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 TRIB1 10221 broad.mit.edu 37 8 126445604 126445604 + Nonsense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr8:126445604C>T ENST00000311922.3 + 2 988 c.406C>T c.(406-408)Cag>Tag p.Q136* TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000521778.1_3'UTR NM_025195.2 NP_079471.1 Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 136 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity p.Q136*(1) NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) GCCTTACATCCAGCTGCCATC 0.512000 6 205 0 0 0.029380 0 0 TRAP1 10131 broad.mit.edu 37 16 3725361 3725361 + Silent SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr16:3725361G>A ENST00000575671.1 - 3 954 c.225C>T c.(223-225)ccC>ccT p.P75P TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000246957.5_Silent_p.P284P|TRAP1_ENST00000538171.1_Silent_p.P231P Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 284 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding p.P284P(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(90;0.0261) TCAAGTACAAGGGGAAGCTGA 0.483000 6 28 0 0 0.029380 0 0 KMT2C 58508 broad.mit.edu 37 7 151849821 151849821 + Missense_Mutation SNP C C A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr7:151849821C>A ENST00000355193.2 - 50 12884 c.12666G>T c.(12664-12666)caG>caT p.Q4222H KMT2C_ENST00000262189.6_Missense_Mutation_p.Q4165H lysine (K)-specific methyltransferase 2C p.Q4165H(1)|p.Q4222H(1) GTACATTAGGCTGCTTCAGCC 0.473000 16 88 3.52763e-06 3.90225e-06 0.033300 1 0 ATXN1 6310 broad.mit.edu 37 6 16327538 16327538 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr6:16327538C>T ENST00000244769.4 - 8 1940 c.1004G>A c.(1003-1005)gGg>gAg p.G335E ATXN1_ENST00000436367.1_Missense_Mutation_p.G335E NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 335 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.G335E(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GGACGGGGCCCCGTACCGCCG 0.682000 21 70 0 0 0.055883 0 0 MYO16 23026 broad.mit.edu 37 13 109496821 109496821 + Missense_Mutation SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr13:109496821G>A ENST00000356711.2 + 10 1288 c.1162G>A c.(1162-1164)Ggt>Agt p.G388S MYO16_ENST00000357550.2_Missense_Mutation_p.G388S|MYO16_ENST00000251041.5_Missense_Mutation_p.G388S NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 388 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.G388S(2) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CATGATGAGCGGTTCCACCAA 0.388000 7 43 0 0 0.047766 0 0 CDK12 51755 broad.mit.edu 37 17 37687195 37687195 + Missense_Mutation SNP G G C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr17:37687195G>C ENST00000447079.4 + 14 4132 c.4099G>C c.(4099-4101)Gtc>Ctc p.V1367L CDK12_ENST00000430627.2_Missense_Mutation_p.V1358L NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1367 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.V1367L(1) NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AGAATCCTTGGTCCAGACCCT 0.537000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 9 38 0 0 0.047766 0 0 TMEM216 51259 broad.mit.edu 37 11 61161357 61161357 + Splice_Site SNP T T G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr11:61161357T>G ENST00000515837.2 + 3 1083 c.136_splice c.e3-1 p.G46_splice TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice Q9P0N5 TM216_HUMAN transmembrane protein 216 39 integral to membrane p.G46G(3) endometrium(1)|large_intestine(2)|lung(1)|prostate(2) 6 TATTGGCAGGTGTCCTGCTAC 0.438000 8 16 0 0 0.038395 0 0 ABLIM3 22885 broad.mit.edu 37 5 148626096 148626096 + Missense_Mutation SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr5:148626096G>A ENST00000506113.1 + 16 2020 c.1538G>A c.(1537-1539)cGc>cAc p.R513H RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000517451.1_5'UTR|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R402H|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R418H|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R513H|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R402H|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R480H O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 513 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding p.R513H(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATTTTGACCGCAGCATGCAC 0.493000 3 48 0 0 0.009096 0 0 STK11 6794 broad.mit.edu 37 19 1220717 1220717 + Splice_Site SNP G G T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr19:1220717G>T ENST00000326873.7 + 5 1907 c.e5+1 NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(6) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTCACCCTGTAAGTGCCCC 0.711000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 7 22 0.0381472 0.0387675 0.038147 1 0 CREBBP 1387 broad.mit.edu 37 16 3817765 3817765 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr16:3817765C>T ENST00000262367.5 - 16 4015 c.3206G>A c.(3205-3207)gGc>gAc p.G1069D CREBBP_ENST00000382070.3_Missense_Mutation_p.G1031D NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1069 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.G1069D(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AGAGGCTGTGCCGTTACTGCT 0.428000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 4 113 0 0 0.009096 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85449827 85449827 + Missense_Mutation SNP A A C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:85449827A>C ENST00000393217.2 + 8 1317 c.1256A>C c.(1255-1257)aAg>aCg p.K419T NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 419 p.K419T(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TCAAATGATAAGGGTGATATA 0.318000 15 95 0 0 0.146539 0 0 COQ9 57017 broad.mit.edu 37 16 57490845 57490845 + Missense_Mutation SNP A A G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr16:57490845A>G ENST00000262507.6 + 5 593 c.524A>G c.(523-525)aAg>aGg p.K175R COQ9_ENST00000567933.1_Intron|COQ9_ENST00000567072.1_Intron NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 175 ubiquinone biosynthetic process mitochondrion p.K175R(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 TCTTCCAGGAAGAGGAAGACA 0.537000 8 23 0 0 0.038147 0 0 ANKRD26 22852 broad.mit.edu 37 10 27329051 27329051 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr10:27329051C>T ENST00000376087.4 - 21 2383 c.2218G>A c.(2218-2220)Gaa>Aaa p.E740K ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297K NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 739 centrosome p.E740K(1) breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TTTTTAAGTTCTAATAATCTT 0.299000 10 32 0 0 0.058154 0 0 NLGN2 57555 broad.mit.edu 37 17 7315483 7315483 + Silent SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr17:7315483C>T ENST00000302926.2 + 2 538 c.465C>T c.(463-465)ctC>ctT p.L155L NLGN2_ENST00000575301.1_Silent_p.L155L NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 155 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity p.L155L(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) TAGGTCCGCTCACAAAAAAAC 0.522000 12 23 0 0 0.093190 0 0 OR8H3 390152 broad.mit.edu 37 11 55890333 55890333 + Missense_Mutation SNP C C A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr11:55890333C>A ENST00000313472.3 + 1 485 c.485C>A c.