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 GLUD2 2747 broad.mit.edu 37 X 120182629 120182629 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chrX:120182629C>A ENST00000328078.1 + 1 1168 c.1091C>A c.(1090-1092)gCa>gAa p.A364E NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 364 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) TTCCCCAAGGCAAAGCCCTAT 0.493000 85 33 1.3515e-34 1.76166e-34 0.014410 1 0 TRAP1 10131 broad.mit.edu 37 16 3722789 3722789 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:3722789C>T ENST00000575671.1 - 5 1179 c.450G>A c.(448-450)ctG>ctA p.L150L TRAP1_ENST00000573872.1_Intron|TRAP1_ENST00000246957.5_Silent_p.L359L|TRAP1_ENST00000538171.1_Silent_p.L306L Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 359 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(90;0.0261) CGCTGGAGCCCAGCTCCCGGC 0.622000 5 12 0 0 0.000602 0 0 ISPD 729920 broad.mit.edu 37 7 16415830 16415830 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:16415830C>T ENST00000407010.2 - 3 570 c.571G>A c.(571-573)Gtc>Atc p.V191I ISPD_ENST00000399310.3_Intron NM_001101426.3 NP_001094896.1 A4D126 ISPD_HUMAN isoprenoid synthase domain containing 191 isoprenoid biosynthetic process nucleotidyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 GATGGACTGACGACAGTAGAT 0.418000 Multiple Myeloma(15;0.18) 13 24 0 0 0.002450 0 0 TMEM57 55219 broad.mit.edu 37 1 25810763 25810763 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:25810763C>A ENST00000374343.4 + 7 1490 c.1311C>A c.(1309-1311)aaC>aaA p.N437K TMEM57_ENST00000399766.3_Missense_Mutation_p.N210K|TMEM57_ENST00000399763.3_Missense_Mutation_p.N79K NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 437 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) TGCTGCAGAACAAGTACGTGC 0.572000 17 51 2.48551e-13 2.98717e-13 0.004990 1 0 PLCB4 5332 broad.mit.edu 37 20 9391725 9391725 + Nonsense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr20:9391725G>T ENST00000378501.2 + 21 2020 c.2005G>T c.(2005-2007)Gga>Tga p.G669* PLCB4_ENST00000378493.1_Nonsense_Mutation_p.G669*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.G669*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.G669*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.G681*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.G681* NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 669 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TGAGTATAATGGATCGTGCGG 0.368000 12 35 7.03913e-09 8.27018e-09 0.013537 1 0 CD33 945 broad.mit.edu 37 19 51728815 51728815 + Missense_Mutation SNP T T C rs146181856 byFrequency TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:51728815T>C ENST00000262262.4 + 2 400 c.379T>C c.(379-381)Tac>Cac p.Y127H CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.Y127H NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 127 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) AAGTACCAAATACAGTTACAA 0.532000 53 44 0 0 0.014410 0 0 PCDH18 54510 broad.mit.edu 37 4 138451312 138451312 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr4:138451312A>C ENST00000344876.4 - 1 2317 c.1931T>G c.(1930-1932)aTg>aGg p.M644R PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.M424R|PCDH18_ENST00000412923.2_Missense_Mutation_p.M644R|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 644 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AACAGAATCCATGCTAACGTT 0.438000 4 185 0 0 0.000602 0 0 PTGS2 5743 broad.mit.edu 37 1 186645174 186645174 + Nonsense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:186645174A>C ENST00000367468.5 - 8 1249 c.1113T>G c.(1111-1113)taT>taG p.Y371* PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 371 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GATGCCAGTGATAGAGGGTGT 0.383000 42 57 0 0 0.011902 0 0 SHB 6461 broad.mit.edu 37 9 38016101 38016101 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:38016101G>A ENST00000377707.3 - 2 1310 c.745C>T c.