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 SGIP1 84251 broad.mit.edu 37 1 67147853 67147853 + Silent SNP G G A rs139355833 TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr1:67147853G>A ENST00000371037.4 + 15 1193 c.1116G>A c.(1114-1116)tcG>tcA p.S372S SGIP1_ENST00000237247.6_Silent_p.S376S|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 372 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 ATGTACTATCGCCGCTCAATT 0.542 4 147 --- --- --- --- NTNG1 22854 broad.mit.edu 37 1 108023234 108023234 + Splice_Site SNP G G A TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr1:108023234G>A ENST00000370067.1 + 7 1782 c.1155G>A c.(1153-1155)gcG>gcA p.A385A NTNG1_ENST00000370065.1_Splice_Site_p.A419A|NTNG1_ENST00000542803.1_Splice_Site_p.P464P|NTNG1_ENST00000370071.2_Splice_Site_p.A405A|NTNG1_ENST00000370061.3_Splice_Site_p.P430P|NTNG1_ENST00000370073.2_Splice_Site_p.P464P|NTNG1_ENST00000370068.1_Splice_Site_p.P464P|NTNG1_ENST00000370072.3_Splice_Site_p.A419A|NTNG1_ENST00000370070.2_Splice_Site_p.A385A|NTNG1_ENST00000370066.1_Splice_Site_p.A405A|NTNG1_ENST00000370074.4_Splice_Site_p.T363T Q9Y2I2 NTNG1_HUMAN netrin G1 393 Laminin EGF-like 2. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ATTCTGCAGCGAATGTCTGCG 0.572 10 34 --- --- --- --- KIAA1804 84451 broad.mit.edu 37 1 233518097 233518097 + Silent SNP C C G TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr1:233518097C>G ENST00000366624.3 + 10 3012 c.2751C>G c.(2749-2751)ctC>ctG p.L917L MLK4_ENST00000366622.1_Silent_p.L363L NM_032435.2 NP_115811.2 CACTGCCACTCTGCCCCTCAC 0.532 3 113 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546303 233546303 + Silent SNP C C T TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr2:233546303C>T ENST00000264059.3 + 4 1071 c.594C>T c.(592-594)gcC>gcT p.A198A EFHD1_ENST00000409708.1_Silent_p.A86A|EFHD1_ENST00000409613.1_Silent_p.A102A|EFHD1_ENST00000410095.1_Silent_p.A86A NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 198 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGGTCCAAGCCTTGTCATCGG 0.572 79 130 --- --- --- --- TRIM42 287015 broad.mit.edu 37 3 140406902 140406902 + Missense_Mutation SNP A A G TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr3:140406902A>G ENST00000286349.3 + 3 1569 c.1378A>G c.(1378-1380)Acc>Gcc p.T460A NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 460 COS. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CATCCAGACCACCTACAGGCC 0.577 6 52 --- --- --- --- DLG1 1739 broad.mit.edu 37 3 196867046 196867046 + Missense_Mutation SNP G G C TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr3:196867046G>C ENST00000346964.2 - 9 966 c.777C>G c.(775-777)atC>atG p.I259M DLG1_ENST00000450955.1_Missense_Mutation_p.I226M|DLG1_ENST00000419354.1_Missense_Mutation_p.I259M|DLG1_ENST00000392382.2_Missense_Mutation_p.I226M|DLG1_ENST00000422288.1_Missense_Mutation_p.I208M|DLG1_ENST00000448528.2_Missense_Mutation_p.I259M|DLG1_ENST00000357674.4_Missense_Mutation_p.I226M|DLG1_ENST00000443183.1_Missense_Mutation_p.I143M|DLG1_ENST00000452595.1_Missense_Mutation_p.I143M|DLG1_ENST00000314062.3_Missense_Mutation_p.I208M NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 259 PDZ 1. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) CTCCCCCTGTGATAATTTTGG 0.443 3 148 --- --- --- --- TNPO1 3842 broad.mit.edu 37 5 72195834 72195834 + Splice_Site SNP A A G TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr5:72195834A>G ENST00000337273.5 + 21 2766 c.2340A>G c.(2338-2340)gcA>gcG p.A780A TNPO1_ENST00000454282.1_Splice_Site_p.A730A|TNPO1_ENST00000506351.2_Splice_Site_p.A772A|TNPO1_ENST00000523768.1_Splice_Site_p.A730A NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 780 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) TTACCTTAGCAATAACAATTG 0.398 41 69 --- --- --- --- DCP2 167227 broad.mit.edu 37 5 112343668 112343668 + Missense_Mutation SNP T T C TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr5:112343668T>C ENST00000389063.2 + 9 1174 c.976T>C c.(976-978)Tat>Cat p.Y326H DCP2_ENST00000543319.1_Missense_Mutation_p.Y115H|DCP2_ENST00000515408.1_Intron NM_152624.5 NP_689837 Q8IU60 DCP2_HUMAN decapping mRNA 2 326 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) CAGAAAACAGTATCAAGATTC 0.343 28 41 --- --- --- --- PCDHB13 56123 broad.mit.edu 37 5 140595972 140595972 + Silent SNP A A G TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr5:140595972A>G ENST00000341948.4 + 1 2464 c.2277A>G c.(2275-2277)tcA>tcG p.S759S NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 759 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGGAGGCTCAGGGACCAATG 0.552 3 127 --- --- --- --- LGSN 51557 broad.mit.edu 37 6 63995626 63995626 + Missense_Mutation SNP G G T TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr6:63995626G>T ENST00000370658.5 - 3 229 c.196C>A c.(196-198)Cca>Aca p.P66T LGSN_ENST00000370657.4_Missense_Mutation_p.P66T NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 66 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) AGTTGAGGTGGGGTCAAAATT 0.438 3 65 --- --- --- --- ANKIB1 54467 broad.mit.edu 37 7 92020490 92020490 + Missense_Mutation SNP A A G TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr7:92020490A>G ENST00000265742.3 + 16 2439 c.2063A>G c.