(484-486)tCc>tAc p.S162Y NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S162Y(1)|p.S162F(1) 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) AATGTGGTTTCCATGAGCAGA 0.438000 34 155 1.36615e-20 1.642e-20 0.054565 1 0 AHNAK2 113146 broad.mit.edu 37 14 105413727 105413727 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr14:105413727C>T ENST00000333244.5 - 7 8180 c.8061G>A c.(8059-8061)atG>atA p.M2687I AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2687 nucleus p.M2687I(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGTCCCCTTGCATGGAGGGGA 0.607000 9 167 0 0 0.058154 0 0 WDR90 197335 broad.mit.edu 37 16 715599 715599 + Missense_Mutation SNP G G T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr16:715599G>T ENST00000547944.1 + 1 416 c.29G>T c.(28-30)gGg>gTg p.G10V WDR90_ENST00000315764.4_Missense_Mutation_p.G10V|WDR90_ENST00000293879.4_Intron|WDR90_ENST00000547543.1_Intron|WDR90_ENST00000549091.1_Intron Q96KV7 WDR90_HUMAN WD repeat domain 90 1022 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CCCGGCCCTGGGGGCTGGAAT 0.647000 7 30 0.00198382 0.0021015 0.029380 1 0 KLF11 8462 broad.mit.edu 37 2 10192429 10192429 + Missense_Mutation SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr2:10192429G>A ENST00000535335.1 + 4 1499 c.1283G>A c.(1282-1284)cGc>cAc p.R428H KLF11_ENST00000540845.1_Missense_Mutation_p.R428H|KLF11_ENST00000305883.1_Missense_Mutation_p.R445H NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 445 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.R445H(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) TCACGCCACCGCAGAACTCAC 0.537000 4 63 0 0 0.009096 0 0 COQ10A 93058 broad.mit.edu 37 12 56664024 56664024 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:56664024C>T ENST00000308197.5 + 5 928 c.667C>T c.(667-669)Cgt>Tgt p.R223C COQ10A_ENST00000546544.1_Missense_Mutation_p.R206C|COQ10A_ENST00000433805.2_Missense_Mutation_p.R191C NM_144576.3 NP_653177.3 Q96MF6 CQ10A_HUMAN coenzyme Q10 homolog A (S. cerevisiae) 223 mitochondrial inner membrane p.R223C(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 8 TGCCTTTGAGCGTCGGGCAGC 0.517000 4 113 0 0 0.009096 0 0 NMUR2 56923 broad.mit.edu 37 5 151775143 151775143 + Missense_Mutation SNP C C A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr5:151775143C>A ENST00000255262.3 - 3 979 c.814G>T c.(814-816)Gtc>Ttc p.V272F NMUR2_ENST00000518933.1_5'UTR NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 272 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity p.V272F(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) AAGACCAAGACAACTGAAAAT 0.458000 4 11 0.00024832 0.000267586 0.009096 1 0 ASCL3 56676 broad.mit.edu 37 11 8959615 8959615 + Nonsense_Mutation SNP C C A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr11:8959615C>A ENST00000325884.1 - 2 153 c.94G>T c.(94-96)Gag>Tag p.E32* ASCL3_ENST00000531618.1_Nonsense_Mutation_p.E32* NM_020646.1 NP_065697.1 Q9NQ33 ASCL3_HUMAN achaete-scute family bHLH transcription factor 3 31 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding p.E32*(1) breast(1)|large_intestine(2)|lung(5)|stomach(1) 9 Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228) ACCATGGGCTCCAGATAGAAG 0.547000 7 119 1.12685e-05 1.23558e-05 0.047766 1 0 WDR11 55717 broad.mit.edu 37 10 122622304 122622304 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr10:122622304C>T ENST00000263461.6 + 5 830 c.584C>T c.(583-585)tCa>tTa p.S195L NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 195 integral to membrane p.S195L(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 AAGCCTCCCTCAGGCCCTGGG 0.443000 7 145 0 0 0.047766 0 0 KEAP1 9817 broad.mit.edu 37 19 10602796 10602796 + Missense_Mutation SNP C C G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr19:10602796C>G ENST00000171111.5 - 3 1329 c.782G>C c.(781-783)cGg>cCg p.R261P KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.R261P NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 261 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.R261P(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GACGTAGAACCGTCGCTGTTC 0.632000 13 36 0 0 0.132662 0 0 P2RY6 5031 broad.mit.edu 37 11 73007896 73007896 + Silent SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr11:73007896C>T ENST00000393590.2 + 2 632 c.333C>T c.(331-333)caC>caT p.H111H P2RY6_ENST00000540124.1_Silent_p.H111H|P2RY6_ENST00000349767.2_Silent_p.H111H|P2RY6_ENST00000393592.2_Silent_p.H111H|P2RY6_ENST00000540342.1_Silent_p.H111H|P2RY6_ENST00000393591.1_Silent_p.H111H|P2RY6_ENST00000542092.1_Silent_p.H111H|P2RY6_ENST00000538328.1_Silent_p.H111H NM_001277207.1|NM_001277208.1 NP_001264136.1|NP_001264137.1 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 6 111 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.H111H(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2) 14 CCAACCTGCACGGCAGCATCC 0.647000 14 106 0 0 0.146539 0 0 SLC27A3 11000 broad.mit.edu 37 1 153748035 153748035 + Missense_Mutation SNP A A G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:153748035A>G ENST00000271857.2 + 1 1206 c.446A>G c.(445-447)cAc>cGc p.H149R SLC27A3_ENST00000368661.3_Missense_Mutation_p.H68R|SLC27A3_ENST00000484014.1_Intron Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 68 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding p.H68R(1) NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ctgAAGCTACACCTCTGGCCG 0.667000 7 13 0 0 0.029380 0 0 MRPL45P2 653479 broad.mit.edu 37 17 45569830 45569830 + RNA SNP T T C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr17:45569830T>C ENST00000575291.1 - 0 6 TGCCATCTTGTTCCCGCAAAG 0.587000 5 43 0 0 0.021553 0 0 FAM3D 131177 broad.mit.edu 37 3 58629398 58629398 + Missense_Mutation SNP G G T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr3:58629398G>T ENST00000358781.2 - 6 623 c.313C>A c.(313-315)Ctg>Atg p.L105M NM_138805.2 NP_620160.1 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D 105 negative regulation of insulin secretion extracellular region cytokine activity p.L105M(1) large_intestine(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) CCATTCACCAGGGCGATGTTT 0.498000 10 39 1.08611e-07 1.22309e-07 0.080935 1 0 RCAN1 1827 broad.mit.edu 37 21 35898979 35898979 + Silent SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr21:35898979G>A ENST00000381132.2 - 1 282 c.69C>T c.(67-69)ttC>ttT p.F23F RCAN1_ENST00000487990.1_Intron|RCAN1_ENST00000443408.2_Intron|RCAN1_ENST00000489903.1_Intron|RCAN1_ENST00000399272.1_Intron|RCAN1_ENST00000313806.4_Intron|RCAN1_ENST00000481448.1_5'UTR NM_203418.1 NP_981963.1 P53805 RCAN1_HUMAN regulator of calcineurin 1 78 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.F23F(1) breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 CACTTTCGCTGAAGATATCAC 0.383000 10 24 0 0 0.093190 0 0 PNLDC1 154197 broad.mit.edu 37 6 160239658 160239658 + Missense_Mutation SNP A A C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr6:160239658A>C ENST00000275275.5 + 16 1367 c.1196A>C c.(1195-1197)aAc>aCc p.N399T PNLDC1_ENST00000392167.3_Missense_Mutation_p.N410T NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 399 integral to membrane|nucleus nucleic acid binding p.N399T(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) AACCAAGTGAACCTCATCCGA 0.572000 7 34 0 0 0.069234 0 0 OR2W3 343171 broad.mit.edu 37 1 248059023 248059023 + Missense_Mutation SNP C C G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:248059023C>G ENST00000537741.1 + 3 392 c.135C>G c.