(745-747)Ccc>Tcc p.P249S RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.P249S|SHB_ENST00000377700.4_Missense_Mutation_p.P249S NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 249 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) GCATCAAAGGGATCTGAGTAG 0.502000 40 73 0 0 0.005524 0 0 CPA5 93979 broad.mit.edu 37 7 130008281 130008281 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:130008281C>G ENST00000485477.1 + 12 2283 c.1154C>G c.(1153-1155)gCc>gGc p.A385G CPA5_ENST00000431780.2_Missense_Mutation_p.P357A|CPA5_ENST00000355388.3_Missense_Mutation_p.A385G|CPA5_ENST00000474905.1_Missense_Mutation_p.A385G|CPA5_ENST00000466363.2_Missense_Mutation_p.A385G|CPA5_ENST00000461828.1_Missense_Mutation_p.A385G|CPA5_ENST00000393213.3_Missense_Mutation_p.A385G Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 385 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) GTCGACTGGGCCTATGACAGT 0.562000 4 116 0 0 0.000602 0 0 CROT 54677 broad.mit.edu 37 7 87022283 87022283 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:87022283G>T ENST00000331536.3 + 17 1803 c.1618G>T c.(1618-1620)Gtt>Ttt p.V540F CROT_ENST00000419147.2_Missense_Mutation_p.V568F|CROT_ENST00000442291.1_Missense_Mutation_p.V540F NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 540 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TGGAAATTTTGTTCTCTCAAC 0.383000 44 62 1.41504e-22 1.80848e-22 0.011902 1 0 KCNK9 51305 broad.mit.edu 37 8 140631071 140631071 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:140631071G>C ENST00000520439.1 - 2 618 c.555C>G c.(553-555)agC>agG p.S185R KCNK9_ENST00000303015.1_Missense_Mutation_p.S185R Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 185 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CGTGGAAGAAGCTCCACTCCT 0.592000 19 41 0 0 0.007413 0 0 KAT6B 23522 broad.mit.edu 37 10 76789017 76789017 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:76789017G>A ENST00000287239.4 + 18 4924 c.4435G>A c.(4435-4437)Gtc>Atc p.V1479I KAT6B_ENST00000372711.1_Missense_Mutation_p.V1296I|KAT6B_ENST00000372714.1_Missense_Mutation_p.V1187I|KAT6B_ENST00000372724.1_Missense_Mutation_p.V1187I|KAT6B_ENST00000372725.1_Missense_Mutation_p.V1187I NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1479 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding GGACTGTGGCGTCGACCTGAC 0.527000 16 36 0 0 0.008871 0 0 KIAA1199 57214 broad.mit.edu 37 15 81225737 81225737 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr15:81225737G>A ENST00000394685.3 + 23 3364 c.2945G>A c.(2944-2946)cGg>cAg p.R982Q KIAA1199_ENST00000356249.5_Missense_Mutation_p.R982Q|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R982Q|RP11-351M8.2_ENST00000560873.1_RNA Q8WUJ3 K1199_HUMAN KIAA1199 982 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGGCTGGTCCGGCACCCAGAC 0.582000 29 70 0 0 0.010818 0 0 ESPNP 284729 broad.mit.edu 37 1 17034573 17034573 + RNA SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:17034573C>T ENST00000492551.1 - 0 194 NR_026567.1 CATTCACTCCCCTGCGGAGAC 0.701000 3 9 0 0 0.004672 0 0 SUGP2 10147 broad.mit.edu 37 19 19130026 19130026 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:19130026C>T ENST00000601879.1 - 4 2039 c.1742G>A c.(1741-1743)cGa>cAa p.R581Q SUGP2_ENST00000600377.1_Missense_Mutation_p.R595Q|SUGP2_ENST00000337018.6_Missense_Mutation_p.R581Q|SUGP2_ENST00000452918.2_Missense_Mutation_p.R581Q|SUGP2_ENST00000456085.2_Missense_Mutation_p.R350Q Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 581 mRNA processing|RNA splicing nucleus RNA binding p.R581Q(1) NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GTGATCTGCTCGCTGGGGGAC 0.522000 15 27 0 0 0.003163 0 0 ZNF232 7775 broad.mit.edu 37 17 5009729 5009729 + Nonsense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:5009729G>T ENST00000250076.3 - 5 1379 c.725C>A c.(724-726)tCa>tAa p.S242* ZNF232_ENST00000575898.1_Nonsense_Mutation_p.S233*|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575538.1_5'UTR NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 215 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 GAACACCTGTGATTCCACTTC 0.448000 30 14 1.39806e-14 1.68797e-14 0.008361 1 0 MAPT 4137 broad.mit.edu 37 17 44096055 44096055 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:44096055C>A ENST00000344290.5 + 14 2396 c.2074C>A c.