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 KRT83 3889 broad.mit.edu 37 12 52710275 52710275 + Missense_Mutation SNP C C T TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr12:52710275C>T ENST00000293670.3 - 6 1080 c.1018G>A c.(1018-1020)Gag>Aag p.E340K NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 340 Coil 2.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TTCTCCACCTCGGCTGTCAGC 0.597000 5 75 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 5 84 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45502895 45502895 + Silent SNP G G A TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr21:45502895G>A ENST00000291574.4 + 14 2125 c.1950G>A c.(1948-1950)acG>acA p.T650T NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 650 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 AGCACAAGACGTCCAATGGGA 0.502000 4 160 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105361169 105361169 + Silent SNP A A C TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr14:105361169A>C ENST00000453495.1 + 19 4875 c.4647A>C c.(4645-4647)tcA>tcC p.S1549S CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000414716.3_Silent_p.S1513S centrosomal protein 170B p.S1513S(3)|p.S1479S(3)|p.S1478S(1) GCCCACCCTCACCCGCCTCAG 0.711000 4 12 0 0 1 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24892993 24892993 + Silent SNP G G A TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr13:24892993G>A ENST00000382071.2 + 3 289 c.204G>A c.(202-204)ggG>ggA p.G68G C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Silent_p.G68G P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 68 Collagen-like 1. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GGAAGGATGGGACGAGTGGAG 0.463000 4 43 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31332597 31332597 + Silent SNP G G A TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr16:31332597G>A ENST00000544665.3 + 15 1817 c.1746G>A c.(1744-1746)caG>caA p.Q582Q ITGAM_ENST00000287497.8_Silent_p.Q581Q NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 581 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CCAGGCTCCAGTATTTTGGTC 0.547000 4 125 0 0 1 0 0 GSTT1 2952 broad.mit.edu 37 22 24379404 24379404 + Missense_Mutation SNP T T C TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr22:24379404T>C ENST00000248935.5 - 3 360 c.308A>G c.(307-309)cAc>cGc p.H103R GSTT1_ENST00000439996.2_5'UTR NM_000853.2 NP_000844.2 P30711 GSTT1_HUMAN glutathione S-transferase theta 1 103 GST C-terminal. glutathione metabolic process cytosol|soluble fraction glutathione peroxidase activity|glutathione transferase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1) 6 Glutathione(DB00143) CAGAGTCGTGTGCTGCCATGC 0.607000 Myelodysplasia and Acute Myeloid Leukemia (AML), Familial 4 30 0 0 1 0 0 GNA14 9630 broad.mit.edu 37 9 80043895 80043895 + Missense_Mutation SNP C C A TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr9:80043895C>A ENST00000341700.6 - 5 1164 c.651G>T c.(649-651)gaG>gaT p.E217D GNA14_ENST00000464095.1_5'UTR NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 217 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 AGGTGACACTCTCAAAGCAGT 0.483000 10 120 2.17888e-05 2.24113e-05 1 1 0 XXbac-BPG308J9.3 0 broad.mit.edu 37 6 29231508 29231508 + RNA SNP A A G TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr6:29231508A>G ENST00000441381.1 + 0 79 GGGTCATATGACATCACAGCC 0.458000 6 196 0 0 1 0 0 CCDC109B 55013 broad.mit.edu 37 4 110603877 110603877 + Silent SNP A A G TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr4:110603877A>G ENST00000394650.4 + 5 724 c.591A>G c.(589-591)gaA>gaG p.E197E NM_017918.4 NP_060388.2 Q9NWR8 C109B_HUMAN coiled-coil domain containing 109B 197 integral to membrane breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1) 9 OV - Ovarian serous cystadenocarcinoma(123;6.65e-06) ACCTGAAGGAACAGCTGCAGC 0.388000 3 61 0 0 1 0 0 GPNMB 10457 broad.mit.edu 37 7 23293803 23293803 + Missense_Mutation SNP C C T rs145407985 TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr7:23293803C>T ENST00000258733.4 + 3 534 c.239C>T c.