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 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R 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.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 60 88 0 0 0.000147903 0 0 ATP11A 23250 broad.mit.edu 37 13 113487317 113487317 + Silent SNP G G C TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr13:113487317G>C ENST00000487903.1 + 14 1627 c.1539G>C c.(1537-1539)gcG>gcC p.A513A ATP11A_ENST00000375645.3_Silent_p.A513A|ATP11A_ENST00000283558.8_Silent_p.A513A|ATP11A_ENST00000375630.2_Silent_p.A513A P98196 AT11A_HUMAN ATPase, class VI, type 11A 513 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) ACGAGGTGGCGCTGGTCGAAG 0.627000 18 180 0 0 7.07596e-05 0 0 PHC1 1911 broad.mit.edu 37 12 9092053 9092053 + Nonstop_Mutation SNP T T C TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr12:9092053T>C ENST00000433083.2 + 14 3023 c.2878T>C c.(2878-2880)Taa>Caa p.*960Q PHC1_ENST00000544916.1_Nonstop_Mutation_p.*1005Q|PHC1_ENST00000536844.1_Nonstop_Mutation_p.*611Q|PHC1_ENST00000543824.1_Nonstop_Mutation_p.*1005Q P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 0 SAM. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 CAAGGAGACCTAAGGTGGCCC 0.478000 2 11 0 0 6.4e-05 0 0 MAU2 23383 broad.mit.edu 37 19 19446536 19446536 + Missense_Mutation SNP T T C TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr19:19446536T>C ENST00000392313.5 + 2 332 c.286T>C c.(286-288)Tca>Cca p.S96P MAU2_ENST00000262815.8_Intron NM_015329.3 NP_056144.3 Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor 96 Sufficient for interaction with NIPBL. cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 GTGGTTGATATCACAGCAAGT 0.438000 24 68 0 0 0.000117367 0 0 DIDO1 11083 broad.mit.edu 37 20 61524262 61524262 + Nonsense_Mutation SNP G G A TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr20:61524262G>A ENST00000266070.4 - 13 3479 c.3154C>T c.(3154-3156)Cga>Tga p.R1052* DIDO1_ENST00000395335.2_Nonsense_Mutation_p.R1052*|DIDO1_ENST00000395340.1_Nonsense_Mutation_p.R1052*|DIDO1_ENST00000395343.1_Nonsense_Mutation_p.R1052* NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1052 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.R1052*(1) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GTGCTGAGTCGAGACAAAAAG 0.423000 15 41 0 0 0.000219431 0 0 SUSD1 64420 broad.mit.edu 37 9 114886546 114886546 + Missense_Mutation SNP T T C TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr9:114886546T>C ENST00000374270.3 - 6 1049 c.877A>G c.(877-879)Aca>Gca p.T293A SUSD1_ENST00000374263.3_Missense_Mutation_p.T293A|SUSD1_ENST00000374264.2_Missense_Mutation_p.T293A NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 293 Sushi 2. integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CCTGTGCATGTTAAAGTACTT 0.507000 4 147 0 0 0.00024832 0 0 CNTN3 5067 broad.mit.edu 37 3 74315640 74315640 + Missense_Mutation SNP C C G TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr3:74315640C>G ENST00000263665.6 - 21 3005 c.2978G>C c.(2977-2979)cGa>cCa p.R993P CNTN3_ENST00000477856.1_5'UTR NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 993 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ACTGGTTATTCGTGGAATCCT 0.428000 3 73 0 0 6.4e-05 0 0 ADH4 127 broad.mit.edu 37 4 100047817 100047817 + Missense_Mutation SNP T T A TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr4:100047817T>A ENST00000508393.1 - 9 1268 c.1103A>T c.(1102-1104)gAt>gTt p.D368V ADH4_ENST00000265512.7_Missense_Mutation_p.D349V|ADH4_ENST00000423445.1_Missense_Mutation_p.D368V|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.D368V P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 349 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) CACCAGTGCATCCAGATTGAA 0.373000 20 56 0 0 0.000132079 0 0 IL16 3603 broad.mit.edu 37 15 81517814 81517814 + Missense_Mutation SNP T T C TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr15:81517814T>C ENST00000394660.2 + 2 434 c.74T>C c.