V|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A343V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A369V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A343V NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 343 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CACTTTACCTGCATTGTGTTC 0.597000 23 47 0 0 1 0 0 LINGO1 84894 broad.mit.edu 37 15 77907884 77907884 + Missense_Mutation SNP C C T TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr15:77907884C>T ENST00000355300.6 - 2 539 c.365G>A c.(364-366)cGg>cAg p.R122Q LINGO1_ENST00000561030.1_Missense_Mutation_p.R116Q NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 122 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 ACCCAGCGTCCGGAGGTTGAA 0.617000 8 16 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823900 70823900 + Missense_Mutation SNP G G A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chrX:70823900G>A ENST00000373695.1 + 7 1310 c.773G>A c.(772-774)aGc>aAc p.S258N ACRC_ENST00000373696.3_Missense_Mutation_p.S258N Q96QF7 ACRC_HUMAN acidic repeat containing 258 Asp/Ser-rich. nucleus p.S258N(2) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CCCGACGACAGCAGTGATGAT 0.557000 4 123 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159906610 159906610 + Silent SNP G G A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr1:159906610G>A ENST00000368094.1 - 5 686 c.489C>T c.(487-489)agC>agT p.S163S IGSF9_ENST00000361509.3_Silent_p.S163S NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 163 Ig-like 2. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GAGGCAGGGGGCTGCCACGGG 0.617000 OREG0013921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 38 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44948680 44948680 + Nonsense_Mutation SNP A A T TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr3:44948680A>T ENST00000296125.4 + 10 1383 c.1315A>T c.(1315-1317)Aag>Tag p.K439* NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 439 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CTATGAGTACAAGTATCCAGA 0.512000 9 85 0 0 1 0 0 APOBEC3C 27350 broad.mit.edu 37 22 39414360 39414360 + Silent SNP C C T TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr22:39414360C>T ENST00000361441.3 + 4 821 c.541C>T c.(541-543)Ctg>Ttg p.L181L APOBEC3D_ENST00000381568.4_Intron NM_014508.2 NP_055323.2 Q9NRW3 ABC3C_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C 181 DNA demethylation|interspecies interaction between organisms|negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 Melanoma(58;0.04) CTTTCGACTTCTGAAAAGAAG 0.473000 80 123 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9013858 9013858 + Silent SNP G G A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr19:9013858G>A ENST00000397910.4 - 33 38735 c.38532C>T c.(38530-38532)ctC>ctT p.L12844L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12846 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGGGCTGGGGAGGGAGGATG 0.478000 3 23 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38128401 38128401 + Missense_Mutation SNP T T A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr17:38128401T>A ENST00000301659.4 + 6 793 c.675T>A c.(673-675)aaT>aaA p.N225K NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 225 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 ATATCTGCAATGATAACATGC 0.517000 5 5 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39854046 39854046 + Missense_Mutation SNP G G A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr1:39854046G>A ENST00000564288.1 + 58 16309 c.15532G>A c.(15532-15534)Gcc>Acc p.A5178T MACF1_ENST00000545844.1_Missense_Mutation_p.A3116T|MACF1_ENST00000361689.2_Missense_Mutation_p.A3116T|MACF1_ENST00000289893.4_Missense_Mutation_p.A3618T|MACF1_ENST00000539005.1_Missense_Mutation_p.A3095T|MACF1_ENST00000372915.3_Missense_Mutation_p.A5183T|MACF1_ENST00000317713.7_Missense_Mutation_p.A3116T|MACF1_ENST00000567887.1_Missense_Mutation_p.A5215T Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5183 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGACATAGAGGCCTCTGAAGC 0.473000 18 17 0 0 1 0 0 EIF1AX 1964 broad.mit.edu 37 X 20148693 20148693 + Nonsense_Mutation SNP C C A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chrX:20148693C>A ENST00000379607.5 - 6 573 c.370G>T c.(370-372)Gga>Tga p.G124* EIF1AX_ENST00000379593.1_Nonsense_Mutation_p.G96* NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked 124 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TCATCATCTCCAGGACCAAAT 0.323000 21 43 7.45023e-12 8.12752e-12 1 1 0 FMNL1 752 broad.mit.edu 37 17 43321229 43321229 + Missense_Mutation SNP G G A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr17:43321229G>A ENST00000331495.3 + 18 2621 c.2285G>A c.(2284-2286)cGc>cAc p.R762H FMNL1_ENST00000587489.1_Missense_Mutation_p.R340H|FMNL1_ENST00000328118.3_Missense_Mutation_p.R762H NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 762 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 GAGTATGAGCGCAGCCTCATC 0.637000 15 19 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 26 0 0 1 0 0 NSUN5 55695 broad.mit.edu 37 7 72717996 72717996 + Silent SNP G G C TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr7:72717996G>C ENST00000428206.1 - 8 871 c.858C>G c.