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 ETV3L 440695 broad.mit.edu 37 1 157067666 157067666 + Missense_Mutation SNP C C T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr1:157067666C>T ENST00000454449.2 - 4 885 c.601G>A c.(601-603)Gtc>Atc p.V201I NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 201 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V201I(3) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) TCACGGTAGACGCTGCTGCTG 0.632 25 202 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212118153 212118153 + Silent SNP C C T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr1:212118153C>T ENST00000366994.3 - 19 2678 c.2574G>A c.(2572-2574)ctG>ctA p.L858L INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.L838L|INTS7_ENST00000440600.2_Silent_p.L809L|INTS7_ENST00000366993.3_Silent_p.L844L NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 858 snRNA processing integrator complex protein binding p.L858L(1) NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) ATTTACTCTGCAGTGTGGAAG 0.423 24 160 --- --- --- --- ZNF827 152485 broad.mit.edu 37 4 146824230 146824230 + Nonsense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr4:146824230G>A ENST00000508784.1 - 2 408 c.181C>T c.(181-183)Cag>Tag p.Q61* ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.Q61* Q17R98 ZN827_HUMAN zinc finger protein 827 61 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q61*(2) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) GACTGCTCCTGGATCCGGTCC 0.567 14 79 --- --- --- --- EEF1E1 9521 broad.mit.edu 37 6 8097597 8097597 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr6:8097597G>A ENST00000379715.5 - 2 247 c.191C>T c.(190-192)aCt>aTt p.T64I EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000429723.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000507463.1_Missense_Mutation_p.T64I NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 64 GST C-terminal. negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus p.T64I(1) endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) TTCTTCTGCAGTACTCCCCAG 0.428 18 162 --- --- --- --- HCRTR2 3062 broad.mit.edu 37 6 55142195 55142195 + Silent SNP T T C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr6:55142195T>C ENST00000370862.3 + 5 1116 c.780T>C c.(778-780)tcT>tcC p.S260S NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 260 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GAACATCATCTGTAGTTCAGA 0.483 9 75 --- --- --- --- FNTA 2339 broad.mit.edu 37 8 42914260 42914260 + Missense_Mutation SNP G G T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr8:42914260G>T ENST00000302279.3 + 2 420 c.226G>T c.(226-228)Gat>Tat p.D76Y FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.D33Y|FNTA_ENST00000524546.1_3'UTR NM_002027.2 NP_002018.1 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha 76 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 16 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) GGCTGATATAGATCCGGTGCC 0.398 4 53 --- --- --- --- IL7 3574 broad.mit.edu 37 8 79645969 79645969 + Missense_Mutation SNP C C G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr8:79645969C>G ENST00000263851.4 - 6 1113 c.513G>C c.(511-513)ttG>ttC p.L171F IL7_ENST00000520269.1_Missense_Mutation_p.L127F|IL7_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.L58F NM_000880.3|NM_001199886.1|NM_001199887.1 NP_000871.1|NP_001186815.1|NP_001186816.1 P13232 IL7_HUMAN interleukin 7 171 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding endometrium(2)|large_intestine(2)|lung(1) 5 TAGTGCCCATCAAAATTTTAT 0.323 15 103 --- --- --- --- BAI1 575 broad.mit.edu 37 8 143558817 143558817 + Missense_Mutation SNP C C T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr8:143558817C>T ENST00000517894.1 + 6 2188 c.1294C>T c.(1294-1296)Cgc>Tgc p.R432C BAI1_ENST00000323289.5_Missense_Mutation_p.R432C O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 432 TSP type-1 3. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CTTTCGGGATCGCACGCGCAC 0.652 6 119 --- --- --- --- MUC2 4583 broad.mit.edu 37 11 1081737 1081737 + Silent SNP C C T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:1081737C>T ENST00000441003.2 + 13 1692 c.1665C>T c.(1663-1665)aaC>aaT p.N555N MUC2_ENST00000359061.5_Silent_p.N555N NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 555 VWFD 2. inner mucus layer|outer mucus layer protein binding p.N555N(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GCTTTGCCAACACCTGGAAGG 0.652 13 57 --- --- --- --- SLC1A2 6506 broad.mit.edu 37 11 35313864 35313864 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:35313864G>A ENST00000278379.3 - 7 1343 c.1061C>T c.