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 MSGN1 343930 broad.mit.edu 37 2 17998326 17998326 + Missense_Mutation SNP C C A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr2:17998326C>A ENST00000281047.3 + 1 564 c.541C>A c.(541-543)Ctc>Atc p.L181I NM_001105569.1 NP_001099039.1 A6NI15 MSGN1_HUMAN mesogenin 1 181 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ACTCACAGACCTCCTTAACCG 0.577000 21 22 0.00229938 0.0023463 1 1 0 NPR3 4883 broad.mit.edu 37 5 32724855 32724855 + Missense_Mutation SNP C C T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr5:32724855C>T ENST00000265074.8 + 2 1164 c.821C>T c.(820-822)gCg>gTg p.A274V NPR3_ENST00000415167.2_Missense_Mutation_p.A274V|NPR3_ENST00000415685.2_Missense_Mutation_p.A58V|NPR3_ENST00000434067.2_Missense_Mutation_p.A58V NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 274 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) ATGCTGGTGGCGCACAGGCAT 0.532000 23 25 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71871141 71871141 + Missense_Mutation SNP G G A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr2:71871141G>A ENST00000258104.3 + 41 4734 c.4457G>A c.(4456-4458)gGg>gAg p.G1486E DYSF_ENST00000413539.2_Missense_Mutation_p.G1517E|DYSF_ENST00000409366.1_Missense_Mutation_p.G1508E|DYSF_ENST00000409651.1_Missense_Mutation_p.G1518E|DYSF_ENST00000409582.3_Missense_Mutation_p.G1524E|DYSF_ENST00000394120.2_Missense_Mutation_p.G1487E|DYSF_ENST00000409744.1_Missense_Mutation_p.G1494E|DYSF_ENST00000410041.1_Missense_Mutation_p.G1504E|DYSF_ENST00000409762.1_Missense_Mutation_p.G1503E|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Missense_Mutation_p.G1525E|DYSF_ENST00000429174.2_Missense_Mutation_p.G1507E NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1486 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GCCTCCATAGGGGAGAGGGAA 0.512000 4 9 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223178729 223178729 + Silent SNP G G A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr1:223178729G>A ENST00000284476.6 + 8 4154 c.3990G>A c.(3988-3990)acG>acA p.T1330T NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1330 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity p.T1330T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) ACCCCATCACGCACATCCACC 0.557000 8 38 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 27 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 29 0 0 1 0 0 DAK 26007 broad.mit.edu 37 11 61109956 61109956 + Missense_Mutation SNP C C T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr11:61109956C>T ENST00000394900.3 + 8 908 c.679C>T c.(679-681)Cgc>Tgc p.R227C NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 227 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 AGCTGGTGTGCGCCGGATAAA 0.592000 4 120 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228511247 228511247 + Missense_Mutation SNP C C T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr1:228511247C>T ENST00000570156.2 + 67 18537 c.18463C>T c.(18463-18465)Cgc>Tgc p.R6155C OBSCN_ENST00000422127.1_Missense_Mutation_p.R5198C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5198C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2832C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2317C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5198 Ig-like 53. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGCGTCTACCGCTGCCTGGC 0.572000 7 5 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44575860 44575860 + Missense_Mutation SNP C C T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr7:44575860C>T ENST00000289547.4 - 4 1904 c.1849G>A c.(1849-1851)Gct>Act p.A617T NPC1L1_ENST00000381160.3_Missense_Mutation_p.A617T|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A617T|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A617T NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 617 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CCTACCTCAGCCATGAACGTG 0.637000 4 68 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64404570 64404570 + Missense_Mutation SNP C C T rs139681301 TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr6:64404570C>T ENST00000262043.3 + 6 2936 c.2596C>T c.(2596-2598)Cgg>Tgg p.R866W PHF3_ENST00000393387.1_Missense_Mutation_p.R866W Q92576 PHF3_HUMAN PHD finger protein 3 866 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding p.R866R(1) breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AGTTTTACCTCGGAGATCCTC 0.403000 6 168 0 0 1 0 0 GRWD1 83743 broad.mit.edu 37 19 48953645 48953645 + Missense_Mutation SNP C C T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr19:48953645C>T ENST00000253237.5 + 4 777 c.544C>T c.