(2062-2064)gAa>gGa p.E688G NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 688 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACAGACCTAGAAATGGTCACT 0.428 14 87 --- --- --- --- MMP16 4325 broad.mit.edu 37 8 89058941 89058941 + Missense_Mutation SNP C C T TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr8:89058941C>T ENST00000286614.6 - 9 1726 c.1445G>A c.(1444-1446)gGg>gAg p.G482E NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 482 Hemopexin-like 3. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TTCAGGGATCCCTTTCCAGAC 0.373 7 75 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89692849 89692849 + Nonsense_Mutation SNP G G A TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr10:89692849G>A ENST00000371953.3 + 5 1690 c.333G>A c.(331-333)tgG>tgA p.W111* NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 111 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTGACCAATGGCTAAGTGAAG 0.393 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 19 86 --- --- --- --- OR5L2 26338 broad.mit.edu 37 11 55594795 55594795 + Missense_Mutation SNP T T C TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr11:55594795T>C ENST00000378397.1 + 1 101 c.101T>C c.(100-102)aTc>aCc p.I34T NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TTCCTTCTCATCTATGGAGTC 0.517 HNSCC(27;0.073) 37 291 --- --- --- --- RELA 5970 broad.mit.edu 37 11 65423213 65423213 + Missense_Mutation SNP G G A TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr11:65423213G>A ENST00000525693.1 - 10 1041 c.979C>T c.(979-981)Cca>Tca p.P327S RELA_ENST00000406246.3_Missense_Mutation_p.P327S|RELA_ENST00000308639.9_Missense_Mutation_p.P324S Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 327 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 CGTCGAGGTGGAGGCCGGGGG 0.622 27 34 --- --- --- --- SCN3B 55800 broad.mit.edu 37 11 123516294 123516294 + Splice_Site SNP C C T TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr11:123516294C>T ENST00000392770.2 - 2 1022 c.e2+1 SCN3B_ENST00000530277.1_Splice_Site|SCN3B_ENST00000299333.3_Splice_Site NM_018400.3 NP_060870.1 Q9NY72 SCN3B_HUMAN sodium channel, voltage-gated, type III, beta subunit axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) GTCTAACATACAAGGAAATCT 0.572 48 89 --- --- --- --- CAPNS1 826 broad.mit.edu 37 19 36636739 36636739 + Missense_Mutation SNP A A C TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr19:36636739A>C ENST00000246533.3 + 7 1086 c.488A>C c.(487-489)gAa>gCa p.E163A CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E173A|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Missense_Mutation_p.E133A|CAPNS1_ENST00000588815.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E163A NM_001003962.1|NM_001749.2 NP_001003962.1|NP_001740.1 P04632 CPNS1_HUMAN calpain, small subunit 1 163 EF-hand 2. positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGCTTTGAGGAATTCAAGTAC 0.532 38 69 --- --- --- --- NUMBL 9253 broad.mit.edu 37 19 41174032 41174032 + Missense_Mutation SNP A A G TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr19:41174032A>G ENST00000252891.4 - 10 1338 c.1171T>C c.(1171-1173)Tgg>Cgg p.W391R NUMBL_ENST00000540131.1_Missense_Mutation_p.W350R|NUMBL_ENST00000598779.1_Missense_Mutation_p.W350R NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 391 cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) GGCTCACCCCAGGCAGAAGTC 0.652 2 12 --- --- --- --- FPR2 2358 broad.mit.edu 37 19 52272719 52272719 + Missense_Mutation SNP G G A TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr19:52272719G>A ENST00000598776.1 + 2 1580 c.808G>A c.(808-810)Gag>Aag p.E270K FPR2_ENST00000340023.6_Missense_Mutation_p.E270K|FPR2_ENST00000598953.1_Missense_Mutation_p.E270K NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 270 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 CTGGCTCAAAGAGATGTTGTT 0.512 20 32 --- --- --- --- SLC37A1 54020 broad.mit.edu 37 21 43967227 43967227 + Silent SNP A A C TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chr21:43967227A>C ENST00000352133.2 + 9 1727 c.745A>C c.(745-747)Agg>Cgg p.R249R SLC37A1_ENST00000398341.3_Silent_p.R249R P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 249 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 GAACGACGTCAGGTGCTCCTC 0.552 27 118 --- --- --- --- PHKA1 5255 broad.mit.edu 37 X 71840634 71840634 + Missense_Mutation SNP A A T TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chrX:71840634A>T ENST00000339490.3 - 19 2378 c.2078T>A c.(2077-2079)gTg>gAg p.V693E PHKA1_ENST00000373542.4_Missense_Mutation_p.V693E|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.V693E NM_001122670.1 NP_001116142.1 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 693 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) GGTTGTTTGCACAGCAGCTTG 0.517 4 45 --- --- --- --- GPR50 9248 broad.mit.edu 37 X 150348881 150348881 + Missense_Mutation SNP T T C TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8733559-f04a-4325-b92b-4508013a853b 3c4dfdcc-2193-4780-bd67-716947ce87f2 g.chrX:150348881T>C ENST00000218316.3 + 2 895 c.826T>C c.(826-828)Tat>Cat p.Y276H NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 276 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CAACTGGCTTTATCTTGCAGC 0.512 4 83 --- --- --- ---