(73-75)cTc>cCc p.L25P IL16_ENST00000302987.4_Missense_Mutation_p.L25P NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 25 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 TCCCTGATGCTCTGTAATGCT 0.498000 15 25 0 0 0.000308642 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 4 108 0 0 1.23904e-05 0 0 PCDHB5 0 broad.mit.edu 37 5 140516258 140516258 + Silent SNP C C T TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr5:140516258C>T ENST00000231134.5 + 1 1459 c.1242C>T c.(1240-1242)gcC>gcT p.A414A NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 414 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAGCCAAGCCGAGTACAACA 0.498000 42 72 0 0 0.000374591 0 0 CLDN15 24146 broad.mit.edu 37 7 100880845 100880845 + Silent SNP T T C TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr7:100880845T>C ENST00000401528.1 - 2 1143 c.18A>G c.(16-18)gaA>gaG p.E6E CLDN15_ENST00000433422.1_5'UTR|CLDN15_ENST00000308344.5_Silent_p.E6E NM_001185080.1 NP_001172009.1 P56746 CLD15_HUMAN claudin 15 6 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 10 Lung NSC(181;0.168)|all_lung(186;0.215) AGCCAAAGGTTTCCACAGCCA 0.622000 4 38 0 0 0.00024832 0 0 PPM1J 333926 broad.mit.edu 37 1 113256123 113256123 + Missense_Mutation SNP C C T TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr1:113256123C>T ENST00000309276.6 - 2 612 c.437G>A c.(436-438)gGc>gAc p.G146D PPM1J_ENST00000464951.1_5'UTR NM_005167.5 NP_005158.5 Q5JR12 PPM1J_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1J 146 PP2C-like. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 14 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTTACCTGGCCTCGGCTAGG 0.562000 5 59 0 0 8.12818e-05 0 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 3 32 0 0 0.00024832 0 0 FBN2 2201 broad.mit.edu 37 5 127638774 127638774 + Silent SNP A A G TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr5:127638774A>G ENST00000508053.1 - 52 6782 c.5808T>C c.(5806-5808)gaT>gaC p.D1936D FBN2_ENST00000262464.4_Silent_p.D1936D P35556 FBN2_HUMAN fibrillin 2 1936 EGF-like 32; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCTCGCACTCATCAACATCTA 0.338000 27 40 0 0 0.000117367 0 0 LILRB1 0 broad.mit.edu 37 19 55085362 55085362 + Missense_Mutation SNP C C T rs145704089 byFrequency TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr19:55085362C>T ENST00000396321.2 + 1 17 c.17C>T c.(16-18)aCg>aTg p.T6M LILRB1_ENST00000418536.2_Missense_Mutation_p.T6M|LILRA2_ENST00000495786.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.T6M|LILRA2_ENST00000251377.3_Missense_Mutation_p.T6M|LILRB1_ENST00000448689.1_Missense_Mutation_p.T6M|LILRA2_ENST00000391738.3_Missense_Mutation_p.T6M|LILRA2_ENST00000251376.3_Missense_Mutation_p.T6M Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 6 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCCATCCTCACGGTCCTGATC 0.602000 HNSCC(37;0.09) 28 83 0 0 0.000147802 0 0 STK25 10494 broad.mit.edu 37 2 242439602 242439602 + Missense_Mutation SNP T T C TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr2:242439602T>C ENST00000316586.4 - 5 762 c.413A>G c.(412-414)cAc>cGc p.H138R STK25_ENST00000401869.1_Missense_Mutation_p.H138R|STK25_ENST00000405883.3_Missense_Mutation_p.H61R|STK25_ENST00000543554.1_Missense_Mutation_p.H44R|STK25_ENST00000535007.1_Missense_Mutation_p.H44R|STK25_ENST00000405585.1_Missense_Mutation_p.H61R|STK25_ENST00000403346.3_Missense_Mutation_p.H138R NM_001271977.1|NM_001271978.1 NP_001258906.1|NP_001258907.1 O00506 STK25_HUMAN serine/threonine kinase 25 138 Protein kinase. response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) GATGTCTCGGTGGATCTTGCG 0.582000 5 57 0 0 1.23904e-05 0 0 SLC35B1 10237 broad.mit.edu 37 17 47780295 47780295 + Missense_Mutation SNP T T C rs80203972 byFrequency TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr17:47780295T>C ENST00000240333.6 - 8 962 c.841A>G c.