(544-546)Cgg>Tgg p.R182W NM_031485.3 NP_113673.3 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 182 nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) TGCGCTGCGGCGGCTTCTGCA 0.647000 10 21 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544148 23544148 + Missense_Mutation SNP G G C TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr19:23544148G>C ENST00000300619.7 - 4 1838 c.1633C>G c.(1633-1635)Ccc>Gcc p.P545A ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P513A NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 545 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CATTTGTAGGGTTTCTCTCTA 0.328000 11 30 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109815272 109815272 + Missense_Mutation SNP G G A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr1:109815272G>A ENST00000271332.3 + 30 8126 c.8065G>A c.(8065-8067)Gca>Aca p.A2689T CELSR2_ENST00000498157.1_3'UTR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2689 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GGAGGAGTCCGCACTGAACCC 0.647000 3 23 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 3 56 0.004672 0.004672 1 1 0 ATP7A 538 broad.mit.edu 37 X 77267107 77267107 + Missense_Mutation SNP G G A rs2234936 TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chrX:77267107G>A ENST00000341514.6 + 9 2263 c.2108G>A c.(2107-2109)cGc>cAc p.R703H ATP7A_ENST00000343533.5_Missense_Mutation_p.R703H|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 703 R -> H (in dbSNP:rs2234936). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TTCCTGGAGCGCCAGATTCTT 0.353000 5 200 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890648 55890648 + Missense_Mutation SNP C C T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr11:55890648C>T ENST00000313472.3 + 1 800 c.800C>T c.(799-801)tCc>tTc p.S267F NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) AAGTCTTATTCCTTGGGAAGA 0.378000 29 108 0 0 1 0 0 AC093838.4 0 broad.mit.edu 37 2 132276650 132276650 + RNA SNP G G C rs28712373 by1000genomes TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr2:132276650G>C ENST00000438378.2 + 0 1970 NR_026922.1 GCTCATCACAGAGGCCAAACA 0.632000 5 19 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16941019 16941019 + Silent SNP T T C TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr10:16941019T>C ENST00000377833.4 - 54 8639 c.8574A>G c.(8572-8574)ggA>ggG p.G2858G NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2858 CUB 21. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCTGACATTGTCCATCACCGC 0.403000 38 73 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10943011 10943011 + Missense_Mutation SNP A A T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr21:10943011A>T ENST00000298232.7 - 11 889 c.522T>A c.(520-522)caT>caA p.H174Q TPTE_ENST00000342420.5_Missense_Mutation_p.H154Q|TPTE_ENST00000361285.4_Missense_Mutation_p.H192Q|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 192 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTCGAAGTAAATGTGTCCATC 0.328000 10 64 0 0 1 0 0 VGLL2 245806 broad.mit.edu 37 6 117593623 117593623 + Missense_Mutation SNP G G A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr6:117593623G>A ENST00000326274.5 + 4 1110 c.920G>A c.(919-921)cGt>cAt p.R307H VGLL2_ENST00000352536.3_Missense_Mutation_p.R133H NM_182645.2 NP_872586.1 Q8N8G2 VGLL2_HUMAN vestigial like 2 (Drosophila) 307 transcription, DNA-dependent nucleus central_nervous_system(1)|kidney(1)|lung(3) 5 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) GCAGCTCGTCGTTATTCCCTC 0.532000 102 206 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 20 44 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36104728 36104728 + Missense_Mutation SNP G G T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr17:36104728G>T ENST00000225893.4 - 1 509 c.148C>A c.(148-150)Cct>Act p.P50T HNF1B_ENST00000561193.1_Missense_Mutation_p.P50T|HNF1B_ENST00000560016.1_Missense_Mutation_p.P50T|HNF1B_ENST00000427275.2_Missense_Mutation_p.P50T NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 50 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) CCGCTGCCAGGGGACAGGGGC 0.682000 10 25 7.48243e-07 7.96003e-07 1 1 0 ECT2L 345930 broad.mit.edu 37 6 139186182 139186182 + Missense_Mutation SNP C C G TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr6:139186182C>G ENST00000423192.1 + 11 1502 c.1341C>G c.