(133-135)atC>atG p.I45M OR2W3_ENST00000360358.3_Missense_Mutation_p.I45M Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I45M(1) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACACCACCATCATCCTGGTGT 0.582000 7 124 0 0 0.038147 0 0 PTH1R 5745 broad.mit.edu 37 3 46937261 46937261 + Missense_Mutation SNP C C A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr3:46937261C>A ENST00000313049.5 + 3 418 c.215C>A c.(214-216)gCg>gAg p.A72E PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Missense_Mutation_p.A72E|PTH1R_ENST00000430002.2_Missense_Mutation_p.A72E|PTH1R_ENST00000418619.1_Missense_Mutation_p.A72E Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 72 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association p.A72E(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 TGGACATCTGCGTCCACATCA 0.552000 OREG0015543 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 31 0.00307968 0.00323496 0.038147 1 0 ACACA 31 broad.mit.edu 37 17 35512644 35512644 + Missense_Mutation SNP G G C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr17:35512644G>C ENST00000353139.5 - 43 5889 c.5408C>G c.(5407-5409)tCt>tGt p.S1803C ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000360679.3_Missense_Mutation_p.S1708C|ACACA_ENST00000335166.5_Missense_Mutation_p.S1688C|ACACA_ENST00000394406.2_Missense_Mutation_p.S1766C NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1766 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.S1708C(1)|p.S1803C(1) NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) ACAATGGACAGAGTTGAGAGC 0.353000 22 94 0 0 0.099896 0 0 C10orf90 118611 broad.mit.edu 37 10 128193152 128193152 + Missense_Mutation SNP C C T rs148312578 TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr10:128193152C>T ENST00000284694.7 - 3 737 c.617G>A c.(616-618)cGg>cAg p.R206Q C10orf90_ENST00000544758.1_Missense_Mutation_p.R303Q|C10orf90_ENST00000392694.1_Missense_Mutation_p.R159Q|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.R159Q|C10orf90_ENST00000454341.1_Missense_Mutation_p.R206Q NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 206 p.R206Q(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) AACCTTCAGCCGCACCACGGA 0.592000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 76 0 0 0.080935 0 0 MOCOS 55034 broad.mit.edu 37 18 33779985 33779985 + Silent SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr18:33779985G>A ENST00000261326.5 + 4 660 c.639G>A c.(637-639)ctG>ctA p.L213L NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 213 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding p.L213L(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) GATACCCCCTGTCCTGGATAG 0.577000 13 40 0 0 0.119110 0 0 TSNAX 7257 broad.mit.edu 37 1 231700631 231700631 + Missense_Mutation SNP C C G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:231700631C>G ENST00000366639.4 + 6 1011 c.853C>G c.(853-855)Caa>Gaa p.Q285E TRAX_ENST00000602962.1_Intron NM_005999.2 NP_005990.1 Q99598 TSNAX_HUMAN translin-associated factor X 285 cell differentiation|multicellular organismal development|spermatogenesis nucleus|perinuclear region of cytoplasm protein transporter activity|sequence-specific DNA binding p.Q285E(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116) AATGATAGATCAAGAAGAGGG 0.333000 6 41 0 0 0.029380 0 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr17:7577085C>T ENST00000420246.2 - 8 985 c.853G>A c.(853-855)Gag>Aag p.E285K TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTCTTCCTCTGTGCGCCGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 25 0 0 0.093190 0 0 CHD5 26038 broad.mit.edu 37 1 6203888 6203888 + Missense_Mutation SNP C C A rs139532134 TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:6203888C>A ENST00000262450.3 - 13 2137 c.2038G>T c.(2038-2040)Gtg>Ttg p.V680L CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 680 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding p.V680L(1) breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTCACGTCCACAATGGGCGTG 0.617000 5 39 8.12818e-05 8.83498e-05 0.029380 1 0 NRD1 4898 broad.mit.edu 37 1 52283748 52283748 + Nonsense_Mutation SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:52283748G>A ENST00000354831.7 - 12 1744 c.1555C>T c.(1555-1557)Caa>Taa p.Q519* NRD1_ENST00000544028.1_Nonsense_Mutation_p.Q319*|NRD1_ENST00000352171.7_Nonsense_Mutation_p.Q451*|NRD1_ENST00000539524.1_Nonsense_Mutation_p.Q387*|NRD1_ENST00000485608.1_5'UTR NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 450 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding p.Q519*(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 CTGTAATGTTGCTGTTGAGGA 0.348000 3 22 0 0 0.009096 0 0 XIRP2 129446 broad.mit.edu 37 2 168106620 168106620 + Missense_Mutation SNP G G C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr2:168106620G>C ENST00000409195.1 + 9 8807 c.8718G>C c.(8716-8718)gaG>gaC p.E2906D XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2684D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2906D|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2731 actin cytoskeleton organization cell junction actin binding p.E2906D(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCATACAAGAGAAACAAGTCT 0.378000 12 77 0 0 0.080935 0 0 MBD6 114785 broad.mit.edu 37 12 57919411 57919411 + Silent SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:57919411C>T ENST00000355673.3 + 6 1016 c.660C>T c.(658-660)atC>atT p.I220I MBD6_ENST00000431731.2_Silent_p.I220I NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 220 Pro-rich. chromosome|nucleus chromatin binding|DNA binding p.I220I(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CACCTGCTATCAGCCTCAATG 0.647000 6 162 0 0 0.029380 0 0 DOK1 1796 broad.mit.edu 37 2 74784050 74784050 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr2:74784050C>T ENST00000233668.5 + 5 1924 c.1255C>T c.(1255-1257)Ccc>Tcc p.P419S DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.P280S|DOK1_ENST00000480318.1_3'UTR NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 419 Pro-rich. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding p.P419S(1) endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 GAGCACAAAGCCCCTCCTTGC 0.612000 21 129 0 0 0.069288 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686195 108686195 + Missense_Mutation SNP T T G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:108686195T>G ENST00000312143.7 - 3 908 c.545A>C c.(544-546)aAc>aCc p.N182T CMKLR1_ENST00000412676.1_Missense_Mutation_p.N182T|CMKLR1_ENST00000550402.1_Missense_Mutation_p.N182T|CMKLR1_ENST00000552995.1_Missense_Mutation_p.N180T|CMKLR1_ENST00000397688.2_Missense_Mutation_p.N180T NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 182 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.N180T(1) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 CCCATGCAGGTTGGCTGTGTC 0.562000 5 29 0 0 0.029380 0 0 IFFO1 25900 broad.mit.edu 37 12 6664536 6664536 + Silent SNP C C A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:6664536C>A ENST00000336604.4 - 1 701 c.660G>T c.(658-660)tcG>tcT p.S220S IFFO1_ENST00000396840.2_Silent_p.S220S|IFFO1_ENST00000356896.4_Silent_p.S220S NM_080730.4 NP_542768.2 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 220 intermediate filament p.S220S(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 GGTGCACCCACGACAAGCCAG 0.692000 3 49 0.115264 0.116194 0.115264 1 0 COL5A2 1290 broad.mit.edu 37 2 189950490 189950490 + Silent SNP T T C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr2:189950490T>C ENST00000374866.3 - 10 973 c.699A>G c.