(856-858)ggC>ggG p.G286G NSUN5_ENST00000310326.8_Silent_p.G324G|NSUN5_ENST00000252594.6_Silent_p.G324G|NSUN5_ENST00000438747.2_Silent_p.G324G NM_001168348.1 NP_001161820.1 Q96P11 NSUN5_HUMAN NOP2/Sun domain family, member 5 324 S-adenosyl-L-methionine binding. methyltransferase activity breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) GGCTAGGTGTGCCTGCCCCGG 0.607000 3 32 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 67 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612098 20612098 + Missense_Mutation SNP A A C TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr14:20612098A>C ENST00000333629.1 + 1 204 c.204A>C c.(202-204)ttA>ttC p.L68F NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ACTTGGCCTTACTGGATGCAT 0.478000 4 172 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96000545 96000545 + Missense_Mutation SNP C C T TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr9:96000545C>T ENST00000297954.4 + 5 1264 c.1264C>T c.(1264-1266)Cac>Tac p.H422Y WNK2_ENST00000395477.2_Missense_Mutation_p.H422Y|WNK2_ENST00000427277.2_Missense_Mutation_p.H34Y|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.H34Y|WNK2_ENST00000395475.2_Missense_Mutation_p.H408Y Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 422 Protein kinase. intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 TGAGAAAGTGCACGATCCTGA 0.557000 3 30 0 0 1 0 0 SHCBP1 79801 broad.mit.edu 37 16 46629511 46629511 + Missense_Mutation SNP T T G TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr16:46629511T>G ENST00000303383.3 - 10 1683 c.1417A>C c.(1417-1419)Aca>Cca p.T473P NM_024745.4 NP_079021.3 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 473 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) TCTGCTGATGTCCGCACTGTG 0.453000 24 22 0 0 1 0 0 EIF1AX 1964 broad.mit.edu 37 X 20148692 20148692 + Missense_Mutation SNP C C A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chrX:20148692C>A ENST00000379607.5 - 6 574 c.371G>T c.(370-372)gGa>gTa p.G124V EIF1AX_ENST00000379593.1_Missense_Mutation_p.G96V NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked 124 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 ATCATCATCTCCAGGACCAAA 0.328000 22 43 1.50039e-11 1.58865e-11 1 1 0 RAB6B 51560 broad.mit.edu 37 3 133558368 133558368 + Missense_Mutation SNP G G A TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr3:133558368G>A ENST00000285208.4 - 5 732 c.383C>T c.(382-384)aCg>aTg p.T128M RAB6B_ENST00000486858.1_Missense_Mutation_p.T115M|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Missense_Mutation_p.T128M NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 128 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 AGCCAGGTCCGTCTTGTTGCC 0.562000 33 40 0 0 1 0 0 RP11-584P21.2 0 broad.mit.edu 37 4 68311853 68311855 + RNA DEL GAG GAG - TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr4:68311853_68311855delGAG ENST00000502400.1 - 0 34 TCTCTATGGCGAGGAGGAGGAGG 0.547 2 4 --- --- --- --- TRERF1 55809 broad.mit.edu 37 6 42204105 42204106 + In_Frame_Ins INS - - TCC rs146190272 by1000genomes TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr6:42204105_42204106insTCC ENST00000541110.1 - 16 3531_3532 c.2963_2964insGGA c.(2962-2964)gcc>gGGAcc p.988_988A>GT TRERF1_ENST00000372917.4_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000340840.2_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000354325.2_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000372922.4_In_Frame_Ins_p.968_968A>GT Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 968 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTTCCGGGtcctcctcctc 0.530 3 3 --- --- --- --- MSLNL 401827 broad.mit.edu 37 16 830765 830766 + In_Frame_Ins INS - - CAG TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr16:830765_830766insCAG ENST00000293892.3 - 3 234_235 c.235_236insCTG c.(235-237)cac>CTGcac p.78_79insL MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 CGGGTAGGTGACGGTGTGCACG 0.589 10 36 --- --- --- --- MTSS1L 92154 broad.mit.edu 37 16 70699375 70699375 + Frame_Shift_Del DEL G G - TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr16:70699375delG ENST00000338779.6 - 12 1396 c.1122delC c.(1120-1122)ccfs p.P374fs FLJ00418_ENST00000597002.1_3'UTR NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 374 Ser-rich. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 TGACCGAGGTGGGGGAGCTGC 0.652 2 4 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 66 21 --- --- --- --- FN3KRP 79672 broad.mit.edu 37 17 80684416 80684421 + In_Frame_Del DEL ATGGAC ATGGAC - TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr17:80684416_80684421delATGGAC ENST00000269373.6 + 5 602_607 c.529_534delATGGAC c.(529-534)del p.MD177del FN3KRP_ENST00000535965.1_In_Frame_Del_p.MD127del NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 177 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) TCAGCCCCAGATGGACATGGTGGAGA 0.597 41 85 --- --- --- --- DENND6B 414918 broad.mit.edu 37 22 50751471 50751471 + Frame_Shift_Del DEL G G - TCGA-EM-A3ST-01A-11D-A22Z-08 TCGA-EM-A3ST-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx c697c70c-6fab-4a19-8ea3-07089ce52e74 d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f g.chr22:50751471delG ENST00000413817.2 - 17 1485 c.1414delC c.(1414-1416)agfs p.Q472fs NM_001001794.3 NP_001001794.3 DENN/MADD domain containing 6B CAGGTGAGCTGGGGCCCAGCA 0.647 2 4 --- --- --- ---