(2074-2076)Ctg>Atg p.L692M MAPT_ENST00000415613.2_Missense_Mutation_p.L692M|MAPT_ENST00000420682.2_Missense_Mutation_p.L328M|MAPT_ENST00000351559.5_Missense_Mutation_p.L357M|MAPT_ENST00000262410.5_Missense_Mutation_p.L674M|MAPT_ENST00000340799.5_Missense_Mutation_p.L328M|MAPT_ENST00000576518.1_Missense_Mutation_p.L257M|MAPT_ENST00000347967.5_Missense_Mutation_p.L232M|MAPT_ENST00000574436.1_Missense_Mutation_p.L357M|MAPT_ENST00000571987.1_Missense_Mutation_p.L674M|MAPT_ENST00000334239.8_Missense_Mutation_p.L268M|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.L326M|MAPT_ENST00000446361.3_Missense_Mutation_p.L299M|MAPT_ENST00000431008.3_Missense_Mutation_p.L326M NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 674 Not glycated. cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GATTGGGTCCCTGGACAATAT 0.493000 6 186 3.59834e-05 3.99476e-05 0.001168 1 0 ARMCX5 64860 broad.mit.edu 37 X 101857289 101857289 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chrX:101857289A>T ENST00000604957.1 + 1 2842 c.220A>T c.(220-222)Aca>Tca p.T74S ARMCX5_ENST00000372742.1_Missense_Mutation_p.T74S|ARMCX5_ENST00000536530.1_Missense_Mutation_p.T74S|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.T74S|ARMCX5_ENST00000537008.1_Missense_Mutation_p.T74S|ARMCX5_ENST00000246174.2_Missense_Mutation_p.T74S|RP4-769N13.7_ENST00000602441.1_RNA NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 74 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 TATGGCTGTGACAAGGGAAGT 0.483000 26 25 0 0 0.003954 0 0 EIF3A 8661 broad.mit.edu 37 10 120802159 120802159 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:120802159G>T ENST00000369144.3 - 19 3000 c.2873C>A c.(2872-2874)cCc>cAc p.P958H EIF3A_ENST00000541549.1_Missense_Mutation_p.P924H|EIF3A_ENST00000478852.1_Intron NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 958 25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) GCCACGCCGGGGAACCCGATC 0.582000 46 118 4.21674e-32 5.46923e-32 0.014410 1 0 CSMD1 64478 broad.mit.edu 37 8 3059180 3059180 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:3059180G>A ENST00000520002.1 - 33 5610 c.5055C>T c.(5053-5055)acC>acT p.T1685T CSMD1_ENST00000602723.1_Silent_p.T1685T|CSMD1_ENST00000400186.3_Silent_p.T1685T|CSMD1_ENST00000602557.1_Silent_p.T1685T|CSMD1_ENST00000542608.1_Silent_p.T1684T|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Silent_p.T1684T|CSMD1_ENST00000537824.1_Silent_p.T1684T Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1685 CUB 10. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTGTGCATGGGTTCCATCAA 0.438000 7 11 0 0 0.003080 0 0 NYNRIN 57523 broad.mit.edu 37 14 24880367 24880367 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr14:24880367G>T ENST00000382554.3 + 5 2818 c.2500G>T c.(2500-2502)Gtg>Ttg p.V834L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 834 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AGAGGTCACTGTGTTTGTACC 0.592000 OREG0022626 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 65 3.77171e-38 4.94094e-38 0.014410 1 0 ZFP36 7538 broad.mit.edu 37 19 39899199 39899199 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:39899199C>A ENST00000597629.1 + 2 933 c.859C>A c.(859-861)Cct>Act p.P287T ZFP36_ENST00000248673.3_Missense_Mutation_p.P281T P26651 TTP_HUMAN ZFP36 ring finger protein 281 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGGATCCGACCCTGATGAATA 0.667000 26 82 7.41945e-09 8.67811e-09 0.005443 1 0 KIF1A 547 broad.mit.edu 37 2 241657475 241657475 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:241657475C>T ENST00000498729.2 - 48 5571 c.5325G>A c.