(697-699)gcA>gcG p.A233A NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 233 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent p.A233A(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CTGTAGGTCCTGCACCACCCT 0.393000 10 47 0 0 0.058154 0 0 ZNF252P 286101 broad.mit.edu 37 8 146220464 146220464 + RNA SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr8:146220464G>A ENST00000426361.2 - 0 245 NR_023392.1 endometrium(1) 1 TGACCAGTCTGGGGGCACTGG 0.478000 5 26 0 0 0.014758 0 0 KIAA0020 9933 broad.mit.edu 37 9 2811463 2811463 + Silent SNP C C A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr9:2811463C>A ENST00000397885.2 - 15 1739 c.1533G>T c.(1531-1533)gtG>gtT p.V511V NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 511 endoplasmic reticulum|nucleolus RNA binding p.V511V(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) GAATGTCAGACACCAACACAC 0.537000 15 87 4.75885e-15 5.6653e-15 0.033300 1 0 DSN1 79980 broad.mit.edu 37 20 35384135 35384135 + Nonsense_Mutation SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr20:35384135G>A ENST00000426836.1 - 9 1195 c.823C>T c.(823-825)Cag>Tag p.Q275* DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373745.3_Nonsense_Mutation_p.Q275*|DSN1_ENST00000373750.4_Nonsense_Mutation_p.Q275*|DSN1_ENST00000448110.1_Nonsense_Mutation_p.Q259*|DSN1_ENST00000373734.4_Nonsense_Mutation_p.Q168*|DSN1_ENST00000373740.3_Nonsense_Mutation_p.Q203* NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component 275 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding p.Q275*(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) AATATTTTCTGGTAGTCAGGT 0.398000 12 45 0 0 0.080935 0 0 PCLO 27445 broad.mit.edu 37 7 82451802 82451802 + Missense_Mutation SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr7:82451802G>A ENST00000423517.2 - 20 15137 c.14800C>T c.(14800-14802)Cgc>Tgc p.R4934C PCLO_ENST00000333891.8_Intron|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4796 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.?(4) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATTTATTTGCGTCTTTTACTT 0.488000 20 89 0 0 0.049695 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54675629 54675629 + Silent SNP A A G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:54675629A>G ENST00000546500.1 + 3 798 c.183A>G c.(181-183)acA>acG p.T61T HNRNPA1_ENST00000547276.1_Silent_p.T61T|HNRNPA1_ENST00000340913.6_Silent_p.T61T|HNRNPA1_ENST00000330752.8_Silent_p.T61T|RP11-968A15.8_ENST00000553061.1_RNA P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 61 Globular A domain.|RRM 1. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding p.T61T(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 GGTTTGTCACATATGCCACTG 0.473000 5 36 0 0 0.021553 0 0 BUB1B 701 broad.mit.edu 37 15 40500858 40500858 + Missense_Mutation SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr15:40500858G>A ENST00000287598.6 + 16 2225 c.2030G>A c.(2029-2031)cGt>cAt p.R677H BUB1B_ENST00000412359.3_Missense_Mutation_p.R691H NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 677 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity p.R677H(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) GAAGACAGTCGTGAAGCCACA 0.343000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 5 34 0 0 0.029380 0 0 FCER1A 2205 broad.mit.edu 37 1 159273855 159273855 + Missense_Mutation SNP G G C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:159273855G>C ENST00000368115.1 + 4 313 c.214G>C c.(214-216)Gaa>Caa p.E72Q FCER1A_ENST00000368114.1_Missense_Mutation_p.E39Q NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 72 Ig-like 1. integral to plasma membrane p.E72Q(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CAGCCTTTCAGAAGAGACAAA 0.363000 12 57 0 0 0.080935 0 0 MYO1C 4641 broad.mit.edu 37 17 1370595 1370595 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr17:1370595C>T ENST00000359786.5 - 31 3430 c.3106G>A c.(3106-3108)Gac>Aac p.D1036N MYO1C_ENST00000575158.1_Missense_Mutation_p.D1001N|MYO1C_ENST00000361007.2_Missense_Mutation_p.D1001N|MYO1C_ENST00000438665.2_Missense_Mutation_p.D1017N|MYO1C_ENST00000545534.2_Missense_Mutation_p.D1012N NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 1036 mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity p.D1001N(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGTGTGAAGTCAATGGTGCCA 0.632000 4 12 0 0 0.014758 0 0 ADORA1 134 broad.mit.edu 37 1 203134816 203134816 + Missense_Mutation SNP A A C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:203134816A>C ENST00000367236.4 + 3 1690 c.769A>C c.(769-771)Acc>Ccc p.T257P ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.T257P|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.T257P NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor 257 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CAACTGCATCACCCTCTTCTG 0.557000 6 62 0 0 0.099896 0 0 ARAP1 116985 broad.mit.edu 37 11 72412759 72412759 + Missense_Mutation SNP T T G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr11:72412759T>G ENST00000359373.5 - 16 3088 c.2237A>C c.(2236-2238)cAc>cCc p.H746P ARAP1_ENST00000393609.3_Missense_Mutation_p.H746P|ARAP1_ENST00000426523.1_Missense_Mutation_p.H501P|ARAP1_ENST00000429686.1_Missense_Mutation_p.H440P|ARAP1_ENST00000393605.3_Missense_Mutation_p.H506P|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Missense_Mutation_p.H746P|ARAP1_ENST00000334211.8_Missense_Mutation_p.H501P Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 746 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding p.H506P(1)|p.H746P(1) cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 GAAGCCACTGTGGCTCACGGT 0.617000 37 159 0 0 0.111260 0 0 LRRC8B 23507 broad.mit.edu 37 1 90058463 90058463 + Missense_Mutation SNP A A G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:90058463A>G ENST00000330947.2 + 6 2633 c.2273A>G c.(2272-2274)aAt>aGt p.N758S LRRC8B_ENST00000439853.1_Missense_Mutation_p.N758S|LRRC8B_ENST00000358200.4_Missense_Mutation_p.N758S|RP5-1007M22.2_ENST00000443562.1_RNA NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 758 integral to membrane p.N758S(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) CTCATTGGTAATTACCTGGAA 0.433000 25 94 0 0 0.083992 0 0 AKR1E2 83592 broad.mit.edu 37 10 4877971 4877971 + Silent SNP C C G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr10:4877971C>G ENST00000298375.7 + 4 500 c.429C>G c.(427-429)ccC>ccG p.P143P AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000334019.4_Silent_p.P143P|AKR1E2_ENST00000532248.1_Silent_p.P143P|AKR1E2_ENST00000345253.5_Silent_p.P143P NM_001040177.1 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 143 cytoplasm 1,5-anhydro-D-fructose reductase activity p.P143P(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 TGGTTATTCCCAGTGACACGG 0.567000 7 41 0 0 0.038147 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686166 108686166 + Missense_Mutation SNP T T C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:108686166T>C ENST00000312143.7 - 3 937 c.574A>G c.