(1339-1341)atC>atG p.I447M ECT2L_ENST00000367682.2_Missense_Mutation_p.I447M|ECT2L_ENST00000541398.1_Missense_Mutation_p.I378M|ECT2L_ENST00000495970.1_3'UTR Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 447 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 CCTCTTCCATCTACTTCTGCG 0.453000 """N, Splice, Mis""" ETP ALL 9 27 0 0 1 0 0 HUS1B 135458 broad.mit.edu 37 6 656483 656483 + Silent SNP G G A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr6:656483G>A ENST00000380907.2 - 1 480 c.462C>T c.(460-462)gaC>gaT p.D154D EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 154 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) GGATGCTCGCGTCGGAGGCGC 0.701000 18 57 0 0 1 0 0 DPP4 1803 broad.mit.edu 37 2 162881325 162881325 + Missense_Mutation SNP T T C TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr2:162881325T>C ENST00000360534.3 - 11 1572 c.1012A>G c.(1012-1014)Aac>Gac p.N338D NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 338 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) ACTAAGCAGTTCCATCTTCCA 0.463000 84 113 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32907209 32907209 + Missense_Mutation SNP G G A rs138734772 TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr13:32907209G>A ENST00000544455.1 + 10 1821 c.1594G>A c.(1594-1596)Gaa>Aaa p.E532K BRCA2_ENST00000380152.3_Missense_Mutation_p.E532K NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 532 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CTTTAAAAAAGAAACTGAAGC 0.368000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 36 105 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160851959 160851959 + Missense_Mutation SNP T T C TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr1:160851959T>C ENST00000326245.3 - 4 308 c.193A>G c.(193-195)Atc>Gtc p.I65V NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 65 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GTCTGGTAGATAACACCATTC 0.577000 4 37 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158450457 158450457 + Missense_Mutation SNP C C T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr1:158450457C>T ENST00000368152.1 + 1 790 c.790C>T c.(790-792)Cac>Tac p.H264Y RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) CTGCGCCTCTCACCTCAGTGT 0.478000 22 39 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74595107 74595107 + Missense_Mutation SNP C C T rs140523637 TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr2:74595107C>T ENST00000361874.3 - 17 2323 c.2006G>A c.(2005-2007)cGc>cAc p.R669H DCTN1_ENST00000407639.2_Missense_Mutation_p.R535H|DCTN1_ENST00000409567.3_Missense_Mutation_p.R649H|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Missense_Mutation_p.R662H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R632H|DCTN1_ENST00000409868.1_Missense_Mutation_p.R652H|DCTN1_ENST00000409438.1_Missense_Mutation_p.R535H NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 669 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 CTGCTCATAGCGGTGTAGCGT 0.617000 7 24 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97821950 97821950 + Missense_Mutation SNP T T G TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr7:97821950T>G ENST00000297293.5 + 11 2466 c.2173T>G c.(2173-2175)Ttt>Gtt p.F725V NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 725 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) AAACTTTTTATTTCTTCAAGA 0.328000 12 59 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136901336 136901336 + Missense_Mutation SNP T T C TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr9:136901336T>C ENST00000303407.7 - 10 1939 c.1754A>G c.(1753-1755)aAc>aGc p.N585S BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 585 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) GGGCAGCCGGTTGATGTCCAG 0.592000 T C15orf55 lethal midline carcinoma of young people 9 20 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65871611 65871611 + Silent SNP G G A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr1:65871611G>A ENST00000395325.3 + 16 2272 c.2115G>A c.(2113-2115)ccG>ccA p.P705P DNAJC6_ENST00000371069.4_Silent_p.P762P|DNAJC6_ENST00000263441.7_Silent_p.P692P NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 705 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 GAGGATTCCCGCCTCTCAGCT 0.537000 19 6 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178427644 178427644 + Missense_Mutation SNP A A G TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr1:178427644A>G ENST00000448150.3 + 14 4002 c.3184A>G c.