(841-843)Att>Gtt p.I281V SLC35B1_ENST00000415270.2_Missense_Mutation_p.I318V P78383 S35B1_HUMAN solute carrier family 35, member B1 281 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 GAGGCCAAAATTGTGAAGAAC 0.493000 17 68 0 0 9.7654e-05 0 0 MTIF2 4528 broad.mit.edu 37 2 55470598 55470598 + Silent SNP T T C TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr2:55470598T>C ENST00000394600.3 - 13 2254 c.1518A>G c.(1516-1518)aaA>aaG p.K506K MTIF2_ENST00000263629.4_Silent_p.K506K|MTIF2_ENST00000403721.1_Silent_p.K506K NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 506 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 CCCTTTTCTCTTTTGGCTTTA 0.313000 3 89 0 0 0.00024832 0 0 NLRP4 147945 broad.mit.edu 37 19 56373368 56373368 + Missense_Mutation SNP G G A TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr19:56373368G>A ENST00000301295.6 + 5 2451 c.2029G>A c.(2029-2031)Gtt>Att p.V677I NLRP4_ENST00000346986.5_Missense_Mutation_p.V677I|NLRP4_ENST00000587891.1_Missense_Mutation_p.V602I NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 677 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AATAAATAACGTTTCCTTTTC 0.423000 33 63 0 0 0.00058488 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd 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 79 0 0 6.4e-05 0 0 FNDC3A 22862 broad.mit.edu 37 13 49772502 49772502 + Nonsense_Mutation SNP C C T TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr13:49772502C>T ENST00000492622.2 + 23 3084 c.2779C>T c.(2779-2781)Cga>Tga p.R927* FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.R927*|FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.R871* NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 927 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) ACTTAGAATACGAATTCAAGC 0.368000 6 64 0 0 3.59834e-05 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36248871 36248871 + Missense_Mutation SNP G G A TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr11:36248871G>A ENST00000315571.5 + 5 712 c.691G>A c.(691-693)Gtc>Atc p.V231I LDLRAD3_ENST00000528989.1_Missense_Mutation_p.V182I|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.V221I|LDLRAD3_ENST00000529759.1_3'UTR NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 231 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) CCACTGCAACGTCACCTACAA 0.632000 27 56 0 0 0.000409698 0 0 C6orf223 221416 broad.mit.edu 37 6 43970504 43970518 + In_Frame_Del DEL GCGGCGGCGGCGGCG GCGGCGGCGGCGGCG - rs72369323 TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr6:43970504_43970518delGCGGCGGCGGCGGCG ENST00000336600.5 + 4 390_404 c.370_384delGCGGCGGCGGCGGCG c.(370-384)del p.AAAAA124del C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 124 Ala-rich. central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) GGTAGAGCGCgcggcggcggcggcggcggcggcgg 0.758 6 5 --- --- --- --- BCAT1 586 broad.mit.edu 37 12 24985718 24985719 + Frame_Shift_Ins INS - - TC TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr12:24985718_24985719insTC ENST00000261192.7 - 9 1508_1509 c.982_983insGA c.(982-984)gttfs p.V328fs BCAT1_ENST00000539780.1_Frame_Shift_Ins_p.V291fs|BCAT1_ENST00000538118.1_Frame_Shift_Ins_p.V327fs|BCAT1_ENST00000539282.1_Frame_Shift_Ins_p.V340fs|RP11-625L16.3_ENST00000545410.1_RNA|BCAT1_ENST00000342945.5_Frame_Shift_Ins_p.V267fs NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 328 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) AGAGCCAAACATCTCTCTCACT 0.431 9 7 --- --- --- --- RP11-19N8.4 0 broad.mit.edu 37 16 33070215 33070216 + RNA INS - - T TCGA-EM-A22J-01A-11D-A17V-08 TCGA-EM-A22J-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ff7369-a4f6-413f-9543-6a17cf47a6fd e8741687-a6ba-46e2-80d3-37d5de7b5bbd g.chr16:33070215_33070216insT ENST00000561541.1 - 0 291 TTTGCCCCCCCGTCGCCGCGGC 0.604 6 6 --- --- --- ---