(574-576)Aac>Gac p.N192D CMKLR1_ENST00000412676.1_Missense_Mutation_p.N192D|CMKLR1_ENST00000550402.1_Missense_Mutation_p.N192D|CMKLR1_ENST00000552995.1_Missense_Mutation_p.N190D|CMKLR1_ENST00000397688.2_Missense_Mutation_p.N190D NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 192 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.N190D(1) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 AGGCTGAAGTTGTTGAAGCAG 0.567000 6 33 0 0 0.058154 0 0 ATP10B 23120 broad.mit.edu 37 5 160114890 160114890 + Silent SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr5:160114890C>T ENST00000327245.5 - 5 1038 c.192G>A c.(190-192)agG>agA p.R64R CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 64 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.R64R(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGGGTATCTCCTGGAGACCT 0.498000 27 127 0 0 0.116897 0 0 RAD54B 25788 broad.mit.edu 37 8 95416341 95416341 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr8:95416341C>T ENST00000336148.5 - 6 1032 c.908G>A c.(907-909)gGa>gAa p.G303E NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding p.G303E(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) GAATATGATTCCTTCTTTCTG 0.328000 Direct reversal of damage;Homologous recombination 11 31 0 0 0.080935 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136625 40136625 + Silent SNP G G T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr11:40136625G>T ENST00000278198.2 - 2 3181 c.1218C>A c.(1216-1218)ctC>ctA p.L406L LRRC4C_ENST00000527150.1_Silent_p.L406L|LRRC4C_ENST00000528697.1_Silent_p.L406L|LRRC4C_ENST00000530763.1_Silent_p.L406L Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 406 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding p.L406L(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TACCATCACTGAGCACAGCTA 0.448000 23 111 1.1804e-14 1.39198e-14 0.091800 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102500313 102500313 + Splice_Site SNP G G C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr14:102500313G>C ENST00000360184.4 + 55 10578 c.10413_splice c.e55-1 p.V3472_splice DYNC1H1_ENST00000556791.1_3'UTR NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3472 Stalk (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding p.V3472L(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TTCCTTTTAGGTAAACCGGAG 0.453000 15 58 0 0 0.132662 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167508 140167508 + Missense_Mutation SNP C C G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr5:140167508C>G ENST00000504120.2 + 1 1633 c.1633C>G c.(1633-1635)Ctg>Gtg p.L545V PCDHA1_ENST00000378133.3_Missense_Mutation_p.L545V|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 p.L545V(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGCCGCCTCTGGGCAGCAA 0.682000 4 100 0 0 0.009096 0 0 SH2D3C 10044 broad.mit.edu 37 9 130536699 130536699 + Missense_Mutation SNP A A G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr9:130536699A>G ENST00000314830.8 - 2 198 c.85T>C c.(85-87)Tcc>Ccc p.S29P NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 29 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity p.S29P(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGAGTGAAGGACCGAGGGAGG 0.512000 3 28 0 0 0.115264 0 0 DENND2C 163259 broad.mit.edu 37 1 115168247 115168247 + Missense_Mutation SNP C C G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:115168247C>G ENST00000393274.1 - 4 984 c.359G>C c.(358-360)cGg>cCg p.R120P DENND2C_ENST00000393276.3_Missense_Mutation_p.R120P|DENND2C_ENST00000393277.1_Missense_Mutation_p.R120P NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 120 p.R120P(1)|p.R120Q(1) NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTTTGACCCGAGAACATAC 0.348000 5 108 0 0 0.014758 0 0 NLRP1 22861 broad.mit.edu 37 17 5436224 5436224 + Missense_Mutation SNP G G A rs149973177 TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr17:5436224G>A ENST00000345221.3 - 11 3768 c.3214C>T c.(3214-3216)Cct>Tct p.P1072S NLRP1_ENST00000354411.3_Missense_Mutation_p.P1042S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P1042S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P1072S|NLRP1_ENST00000572272.1_Missense_Mutation_p.P1072S|NLRP1_ENST00000262467.5_Missense_Mutation_p.P1076S|NLRP1_ENST00000571307.1_5'UTR NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 1072 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding p.P1072S(2)|p.P1076S(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GTCCCCAAAGGCTTCGTATGC 0.577000 14 37 0 0 0.105934 0 0 RPH3A 22895 broad.mit.edu 37 12 113319638 113319638 + Missense_Mutation SNP C C G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:113319638C>G ENST00000389385.4 + 15 1810 c.1313C>G c.(1312-1314)cCg>cGg p.P438R RPH3A_ENST00000551052.1_Missense_Mutation_p.P434R|RPH3A_ENST00000548866.1_Missense_Mutation_p.P389R|RPH3A_ENST00000543106.2_Missense_Mutation_p.P438R|RPH3A_ENST00000447659.2_Missense_Mutation_p.P389R|RPH3A_ENST00000415485.3_Missense_Mutation_p.P438R|RPH3A_ENST00000420983.2_Missense_Mutation_p.P438R|RPH3A_ENST00000549913.2_3'UTR NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 438 C2 1. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding p.P434R(1) breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) CACCTCCTGCCGGGAGCCAGC 0.592000 4 85 0 0 0.014758 0 0 RAG1 5896 broad.mit.edu 37 11 36596221 36596221 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr11:36596221C>T ENST00000299440.5 + 2 1479 c.1367C>T c.(1366-1368)gCc>gTc p.A456V NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 456 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.A456V(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GAGCTGGAGGCCATCATGCAG 0.557000 Familial Hemophagocytic Lymphohistiocytosis 8 46 0 0 0.038147 0 0 OR5A1 219982 broad.mit.edu 37 11 59211414 59211414 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr11:59211414C>T ENST00000302030.2 + 1 798 c.773C>T c.(772-774)gCc>gTc p.A258V NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A258V(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 TTTGGGACAGCCCTTTTCGTG 0.552000 30 156 0 0 0.144211 0 0 RPE 6120 broad.mit.edu 37 2 210882212 210882212 + Missense_Mutation SNP A A G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr2:210882212A>G ENST00000359429.6 + 5 590 c.493A>G c.(493-495)Acc>Gcc p.T165A RPE_ENST00000454822.1_Missense_Mutation_p.T115A|RPE_ENST00000452025.1_Missense_Mutation_p.T165A|RPE_ENST00000445268.1_Missense_Mutation_p.T97A|RPE_ENST00000438204.2_Missense_Mutation_p.T97A|RPE_ENST00000435437.2_Missense_Mutation_p.T165A|RPE_ENST00000429907.1_Missense_Mutation_p.T97A|RPE_ENST00000429921.1_Missense_Mutation_p.T115A|RPE_ENST00000411934.2_Missense_Mutation_p.T97A|RPE_ENST00000354506.6_Missense_Mutation_p.T157A|RPE_ENST00000436630.2_Missense_Mutation_p.T115A|RPE_ENST00000540255.1_Intron NM_199229.1 NP_954699.1 Q96AT9 RPE_HUMAN ribulose-5-phosphate-3-epimerase 165 pentose-phosphate shunt cytosol metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity p.T115A(1)|p.T165A(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 9 Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431) CTGGTTGAGGACCCAGTTCCC 0.448000 4 57 0 0 0.009096 0 0 MIR146A 406938 broad.mit.edu 37 5 159912401 159912401 + RNA SNP G G T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr5:159912401G>T ENST00000385201.1 + 0 43 NR_029701.1 TCCATGGGTTGTGTCAGTGTC 0.493000 3 23 0.004672 0.00486667 0.115264 1 0 CTNNA1 1495 broad.mit.edu 37 5 138269764 138269764 + Missense_Mutation SNP A A G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr5:138269764A>G ENST00000302763.7 + 18 2797 c.2707A>G c.