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 PCDHB5 26167 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 uc003liq.3 + 0 1459 c.1242C>T c.(1240-1242)gcC>gcT p.A414A NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 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 1 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 uc002qmd.4 + 4 2451 c.2029G>A c.(2029-2031)Gtt>Att p.V677I NLRP4_uc002qmf.3_Missense_Mutation_p.V602I|NLRP4_uc010etf.3_Missense_Mutation_p.V508I NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 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 1 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 uc001vcm.3 + 22 3084 c.2779C>T c.(2779-2781)Cga>Tga p.R927* FNDC3A_uc001vcn.3_Nonsense_Mutation_p.R927*|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Nonsense_Mutation_p.R871* NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA. 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 1 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 uc003kuu.3 - 45 6247 c.5808T>C c.(5806-5808)gaT>gaC p.D1936D NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 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 1 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 uc010unp.2 + 1 226 c.200T>C c.(199-201)cTc>cCc p.L67P IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.L25P|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc021ssg.1_Missense_Mutation_p.L25P|IL16_uc002bgg.3_Missense_Mutation_p.L25P|IL16_uc021ssh.1_Missense_Mutation_p.L25P NM_172217 NP_001165599 Q14005 IL16_HUMAN Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA. 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 1 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 uc011ced.2 - 8 1269 c.1103A>T c.(1102-1104)gAt>gTt p.D368V LOC100507053_uc003hum.2_Intron|ADH4_uc003hun.3_Missense_Mutation_p.D349V P08319 ADH4_HUMAN Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA. 349 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase 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 1 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 uc003uyg.2 - 0 383 c.18A>G c.(16-18)gaA>gaG p.E6E CLDN15_uc003uyh.2_Silent_p.E6E|CLDN15_uc003uyi.3_Silent_p.E6E|CLDN15_uc022aja.1_Silent_p.E6E NM_014343 NP_001172009 P56746 CLD15_HUMAN Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA. 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 1 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 uc002nmk.4 + 1 325 c.286T>C c.(286-288)Tca>Cca p.S96P NM_015329 NP_056144 Q9Y6X3 SCC4_HUMAN Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA. 96 Sufficient for interaction with NIPBL. cell division|maintenance of mitotic sister chromatid cohesion SMC loading complex|chromatin|nucleoplasm 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 1 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 uc001vsj.4 + 13 1627 c.1539G>C c.(1537-1539)gcG>gcC p.A513A ATP11A_uc001vsi.4_Silent_p.A513A|ATP11A_uc001vsm.1_Silent_p.A389A NM_032189 NP_115565 P98196 AT11A_HUMAN Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA. 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 1 0 0 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 uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(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 1 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 uc003dpm.1 - 20 3058 c.2978G>C c.(2977-2979)cGa>cCa p.R993P NM_020872 NP_065923 Q9P232 CNTN3_HUMAN Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA. 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 1 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 uc001ect.1 - 1 464 c.437G>A c.(436-438)gGc>gAc p.G146D PPM1J_uc009wgl.1_5'Flank|PPM1J_uc001ecs.1_5'UTR NM_005167 NP_005158 Q5JR12 PPM1J_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA. 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 1 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 uc002ryn.3 - 12 2255 c.1518A>G c.(1516-1518)aaA>aaG p.K506K MTIF2_uc010yox.2_Silent_p.K175K|MTIF2_uc002ryo.3_Silent_p.K506K NM_001005369 NP_002444 P46199 IF2M_HUMAN Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 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 1 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 uc002iph.1 - 7 928 c.841A>G c.(841-843)Att>Gtt p.I281V SLC35B1_uc002ipj.1_Missense_Mutation_p.I157V NM_005827 NP_005818 P78383 S35B1_HUMAN Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA. 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 1 0 0 LILRA1 11024 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 uc010ern.3 + 1 486 c.17C>T c.(16-18)aCg>aTg p.T6M LILRA1_uc002qgg.4_Missense_Mutation_p.T6M|LILRA1_uc002qgf.3_Missense_Mutation_p.T6M|LILRA1_uc010yfe.1_Missense_Mutation_p.T6M|LILRA1_uc010yff.1_Missense_Mutation_p.T6M|LILRA1_uc010ero.3_Missense_Mutation_p.T6M|LILRA1_uc010yfg.1_Missense_Mutation_p.T6M O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 6 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CCCATCCTCACGGTCCTGATC 0.602000 28 83 0 0 1 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 uc001mwk.1 + 4 728 c.691G>A c.(691-693)Gtc>Atc p.V231I LDLRAD3_uc010rey.1_Missense_Mutation_p.V182I|LDLRAD3_uc010rez.1_Missense_Mutation_p.V110I|LDLRAD3_uc010rfa.1_Intron NM_174902 NP_777562 Q86YD5 LRAD3_HUMAN Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA. 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 1 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 uc002ydr.2 - 12 3466 c.3154C>T c.(3154-3156)Cga>Tga p.R1052* DIDO1_uc002yds.2_Nonsense_Mutation_p.R1052*|DIDO1_uc002ydt.2_Nonsense_Mutation_p.R1052*|DIDO1_uc002ydu.2_Nonsense_Mutation_p.R1052* NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1052 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.R1052*(2) 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 1 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 uc010mui.3 - 5 918 c.877A>G c.(877-879)Aca>Gca p.T293A MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.T293A|SUSD1_uc010muj.3_Missense_Mutation_p.T293A Q6UWL2 SUSD1_HUMAN Homo sapiens sushi domain containing 1 (SUSD1), mRNA. 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 1 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 uc002wbm.3 - 3 684 c.413A>G c.(412-414)cAc>cGc p.H138R STK25_uc002wbl.3_5'Flank|STK25_uc002wbn.3_Missense_Mutation_p.H138R|STK25_uc002wbo.3_Missense_Mutation_p.H61R|STK25_uc010zos.2_Missense_Mutation_p.H44R|STK25_uc010zot.2_Missense_Mutation_p.H64R|STK25_uc002wbp.3_Missense_Mutation_p.H138R|STK25_uc010fzo.3_Missense_Mutation_p.H61R|STK25_uc010zou.2_Missense_Mutation_p.H44R|STK25_uc010zov.2_Missense_Mutation_p.H44R|STK25_uc010zow.2_Missense_Mutation_p.H138R NM_006374 NP_006365 O00506 STK25_HUMAN Homo sapiens serine/threonine kinase 25 (STK25), mRNA. 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 0 0 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 uc010six.2 - 8 1105_1106 c.1018_1019insGA c.(1018-1020)atgfs p.M340fs BCAT1_uc001rgc.3_Frame_Shift_Ins_p.M327fs|BCAT1_uc001rgd.4_Frame_Shift_Ins_p.M328fs|BCAT1_uc010siy.2_Frame_Shift_Ins_p.M291fs|BCAT1_uc001rge.4_Frame_Shift_Ins_p.M267fs NM_001178093 NP_001171564 P54687 BCAT1_HUMAN Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 4, mRNA. 328 G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation 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 --- --- --- ---