(5323-5325)ggG>ggA p.G1775G KIF1A_ENST00000320389.7_Silent_p.G1674G NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1674 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ACCGTATGGTCCCGGCCAGGA 0.667000 4 14 0 0 0.000602 0 0 AC010731.4 0 broad.mit.edu 37 2 207509209 207509209 + RNA SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:207509209G>A ENST00000543490.1 + 0 424 AGTCATCTGAGAACTTGAAGC 0.493000 10 25 0 0 0.010729 0 0 TRPV3 162514 broad.mit.edu 37 17 3419860 3419860 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:3419860C>T ENST00000301365.4 - 16 2220 c.2089G>A c.(2089-2091)Gcc>Acc p.A697T TRPV3_ENST00000572519.1_Missense_Mutation_p.A697T|TRPV3_ENST00000576742.1_Missense_Mutation_p.A697T Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 697 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) ATGGTCCTGGCTCTCTGGGGA 0.537000 13 12 0 0 0.001855 0 0 ZNHIT6 54680 broad.mit.edu 37 1 86146537 86146537 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:86146537G>T ENST00000431532.2 - 7 1101 c.953C>A c.(952-954)gCt>gAt p.A318D ZNHIT6_ENST00000370574.3_Missense_Mutation_p.A357D NM_001170670.1|NM_017953.3 NP_001164141.1|NP_060423.3 Q9NWK9 BCD1_HUMAN zinc finger, HIT-type containing 6 357 box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1) 17 TATGTACTCAGCTTGACTTTG 0.318000 5 19 0.00116845 0.0012394 0.001168 1 0 F11R 50848 broad.mit.edu 37 1 160969992 160969992 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:160969992T>A ENST00000368026.6 - 5 809 c.535A>T c.(535-537)Agc>Tgc p.S179C F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.S130C NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 179 Ig-like V-type 2. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) GCACGGGTGCTTTTGGGATTC 0.512000 45 62 0 0 0.010771 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128983577 128983577 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:128983577C>T ENST00000274487.4 + 12 2119 c.1974C>T c.(1972-1974)cgC>cgT p.R658R CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 658 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GTCGAGAGCGCAAATGTCCTG 0.507000 43 91 0 0 0.008740 0 0 MAP3K12 7786 broad.mit.edu 37 12 53878059 53878059 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:53878059C>T ENST00000267079.2 - 8 1356 c.1131G>A c.(1129-1131)gaG>gaA p.E377E MAP3K12_ENST00000547035.1_Silent_p.E410E|MAP3K12_ENST00000547488.1_Silent_p.E410E NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 377 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 TAAAGTAAGTCTCCTGGGGTG 0.488000 11 31 0 0 0.013537 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744004 31744004 + Nonstop_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr21:31744004T>A ENST00000399889.2 - 1 553 c.528A>T c.(526-528)tgA>tgT p.*176C NM_181621.3 NP_853652.1 Q52LG2 KR132_HUMAN keratin associated protein 13-2 0 intermediate filament endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 21 GTCTGGAAATTCAGCAAGTTG 0.468000 4 53 0 0 0.009096 0 0 ACSF2 80221 broad.mit.edu 37 17 48548429 48548429 + Missense_Mutation SNP C C T rs148600715 TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:48548429C>T ENST00000427954.2 + 12 1374 c.1331C>T c.(1330-1332)gCg>gTg p.A444V ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000502667.1_Missense_Mutation_p.A406V|ACSF2_ENST00000300441.4_Missense_Mutation_p.A419V|ACSF2_ENST00000504392.1_Missense_Mutation_p.A376V|ACSF2_ENST00000541920.1_Missense_Mutation_p.A259V Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 419 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GTGACATTCGCGCACTTCCCT 0.562000 33 54 0 0 0.004289 0 0 PRMT8 56341 broad.mit.edu 37 12 3686072 3686072 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:3686072A>G ENST00000382622.3 + 7 1138 c.748A>G c.(748-750)Atc>Gtc p.I250V PRMT8_ENST00000452611.2_Missense_Mutation_p.I241V|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 250 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CATGACCTGCATCCGGGACGT 0.572000 16 264 0 0 0.004990 0 0 KIAA0195 9772 broad.mit.edu 37 17 73485427 73485427 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:73485427A>G ENST00000314256.7 + 8 1239 c.845A>G c.