(238-240)gCg>gTg p.A80V GPNMB_ENST00000453162.2_Missense_Mutation_p.A80V|GPNMB_ENST00000409458.3_Missense_Mutation_p.A80V|GPNMB_ENST00000381990.2_Missense_Mutation_p.A80V|GPNMB_ENST00000539136.1_Intron Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 80 negative regulation of cell proliferation melanosome p.A80V(1) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) CGTGTGCAGGCGGTCCTGACC 0.458000 5 109 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98533290 98533290 + Missense_Mutation SNP C C T TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr7:98533290C>T ENST00000359863.4 + 28 4312 c.4103C>T c.(4102-4104)gCg>gTg p.A1368V TRRAP_ENST00000446306.3_Missense_Mutation_p.A1367V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1368V NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1368 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTACGAATTGCGGCATTAAGT 0.393000 3 57 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99465453 99465453 + Missense_Mutation SNP G G A rs70958396 TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr15:99465453G>A ENST00000268035.6 + 11 2889 c.2278G>A c.(2278-2280)Gca>Aca p.A760T IGF1R_ENST00000558762.1_Missense_Mutation_p.A760T NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 760 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CACCACGGCCGCAGACACCTA 0.527000 3 29 0 0 1 0 0 FAM86HP 0 broad.mit.edu 37 3 129822685 129822685 + RNA SNP G G C TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr3:129822685G>C ENST00000500074.2 - 0 389 ATCTAAGTTGGCAGTGATGTC 0.567000 5 66 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026421 129026421 + Missense_Mutation SNP A A G TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr2:129026421A>G ENST00000259241.6 - 2 564 c.551T>C c.(550-552)cTa>cCa p.L184P NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 184 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GGGGTCTCGTAGCAGGGTGAT 0.622000 3 38 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49335318 49335318 + Missense_Mutation SNP C C T TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr3:49335318C>T ENST00000351842.4 - 12 1543 c.1535G>A c.(1534-1536)cGg>cAg p.R512Q USP4_ENST00000265560.4_Missense_Mutation_p.R559Q NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 559 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) AATGTCATCCCGAGGCATGAT 0.418000 6 72 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22861861 22861861 + Silent SNP G G A TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr15:22861861G>A ENST00000283645.4 + 14 2011 c.1881G>A c.(1879-1881)aaG>aaA p.K627K TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.K627K NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 627 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) ACCTGATGAAGATGCAGTCCA 0.468000 6 171 0 0 1 0 0 GLUD2 2747 broad.mit.edu 37 X 120182972 120182972 + Silent SNP T T C TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chrX:120182972T>C ENST00000328078.1 + 1 1511 c.1434T>C c.(1432-1434)ttT>ttC p.F478F NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 478 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) AAAGAAAATTTGGAAAGCATG 0.428000 14 70 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90631838 90631838 + Missense_Mutation SNP C C A rs121913503 TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr15:90631838C>A ENST00000330062.3 - 4 628 c.515G>T c.(514-516)aGg>aTg p.R172M IDH2_ENST00000539790.1_Missense_Mutation_p.R42M|IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000559482.1_Intron NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 172 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R172K(116)|p.R172M(21)|p.R172N(1) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) ATGGGCGTGCCTGCCAATGGT 0.632000 M GBM 9 35 2.74318e-10 2.90454e-10 1 1 0 UBR3 130507 broad.mit.edu 37 2 170863700 170863700 + Splice_Site SNP A A G TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr2:170863700A>G ENST00000272793.5 + 28 4280 c.4230_splice c.e28+1 p.P1410_splice UBR3_ENST00000418381.1_Splice_Site_p.P1410_splice|UBR3_ENST00000392631.1_Splice_Site_p.P231_splice Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1410 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 GAGCTTTCCCAGTAAGCATCA 0.403000 3 7 0 0 1 0 0 RTN4RL2 349667 broad.mit.edu 37 11 57243804 57243804 + Missense_Mutation SNP G G A TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr11:57243804G>A ENST00000335099.3 + 3 1000 c.683G>A c.