(3184-3186)Aaa>Gaa p.K1062E RASAL2_ENST00000367649.3_Missense_Mutation_p.K1073E|RASAL2_ENST00000462775.1_Missense_Mutation_p.K932E NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 932 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CCCTGTTCCCAAAGTTAGAGC 0.562000 22 35 0 0 1 0 0 NDUFB5 4711 broad.mit.edu 37 3 179336258 179336258 + Missense_Mutation SNP A A G TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr3:179336258A>G ENST00000493866.1 + 3 267 c.242A>G c.(241-243)tAt>tGt p.Y81C NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Missense_Mutation_p.Y121C|NDUFB5_ENST00000259037.3_Missense_Mutation_p.Y133C NM_001199957.1 NP_001186886.1 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa 133 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) GAAAAGATATATGAAAGAACA 0.378000 9 25 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81503360 81503360 + Silent SNP C C T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr12:81503360C>T ENST00000548058.1 + 2 1243 c.333C>T c.(331-333)aaC>aaT p.N111N ACSS3_ENST00000261206.3_Silent_p.N110N|RP11-543H12.1_ENST00000547123.1_RNA Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 111 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GAATGCTTAACATTTGTTACA 0.313000 16 24 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41798681 41798681 + Silent SNP T T C TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr8:41798681T>C ENST00000396930.3 - 16 3261 c.2718A>G c.(2716-2718)tcA>tcG p.S906S KAT6A_ENST00000406337.1_Silent_p.S906S|KAT6A_ENST00000265713.2_Silent_p.S906S NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 906 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGGTGGCTTCTGATTTCTCCC 0.483000 20 35 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 211019256 211019256 + Silent SNP A A G TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr2:211019256A>G ENST00000281772.9 - 2 314 c.51T>C c.(49-51)tcT>tcC p.S17S KANSL1L_ENST00000452086.1_Silent_p.S17S|KANSL1L_ENST00000418791.1_Silent_p.S17S|KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000457374.1_Silent_p.S17S NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 17 TACTTGGCAAAGATGAAAAGC 0.423000 5 94 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637377 248637377 + Silent SNP C C T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr1:248637377C>T ENST00000359594.2 + 1 751 c.726C>T c.(724-726)gcC>gcT p.A242A NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACAGGAAGGCCTTGGCCACCT 0.567000 79 108 0 0 1 0 0 ACSL4 2182 broad.mit.edu 37 X 108911384 108911384 + Missense_Mutation SNP T T C TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chrX:108911384T>C ENST00000340800.2 - 12 1888 c.1384A>G c.(1384-1386)Att>Gtt p.I462V ACSL4_ENST00000469796.2_Missense_Mutation_p.I462V|ACSL4_ENST00000348502.6_Missense_Mutation_p.I421V NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 462 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) CCCTGGCCAATTGGGCAGCAG 0.498000 5 104 0 0 1 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806631 97806631 + Silent SNP T T A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr3:97806631T>A ENST00000358642.2 + 1 615 c.615T>A c.(613-615)ggT>ggA p.G205G NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 TTATTTTTGGTGCTTTTATAC 0.299000 17 19 0 0 1 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18158872 18158872 + Silent SNP G G A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr11:18158872G>A ENST00000396275.2 + 3 484 c.123G>A c.(121-123)gcG>gcA p.A41A NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 41 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CCCTTGTCGCGCTGACAGGAA 0.592000 4 110 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122812878 122812878 + Missense_Mutation SNP T T C TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr12:122812878T>C ENST00000358808.2 - 15 3084 c.2930A>G c.(2929-2931)cAg>cGg p.Q977R CLIP1_ENST00000540338.1_Missense_Mutation_p.Q988R|CLIP1_ENST00000302528.7_Missense_Mutation_p.Q977R|CLIP1_ENST00000361654.4_Missense_Mutation_p.Q866R|CLIP1_ENST00000545889.1_Missense_Mutation_p.Q563R|CLIP1_ENST00000537178.1_Missense_Mutation_p.Q942R NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 988 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TTGCTGGCTCTGTTCAGCTTT 0.403000 106 143 0 0 1 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47287286 47287286 + Missense_Mutation SNP G G A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr22:47287286G>A ENST00000337137.4 + 6 999 c.833G>A c.