(1060-1062)gCt>gTt p.A354V SLC1A2_ENST00000606205.1_Missense_Mutation_p.A354V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A345V NM_004171.3 NP_004162.2 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 354 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) AGTGATCCAAGCTTGGAAAAT 0.463 19 419 --- --- --- --- OR4S2 219431 broad.mit.edu 37 11 55418689 55418689 + Missense_Mutation SNP T T A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:55418689T>A ENST00000312422.2 + 1 310 c.310T>A c.(310-312)Ttc>Atc p.F104I NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TGGAGTACATTTCTTTGGTTG 0.428 19 288 --- --- --- --- ARHGAP32 9743 broad.mit.edu 37 11 128868319 128868319 + Missense_Mutation SNP T T C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:128868319T>C ENST00000310343.9 - 11 1047 c.1048A>G c.(1048-1050)Atg>Gtg p.M350V ARHGAP32_ENST00000392657.3_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M276V|ARHGAP32_ENST00000527272.1_Start_Codon_SNP_p.M1V NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 350 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding p.M1V(2)|p.M350V(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CGAGACTTCATGAATGTTCGT 0.403 19 128 --- --- --- --- ASUN 55726 broad.mit.edu 37 12 27081791 27081791 + Missense_Mutation SNP A A C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr12:27081791A>C ENST00000261191.7 - 4 884 c.348T>G c.(346-348)gaT>gaG p.D116E ASUN_ENST00000539625.1_Missense_Mutation_p.D15E NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 116 cell division|mitosis|regulation of mitotic cell cycle protein binding AGCACTCTGGATCTGCCCGAG 0.448 4 74 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49430959 49430959 + Nonsense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr12:49430959G>A ENST00000301067.7 - 34 10179 c.10180C>T c.(10180-10182)Cag>Tag p.Q3394* KMT2D_ENST00000549743.1_5'UTR NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.Q3394*(1)|p.Q3124*(1) GCCAATTGCTGCGGCTTCATG 0.537 8 39 --- --- --- --- CSAD 51380 broad.mit.edu 37 12 53567192 53567192 + Silent SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr12:53567192G>A ENST00000267085.4 - 4 377 c.144C>T c.(142-144)ctC>ctT p.L48L CSAD_ENST00000379846.1_Silent_p.L21L|CSAD_ENST00000379843.3_Silent_p.L21L|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000542115.1_Silent_p.L21L|CSAD_ENST00000453446.2_Silent_p.L21L|CSAD_ENST00000444623.1_Silent_p.L21L NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 21 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) ACACGGCCCGGAGCAAGGCTT 0.562 11 104 --- --- --- --- SSH1 54434 broad.mit.edu 37 12 109181845 109181845 + Missense_Mutation SNP C C G rs146644569 TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr12:109181845C>G ENST00000326495.5 - 15 3162 c.3069G>C c.(3067-3069)agG>agC p.R1023S SSH1_ENST00000360239.3_Missense_Mutation_p.R711S NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 1023 Interaction with YWHAG. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R1023S(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CAGCTGGGTCCCTCGGGGTTC 0.572 28 187 --- --- --- --- CLN5 1203 broad.mit.edu 37 13 77570129 77570129 + Missense_Mutation SNP T T G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr13:77570129T>G ENST00000377453.3 + 3 1871 c.579T>G c.(577-579)tgT>tgG p.C193W CLN5_ENST00000485938.1_3'UTR NM_006493.2 NP_006484.1 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 144 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) TTGGCAACTGTACATTTCCCC 0.418 8 195 --- --- --- --- GRIN2A 2903 broad.mit.edu 37 16 9858034 9858034 + Nonsense_Mutation SNP C C A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr16:9858034C>A ENST00000396573.2 - 14 3676 c.3367G>T c.(3367-3369)Gag>Tag p.E1123* GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E966*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1123* NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1123 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E1123*(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGCTCCTTCTCACCATCTATA 0.522 18 286 --- --- --- --- ACSM2B 348158 broad.mit.edu 37 16 20554289 20554289 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr16:20554289G>A ENST00000329697.6 - 12 1624 c.1456C>T c.(1456-1458)Cct>Tct p.P486S ACSM2B_ENST00000567001.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P407S NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 486 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.P486S(2) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 ACCACAGCAGGGTGCTTCATC 0.562 13 124 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7752710 7752710 + Missense_Mutation SNP G G T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:7752710G>T ENST00000254846.5 + 11 3493 c.3104G>T c.