(682-684)cGc>cAc p.R228H NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 228 axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GGCCTCAGCCGCCTCACCATC 0.701000 4 40 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528495 20528495 + Missense_Mutation SNP G G A TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr14:20528495G>A ENST00000315683.1 + 1 292 c.292G>A c.(292-294)Gtg>Atg p.V98M NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GTGGGGCTGCGTGACCCAGAT 0.468000 24 148 0 0 1 0 0 TRBC2 0 broad.mit.edu 37 7 142498903 142498903 + RNA SNP G G A rs1062612 TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr7:142498903G>A ENST00000466254.1 + 0 179 GCACAGACCCGCAGCCCCTCA 0.647000 4 106 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16360693 16360693 + Missense_Mutation SNP G G A TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr20:16360693G>A ENST00000354981.2 - 19 2111 c.1954C>T c.(1954-1956)Cgc>Tgc p.R652C KIF16B_ENST00000408042.1_Missense_Mutation_p.R652C|KIF16B_ENST00000355755.3_Missense_Mutation_p.R652C|KIF16B_ENST00000378003.2_5'UTR NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 652 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TCCTGCTTGCGAATCTGGAGC 0.517000 6 130 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 133 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32944712 32944712 + Splice_Site SNP A A G TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr6:32944712A>G ENST00000395289.2 + 7 2800 c.1200_splice c.e7+1 p.K400_splice BRD2_ENST00000374831.4_Splice_Site_p.K400_splice|BRD2_ENST00000374825.4_Splice_Site_p.K400_splice|BRD2_ENST00000395287.1_Splice_Site_p.K400_splice|BRD2_ENST00000449085.2_Splice_Site_p.K353_splice|BRD2_ENST00000443797.2_Splice_Site_p.K280_splice P25440 BRD2_HUMAN bromodomain containing 2 400 Bromo 2. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 AGCACTGTCAAGGTACCCACT 0.512000 7 30 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 3 20 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5428871 5428871 + Frame_Shift_Del DEL G G - TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr7:5428871delG ENST00000399537.4 - 5 932 c.584delC c.(583-585)cgfs p.P195fs TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P195fs O15417 TNC18_HUMAN trinucleotide repeat containing 18 195 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCCTTTGGCCGGGGCGCCCGA 0.776 2 4 --- --- --- --- HMX3 340784 broad.mit.edu 37 10 124895699 124895699 + Frame_Shift_Del DEL C C - TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr10:124895699delC ENST00000357878.5 + 1 222 c.133delC c.(133-135)ccfs p.P46fs NM_001105574.1 NP_001099044.1 A6NHT5 HMX3_HUMAN H6 family homeobox 3 46 Pro-rich. cell differentiation nucleus sequence-specific DNA binding transcription factor activity lung(4) 4 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) CCACCGGCCGCCCCCTAAGCC 0.766 2 4 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 4 7 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124887093 124887094 + In_Frame_Ins INS - - TGT TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr12:124887093_124887094insTGT ENST00000356219.3 - 15 1651_1652 c.1496_1497insACA c.(1495-1497)cca>cACAca p.499_499P>HT NCOR2_ENST00000429285.2_In_Frame_Ins_p.498_498P>HT|NCOR2_ENST00000404621.1_In_Frame_Ins_p.498_498P>HT|NCOR2_ENST00000404121.2_In_Frame_Ins_p.69_69P>HT|NCOR2_ENST00000397355.1_In_Frame_Ins_p.499_499P>HT|NCOR2_ENST00000405201.1_In_Frame_Ins_p.499_499P>HT NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 499 Poly-Gln. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.Q499Q(9) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) gctgctgctgctgttgttgctg 0.619 2 4 --- --- --- --- RP11-536C10.7 0 broad.mit.edu 37 14 19408019 19408019 + RNA DEL A A - TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr14:19408019delA ENST00000548050.1 - 0 279 NR_046104.1 CTGTGGAGCCAAAAAAAAAAT 0.393 2 4 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx be058c4c-ac5b-4de5-8182-93cefb089168 e7293682-ad76-4f1e-97f8-59ef2d8fd64a g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 7 62 --- --- --- ---