(2707-2709)Atg>Gtg p.M903V CTNNA1_ENST00000540387.1_Missense_Mutation_p.M533V|CTNNA1_ENST00000518825.1_3'UTR|CTNNA1_ENST00000355078.5_Missense_Mutation_p.M800V NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 903 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding p.M903V(1) NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTTCAAAGCTATGGACAGCAT 0.527000 6 30 0 0 0.021553 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713769 142713769 + RNA SNP T T C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:142713769T>C ENST00000369381.2 - 0 836 ATTTTCTTTTTCCACATTGTC 0.289000 5 41 0 0 0.014758 0 0 PHKA2 5256 broad.mit.edu 37 X 18927024 18927024 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chrX:18927024C>T ENST00000379942.4 - 21 2920 c.2255G>A c.(2254-2256)aGa>aAa p.R752K NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 752 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity p.R752K(1) NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) ATGGTCATCTCTGGGCCACTG 0.468000 26 68 0 0 0.099896 0 0 NPY5R 4889 broad.mit.edu 37 4 164272190 164272190 + Silent SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr4:164272190C>T ENST00000515560.1 + 4 2287 c.765C>T c.(763-765)atC>atT p.I255I NPY5R_ENST00000338566.3_Silent_p.I255I|NPY5R_ENST00000506953.1_Silent_p.I255I Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 255 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane p.I255I(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) ATGAGATGATCAACTTAACTC 0.383000 3 62 0 0 0.115264 0 0 MYOT 9499 broad.mit.edu 37 5 137206504 137206504 + Missense_Mutation SNP C C T rs121908457 TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr5:137206504C>T ENST00000239926.4 + 2 538 c.164C>T c.(163-165)tCc>tTc p.S55F MYOT_ENST00000509812.1_Intron|MYOT_ENST00000421631.2_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Intron NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 55 S -> F (in LGMD1A and MFM3). muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle p.S55F(1) cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTTTCTGCCTCCTCAACACTG 0.542000 17 66 0 0 0.038395 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76556003 76556003 + Silent SNP C C A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr16:76556003C>A ENST00000307431.8 + 18 2986 c.2601C>A c.(2599-2601)ccC>ccA p.P867P CNTNAP4_ENST00000476707.1_Silent_p.P871P|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.P795P|CNTNAP4_ENST00000377504.4_Silent_p.P819P NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 868 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding p.P795P(2)|p.P867P(2) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TGCAGTCACCCACCCACTTCA 0.478000 8 108 0.0381472 0.0387675 0.038147 1 0 MMP2 4313 broad.mit.edu 37 16 55522477 55522477 + Missense_Mutation SNP C C G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr16:55522477C>G ENST00000219070.4 + 6 1364 c.855C>G c.(853-855)aaC>aaG p.N285K MMP2_ENST00000437642.2_Missense_Mutation_p.N235K|MMP2_ENST00000543485.1_Missense_Mutation_p.N209K|MMP2_ENST00000570308.1_Missense_Mutation_p.N209K NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 285 Collagen-binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding p.N285K(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TGGGCGGCAACGCTGAAGGAC 0.622000 3 16 0 0 0.009096 0 0 POLK 51426 broad.mit.edu 37 5 74892989 74892989 + Missense_Mutation SNP G G T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr5:74892989G>T ENST00000241436.4 + 13 2643 c.2471G>T c.(2470-2472)aGc>aTc p.S824I POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.S734I|POLK_ENST00000352007.5_Missense_Mutation_p.S626I|POLK_ENST00000508526.1_Missense_Mutation_p.S626I NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 824 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding p.S824I(2) endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) CCCAAAGAAAGCTCCAGAAGT 0.294000 DNA polymerases (catalytic subunits) 16 76 1.02788e-11 1.18968e-11 0.033300 1 0 LSM11 134353 broad.mit.edu 37 5 157181030 157181030 + Missense_Mutation SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr5:157181030G>A ENST00000286307.5 + 3 663 c.607G>A c.(607-609)Gag>Aag p.E203K NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 203 SM 1. histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding p.E203K(1) breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGATGTGGATGAGACCTACCG 0.408000 14 40 0 0 0.132662 0 0 HMGCS2 3158 broad.mit.edu 37 1 120300051 120300051 + Missense_Mutation SNP A A T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:120300051A>T ENST00000369406.3 - 5 910 c.861T>A c.(859-861)gaT>gaA p.D287E HMGCS2_ENST00000544913.2_Missense_Mutation_p.D245E|HMGCS2_ENST00000476640.1_5'UTR NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 287 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity p.D287E(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) TGAAGGGTCGATCGCTGCCAG 0.507000 7 22 0 0 0.029380 0 0 ITSN1 6453 broad.mit.edu 37 21 35190760 35190760 + Missense_Mutation SNP A A G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr21:35190760A>G ENST00000381318.3 + 23 3205 c.2917A>G c.(2917-2919)Ata>Gta p.I973V ITSN1_ENST00000381285.4_Missense_Mutation_p.I973V|ITSN1_ENST00000381291.4_Missense_Mutation_p.I973V|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399326.3_Missense_Mutation_p.I968V|ITSN1_ENST00000437442.2_Missense_Mutation_p.I968V|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.I968V|ITSN1_ENST00000399353.1_Missense_Mutation_p.I931V|ITSN1_ENST00000399355.2_Missense_Mutation_p.I973V|ITSN1_ENST00000399367.3_Missense_Mutation_p.I968V|ITSN1_ENST00000399352.1_Missense_Mutation_p.I968V NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 973 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity p.I973V(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TTCAGGGCCCATAAGGAAGTC 0.403000 20 100 0 0 0.062417 0 0 SND1 27044 broad.mit.edu 37 7 127724820 127724820 + Missense_Mutation SNP G G T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr7:127724820G>T ENST00000354725.3 + 19 2349 c.2155G>T c.(2155-2157)Gcc>Tcc p.A719S NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 719 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity p.A719S(1) central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 CAATGACATTGCCAGTCACCC 0.562000 6 37 0.00116845 0.00124834 0.021553 1 0 LMO4 8543 broad.mit.edu 37 1 87805268 87805268 + Missense_Mutation SNP G G C TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:87805268G>C ENST00000370544.5 + 3 1066 c.286G>C c.(286-288)Gcg>Ccg p.A96P LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_Missense_Mutation_p.A96P NM_006769.3 NP_006760.1 P61968 LMO4_HUMAN LIM domain only 4 96 LIM zinc-binding 2. neural tube closure|transcription from RNA polymerase II promoter transcription factor complex sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding p.A96P(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1) 9 Lung NSC(277;0.179) all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153) GTCGATTCCTGCGAGTGAACT 0.398000 7 34 0 0 0.038147 0 0 NAV3 89795 broad.mit.edu 37 12 78516195 78516195 + Missense_Mutation SNP A A T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:78516195A>T ENST00000397909.2 + 16 4398 c.4225A>T c.