(3103-3105)cGg>cTg p.R1035L KDM6B_ENST00000448097.2_Missense_Mutation_p.R1035L NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1035 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GAGAAGTCCCGGCCCGATCTT 0.662 3 36 --- --- --- --- BLMH 642 broad.mit.edu 37 17 28616489 28616489 + Missense_Mutation SNP T T C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:28616489T>C ENST00000261714.6 - 3 397 c.223A>G c.(223-225)Atc>Gtc p.I75V BLMH_ENST00000394819.3_Intron NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 75 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding p.I75V(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 CAAGAAAAGATCCAGCATCGC 0.383 7 48 --- --- --- --- CCL7 6354 broad.mit.edu 37 17 32597376 32597376 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:32597376G>A ENST00000378569.2 + 1 137 c.67G>A c.(67-69)Gct>Act p.A23T CCL7_ENST00000394627.1_Missense_Mutation_p.A23T|CCL7_ENST00000394630.3_Missense_Mutation_p.A23T|CCL7_ENST00000200307.4_Missense_Mutation_p.A33T NM_006273.2 NP_006264.2 P80098 CCL7_HUMAN chemokine (C-C motif) ligand 7 23 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) CCAGGGGCTTGCTCAGCCAGG 0.557 9 85 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696432 47696432 + Missense_Mutation SNP A A G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:47696432A>G ENST00000393331.3 - 7 861 c.391T>C c.(391-393)Tgg>Cgg p.W131R SPOP_ENST00000503676.1_Missense_Mutation_p.W131R|SPOP_ENST00000393328.2_Missense_Mutation_p.W131R|SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.W131G(2)|p.W131R(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTGAATCCCCAGTCTTTGCCT 0.458 Prostate(2;0.17) 25 212 --- --- --- --- KIR3DL1 3811 broad.mit.edu 37 19 55341560 55341560 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr19:55341560G>A ENST00000391728.4 + 9 1198 c.1165G>A c.(1165-1167)Gat>Aat p.D389N KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D389N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D372N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D372N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D294N NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 p.D389N(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CCAGGACTCTGATGAACAAGA 0.527 68 361 --- --- --- --- EBP 10682 broad.mit.edu 37 X 48386620 48386620 + Splice_Site SNP A A T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chrX:48386620A>T ENST00000495186.1 + 5 1292 c.e5-1 EBP_ENST00000276096.6_Splice_Site NM_006579.2 NP_006570.1 Q15125 EBP_HUMAN emopamil binding protein (sterol isomerase) cholesterol biosynthetic process|skeletal system development endoplasmic reticulum membrane|integral to plasma membrane cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1) 11 TGCCACCCACAGGCCAGATCT 0.537 3 14 --- --- --- --- FBXO6 26270 broad.mit.edu 37 1 11733821 11733821 + Frame_Shift_Del DEL G G - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr1:11733821delG ENST00000376753.4 + 6 930 c.795delG c.(793-795)cagfs p.Q265fs NM_018438.5 NP_060908.1 Q9NRD1 FBX6_HUMAN F-box protein 6 265 DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex glycoprotein binding breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 6 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGAACCAGGCCTCCTCCG 0.617 8 91 --- --- --- --- PNPLA7 375775 broad.mit.edu 37 9 140437911 140437912 + Frame_Shift_Ins INS - - C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr9:140437911_140437912insC ENST00000406427.1 - 6 814_815 c.478_479insG c.(478-480)gaafs p.E160fs PNPLA7_ENST00000277531.4_Frame_Shift_Ins_p.E135fs NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 135 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GTACAGAACTTCCGATGGCAGG 0.639 7 197 --- --- --- --- FAM171A1 221061 broad.mit.edu 37 10 15256160 15256160 + Frame_Shift_Del DEL C C - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr10:15256160delC ENST00000378116.4 - 8 1433 c.1427delG c.(1426-1428)ggcfs p.G476fs NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 476 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GGACTCGTAGCCTTCTCTTTC 0.483 21 132 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61832387 61832388 + Frame_Shift_Ins INS - - T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr10:61832387_61832388insT ENST00000280772.2 - 37 8442_8443 c.8251_8252insA c.(8251-8253)atafs p.I2751fs ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCTCTCCTGTATTTTTTTAACT 0.401 18 156 --- --- --- ---