(832-834)aGg>aAg p.R278K TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R200K|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R231K|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R219K|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R231K NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 278 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GACACATACAGGCAGGTGGGA 0.403000 4 90 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433683 69433683 + Missense_Mutation SNP G G A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr4:69433683G>A ENST00000317746.2 - 1 562 c.520C>T c.(520-522)Cgc>Tgc p.R174C NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 174 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 ACAGAGAAGCGGAGACTGTAC 0.438000 10 180 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117487361 117487361 + Frame_Shift_Del DEL G G - TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr1:117487361delG ENST00000393203.2 + 3 626 c.479delG c.(478-480)cgfs p.R160fs NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 160 Ig-like C2-type 2. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CTGAGCCTGCGGGAGGGGGAG 0.751 2 4 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67589156 67589158 + In_Frame_Del DEL AAA AAA - TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr5:67589156_67589158delAAA ENST00000521381.1 + 10 1760_1762 c.1144_1146delAAA c.(1144-1146)del p.K382del PIK3R1_ENST00000396611.1_In_Frame_Del_p.K382del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K382del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K382del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K112del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.K19del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K82del NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 382 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CAAATTAATCAAAATATTTCATC 0.320 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 32 84 --- --- --- --- SMAP1 60682 broad.mit.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr6:71508370delA ENST00000370455.3 + 6 754 c.506delA c.(505-507)gafs p.E169fs SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 aaagaaaaggaaaaaaaaaag 0.289 2 4 --- --- --- --- TRAV12-2 0 broad.mit.edu 37 14 22356275 22356276 + RNA INS - - T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr14:22356275_22356276insT ENST00000390437.2 + 0 154 TAGAAGCATGATTTTTTTTCTA 0.396 5 8 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr16:85682289_85682290insC ENST00000253458.7 + 3 534_535 c.358_359insC c.(358-360)cccfs p.P120fs GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P16fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P47fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.V123fs*2(1) CGTGCCCAGCACCCCCCCCGTG 0.688 8 79 --- --- --- --- TGIF1 7050 broad.mit.edu 37 18 3452222 3452223 + Frame_Shift_Del DEL CT CT - rs11571510 by1000genomes TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr18:3452222_3452223delCT ENST00000330513.5 + 1 548_549 c.245_246delCT c.(244-246)cfs p.P85fs TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000343820.5_Intron NM_170695.2 NP_733796.2 Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 85 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.P83fs*51(1) cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) TGCGCCCCCCCTCCTCCACCGG 0.762 6 13 --- --- --- --- HMGXB4 10042 broad.mit.edu 37 22 35659135 35659136 + Frame_Shift_Ins INS - - A rs79846609 TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr22:35659135_35659136insA ENST00000216106.5 + 3 224_225 c.96_97insA c.(94-99)gaaaaafs p.EK32fs HMGXB4_ENST00000444518.2_5'UTR NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 32 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCCAACGAGAGAAAAAACGTTC 0.401 14 50 --- --- --- --- DNAJB7 150353 broad.mit.edu 37 22 41257114 41257115 + Frame_Shift_Ins INS - - T TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f448f47-6b2f-403e-a474-bb14061167ad 808487c7-959f-429c-a322-da3d1f6c07c8 g.chr22:41257114_41257115insT ENST00000307221.4 - 1 1015_1016 c.884_885insA c.(883-885)aaafs p.K295fs XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 295 Poly-Lys. protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 CTTTACGCTTCTTTTTTTTCCT 0.381 29 85 --- --- --- ---