(4225-4227)Act>Tct p.T1409S NAV3_ENST00000228327.6_Missense_Mutation_p.T1409S|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.T1409S Q8IVL0 NAV3_HUMAN neuron navigator 3 1409 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.T1409C(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TGTGAGATCTACTCTCTCAGA 0.527000 HNSCC(70;0.22) 18 45 0 0 0.038395 0 0 DMD 1756 broad.mit.edu 37 X 32361373 32361373 + Silent SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chrX:32361373G>A ENST00000357033.4 - 40 5823 c.5617C>T c.(5617-5619)Cta>Tta p.L1873L DMD_ENST00000378677.2_Silent_p.L1869L NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1873 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.L1873L(1)|p.L532L(1)|p.L1869L(1)|p.L1868L(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GAAATTTCTAGAGCCTTTTTT 0.378000 17 35 0 0 0.043863 0 0 SLC35G1 159371 broad.mit.edu 37 10 95660511 95660511 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr10:95660511C>T ENST00000371408.3 + 3 420 c.359C>T c.(358-360)aCt>aTt p.T120I SLC35G1_ENST00000427197.1_Missense_Mutation_p.T121I Q2M3R5 TMM20_HUMAN solute carrier family 35, member G1 121 DUF6 1. integral to membrane p.T120I(1) ATTTACAGAACTGGGTTTATA 0.294000 7 52 0 0 0.029380 0 0 TSNAX 7257 broad.mit.edu 37 1 231700636 231700636 + Silent SNP A A G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:231700636A>G ENST00000366639.4 + 6 1016 c.858A>G c.(856-858)gaA>gaG p.E286E TRAX_ENST00000602962.1_Intron NM_005999.2 NP_005990.1 Q99598 TSNAX_HUMAN translin-associated factor X 286 cell differentiation|multicellular organismal development|spermatogenesis nucleus|perinuclear region of cytoplasm protein transporter activity|sequence-specific DNA binding p.E286E(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116) TAGATCAAGAAGAGGGCATTT 0.328000 5 37 0 0 0.021553 0 0 APOB 338 broad.mit.edu 37 2 21236089 21236089 + Missense_Mutation SNP C C G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr2:21236089C>G ENST00000233242.1 - 25 4286 c.4159G>C c.(4159-4161)Gct>Cct p.A1387P NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1387 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.A1387P(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGGTAACGAGCCCGAAGGCTG 0.532000 28 100 0 0 0.045705 0 0 ANO10 55129 broad.mit.edu 37 3 43596810 43596810 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr3:43596810C>T ENST00000292246.3 - 10 1798 c.1628G>A c.(1627-1629)cGt>cAt p.R543H ANO10_ENST00000350459.4_Missense_Mutation_p.R353H|ANO10_ENST00000414522.2_Missense_Mutation_p.R543H|ANO10_ENST00000451430.2_Missense_Mutation_p.R432H|ANO10_ENST00000396091.3_Missense_Mutation_p.R477H NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 543 cell death chloride channel complex chloride channel activity p.R543H(1) NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 TGAGAATGGACGTTTGAAGAC 0.363000 14 53 0 0 0.132662 0 0 WNT4 54361 broad.mit.edu 37 1 22447964 22447964 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:22447964C>T ENST00000290167.6 - 3 462 c.419G>A c.(418-420)aGg>aAg p.R140K WNT4_ENST00000542383.1_Missense_Mutation_p.R85K NM_030761.4 NP_110388.2 P56705 WNT4_HUMAN wingless-type MMTV integration site family, member 4 140 adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity p.R140K(1) breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 8 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) ATGCACTGTCCTGTCACAGCC 0.667000 13 74 0 0 0.043863 0 0 OR4N4 283694 broad.mit.edu 37 15 22382659 22382659 + Silent SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr15:22382659C>T ENST00000328795.4 + 1 278 c.187C>T c.(187-189)Ctg>Ttg p.L63L RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L63L(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTATTTATTTCTGGGCAACTT 0.463000 27 268 0 0 0.080422 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686229 108686229 + Missense_Mutation SNP T T G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:108686229T>G ENST00000312143.7 - 3 874 c.511A>C c.(511-513)Agt>Cgt p.S171R CMKLR1_ENST00000412676.1_Missense_Mutation_p.S171R|CMKLR1_ENST00000550402.1_Missense_Mutation_p.S171R|CMKLR1_ENST00000552995.1_Missense_Mutation_p.S169R|CMKLR1_ENST00000397688.2_Missense_Mutation_p.S169R NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 171 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.S169R(1) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 GATGGGGAACTCAAGAAGAAA 0.572000 4 37 0 0 0.021553 0 0 TTC37 9652 broad.mit.edu 37 5 94878980 94878980 + Missense_Mutation SNP C C A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr5:94878980C>A ENST00000358746.2 - 5 440 c.142G>T c.(142-144)Gtt>Ttt p.V48F NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 48 binding p.V48F(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 GCTGCAGCAACGCCAATAAAA 0.373000 16 99 1.3612e-06 1.5192e-06 0.132662 1 0 TRIB1 10221 broad.mit.edu 37 8 126448609 126448609 + Nonsense_Mutation SNP G G T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr8:126448609G>T ENST00000311922.3 + 3 1597 c.1015G>T c.(1015-1017)Gag>Tag p.E339* TRIB1_ENST00000520847.1_Nonsense_Mutation_p.E173*|TRIB1_ENST00000519576.1_Nonsense_Mutation_p.E108* NM_025195.2 NP_079471.1 Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 339 JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity p.E339*(2) NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CCCCTGGTTTGAGTCCGTCTT 0.547000 11 87 1.08611e-07 1.22309e-07 0.080935 1 0 DSC1 1823 broad.mit.edu 37 18 28728565 28728565 + Missense_Mutation SNP T T A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr18:28728565T>A ENST00000257197.3 - 6 929 c.668A>T c.(667-669)gAa>gTa p.E223V RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E223V NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 223 Cadherin 1. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding p.E223V(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GAGTGGATATTCTGGTGCATA 0.368000 16 79 0 0 0.146539 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34825625 34825625 + Missense_Mutation SNP C C G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr6:34825625C>G ENST00000192788.5 + 13 1869 c.1698C>G c.(1696-1698)atC>atG p.I566M UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.I566M NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 566 p.I566M(1) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TCAAAGCTATCTACAAGCTGG 0.443000 7 104 0 0 0.029380 0 0 GPR112 139378 broad.mit.edu 37 X 135487991 135487991 + Missense_Mutation SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chrX:135487991G>A ENST00000394143.1 + 23 9086 c.8795G>A c.(8794-8796)cGg>cAg p.R2932Q GPR112_ENST00000287534.4_Missense_Mutation_p.R2685Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R2932Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2727Q NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2932 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R2932Q(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AAGACTCGGCGGAAGATGATC 0.458000 14 47 0 0 0.105934 0 0 HAUS3 79441 broad.mit.edu 37 4 2242226 2242226 + Nonsense_Mutation SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr4:2242226G>A ENST00000243706.4 - 2 677 c.448C>T c.(448-450)Cag>Tag p.Q150* POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Nonsense_Mutation_p.Q150*|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Nonsense_Mutation_p.Q150* NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 150 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle p.Q150*(1) breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CCTTGACTCTGCTTCAGCTTT 0.363000 18 72 0 0 0.033300 0 0 ENAM 10117 broad.mit.edu 37 4 71508556 71508556 + Nonsense_Mutation SNP T T A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr4:71508556T>A ENST00000396073.3 + 9 1694 c.1413T>A c.(1411-1413)taT>taA p.Y471* ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 471 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel p.Y471*(1) haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AATCAAATTATAAACTGCCTC 0.388000 8 33 0 0 0.047766 0 0 NAV3 89795 broad.mit.edu 37 12 78516196 78516196 + Missense_Mutation SNP C C G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:78516196C>G ENST00000397909.2 + 16 4399 c.4226C>G c.(4225-4227)aCt>aGt p.T1409S NAV3_ENST00000228327.6_Missense_Mutation_p.T1409S|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.T1409S Q8IVL0 NAV3_HUMAN neuron navigator 3 1409 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.T1409C(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GTGAGATCTACTCTCTCAGAA 0.522000 HNSCC(70;0.22) 15 45 0 0 0.033300 0 0 KRT1 3848 broad.mit.edu 37 12 53074043 53074043 + Silent SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:53074043C>T ENST00000252244.3 - 1 148 c.90G>A c.(88-90)agG>agA p.R30R NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 30 Gly/Phe/Ser-rich.|Head. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.R30R(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 TGCTGGTGGTCCTGCGCTGGT 0.562000 6 38 0 0 0.029380 0 0 OR4D1 26689 broad.mit.edu 37 17 56233005 56233005 + Missense_Mutation SNP T T A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr17:56233005T>A ENST00000268912.5 + 1 512 c.491T>A c.(490-492)cTt>cAt p.L164H NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L164H(1) kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 GCTCTGATACTTCCACTGCCC 0.527000 13 75 0 0 0.146539 0 0 AADACL3 126767 broad.mit.edu 37 1 12785267 12785267 + Silent SNP C C A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:12785267C>A ENST00000332530.3 + 3 373 c.147C>A c.(145-147)tcC>tcA p.S49S AADACL3_ENST00000359318.5_Silent_p.S119S NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 119 hydrolase activity p.S119S(1)|p.S49S(1) breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCCTGAAGTCCCTGGATGCAT 0.512000 15 78 1.05317e-09 1.20776e-09 0.119110 1 0 PDZD7 79955 broad.mit.edu 37 10 102782064 102782064 + Silent SNP G G A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr10:102782064G>A ENST00000370215.3 - 5 846 c.621C>T c.(619-621)gtC>gtT p.V207V NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 207 cilium|nucleus protein binding p.V207V(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CGATGCGCCGGACACCATCTT 0.592000 4 32 0 0 0.014758 0 0 UBXN11 91544 broad.mit.edu 37 1 26608843 26608844 + In_Frame_Ins INS - - GGGACA rs6667693 by1000genomes TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr1:26608843_26608844insGGGACA ENST00000314675.7 - 11 1228_1229 c.1149_1150insTGTCCC c.(1147-1152)ccgtcc>ccTGTCCCgtcc p.382_383insPV UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374222.1_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPV NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 502 cytoplasm|cytoskeleton p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 ggaccgggaccgggactggggc 0.733 28 50 --- --- --- --- NIFK-AS1 254128 broad.mit.edu 37 2 122466739 122466740 + RNA INS - - T rs6733674 by1000genomes TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr2:122466739_122466740insT ENST00000419902.1 + 0 637 NR_037857.1 tttttttgttgttttttttttg 0.460 3 3 --- --- --- --- AC096649.3 0 broad.mit.edu 37 2 176190119 176190259 + RNA DEL GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT - rs148912092 by1000genomes TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT ENST00000438963.1 + 0 247 gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa 0.440 47 174 --- --- --- --- CTDSP1 58190 broad.mit.edu 37 2 219266341 219266342 + Frame_Shift_Ins INS - - A TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr2:219266341_219266342insA ENST00000273062.2 + 2 458_459 c.122_123insA c.(121-123)tctfs p.S41fs CTDSP1_ENST00000443891.1_Frame_Shift_Ins_p.S41fs|CTDSP1_ENST00000488627.1_3'UTR NM_021198.2|NM_182642.2 NP_067021.1|NP_872580.1 Q9GZU7 CTDS1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 41 protein dephosphorylation|regulation of transcription from RNA polymerase II promoter nucleus CTD phosphatase activity|metal ion binding|protein binding NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 8 Renal(207;0.0915) Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATCCTCCACTCACTCTTCTGCT 0.639 10 69 --- --- --- --- CCDC132 55610 broad.mit.edu 37 7 92923947 92923948 + Splice_Site INS - - G rs140810598 by1000genomes TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr7:92923947_92923948insG ENST00000544910.1 + 15 1296_1297 c.1077_splice c.e15+1 p.R359_splice CCDC132_ENST00000535481.1_Splice_Site_p.R109_splice|CCDC132_ENST00000541136.1_Splice_Site_p.R200_splice|CCDC132_ENST00000317751.6_Splice_Site_p.R120_splice|CCDC132_ENST00000305866.5_Splice_Site_p.R389_splice NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 389 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) CGAATATGGCAGGTTTGGtttt 0.272 8 106 --- --- --- --- LRRTM3 347731 broad.mit.edu 37 10 68686763 68686763 + Frame_Shift_Del DEL C C - TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr10:68686763delC ENST00000361320.4 + 2 667 c.89delC c.(88-90)gcfs p.A30fs CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 30 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CTTTCTTCTGCCGAACGAGGA 0.438 7 68 --- --- --- --- NFE2 4778 broad.mit.edu 37 12 54686563 54686571 + In_Frame_Del DEL CGTAGGAAA CGTAGGAAA - TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr12:54686563_54686571delCGTAGGAAA ENST00000540264.2 - 2 1218_1226 c.709_717delTTTCCTACG c.(709-717)del p.FPT237del NFE2_ENST00000435572.2_In_Frame_Del_p.FPT237del|NFE2_ENST00000312156.4_In_Frame_Del_p.FPT237del|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_In_Frame_Del_p.FPT237del Q16621 NFE2_HUMAN nuclear factor, erythroid 2 237 blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 CAATCTTGTCCGTAGGAAAAGGAATCTTC 0.589 7 52 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25438658 25438658 + RNA DEL C C - TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr15:25438658delC ENST00000424208.1 + 0 1415 SNHG14_ENST00000456576.1_RNA NR_003305.1 ATCTGGGAGGCCCAACCCTGT 0.592 11 54 --- --- --- --- CCDC144B 284047 broad.mit.edu 37 17 18498059 18498060 + RNA INS - - A rs66528329 TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa9108d7-5036-4059-ad82-dc64161d5bc3 aacf37f4-0e46-4277-9122-e11cbefa7158 g.chr17:18498059_18498060insA ENST00000442583.1 - 0 898_899 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTAAGTTGTTCATCAGCAACAT 0.406 8 17 --- --- --- ---