(844-846)cAc>cGc p.H282R KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Missense_Mutation_p.H292R NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 282 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GTGATGCTACACTATGCTGTG 0.637000 10 68 0 0 0.008291 0 0 DNAI1 27019 broad.mit.edu 37 9 34506628 34506628 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:34506628A>G ENST00000242317.4 + 13 1238 c.1067A>G c.(1066-1068)gAc>gGc p.D356G NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 356 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) TGGGTAGATGACTTCATGAAG 0.607000 Kartagener syndrome 10 58 0 0 0.006214 0 0 ASIC2 40 broad.mit.edu 37 17 32483076 32483076 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:32483076C>T ENST00000359872.6 - 1 1237 c.476G>A c.(475-477)cGt>cAt p.R159H NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 159 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) ATGGCCCACACGGTGCAGGAA 0.562000 39 74 0 0 0.004878 0 0 CCDC85A 114800 broad.mit.edu 37 2 56419698 56419698 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:56419698G>A ENST00000407595.2 + 2 865 c.363G>A c.(361-363)agG>agA p.R121R RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 121 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AAGGCAAGAGGGTGTCTCGGG 0.542000 18 60 0 0 0.006122 0 0 WDR35 57539 broad.mit.edu 37 2 20138033 20138033 + Nonsense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:20138033G>A ENST00000345530.3 - 19 2204 c.2089C>T c.(2089-2091)Cga>Tga p.R697* WDR35_ENST00000416055.2_Nonsense_Mutation_p.R262*|WDR35_ENST00000281405.4_Nonsense_Mutation_p.R686* NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 697 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACCAAAGTCGGGGGTGTGGA 0.438000 22 122 0 0 0.012319 0 0 KIF3B 9371 broad.mit.edu 37 20 30904034 30904034 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr20:30904034A>C ENST00000375712.3 + 3 1585 c.1418A>C c.(1417-1419)aAg>aCg p.K473T KIF3B_ENST00000418717.2_Missense_Mutation_p.K99T NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 473 anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ATGGAGAGTAAGTTGCTTGTT 0.408000 11 79 0 0 0.010729 0 0 SBNO1 55206 broad.mit.edu 37 12 123782584 123782584 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:123782584C>T ENST00000420886.2 - 30 3979 c.3980G>A c.(3979-3981)gGc>gAc p.G1327D SBNO1_ENST00000267176.4_Missense_Mutation_p.G1326D|SBNO1_ENST00000602750.1_Missense_Mutation_p.G1326D|SBNO1_ENST00000602398.1_Missense_Mutation_p.G1327D NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1327 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CACGTTTGTGCCACTGACAGA 0.428000 5 108 0 0 0.000602 0 0 TMEM174 134288 broad.mit.edu 37 5 72469320 72469320 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:72469320A>T ENST00000296776.5 + 1 299 c.250A>T c.(250-252)Aca>Tca p.T84S TMEM174_ENST00000511737.1_3'UTR NM_153217.2 NP_694949.1 Q8WUU8 TM174_HUMAN transmembrane protein 174 84 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) AGTTGGGGTGACATTCATCCT 0.532000 46 85 0 0 0.009718 0 0 CYP4F11 57834 broad.mit.edu 37 19 16034706 16034706 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:16034706G>A ENST00000326742.7 - 6 835 c.834C>T c.(832-834)ctC>ctT p.L278L CYP4F11_ENST00000248041.7_Silent_p.L278L|CYP4F11_ENST00000402119.3_Silent_p.L278L Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 278 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CCTGAGTGGGGAGGGTGCAGC 0.542000 69 90 0 0 0.014410 0 0 CHIAP2 149620 broad.mit.edu 37 1 111824244 111824244 + RNA SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:111824244C>T ENST00000369743.4 + 0 128 NR_003928.1 GTGCTTCAAGCCTGATGACAT 0.537000 21 28 0 0 0.008871 0 0 OBSL1 23363 broad.mit.edu 37 2 220417282 220417282 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:220417282C>T ENST00000404537.1 - 18 5340 c.5284G>A c.(5284-5286)Gcc>Acc p.A1762T OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Missense_Mutation_p.A1670T NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1762 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CGGACGCGGGCTCCGGGTCTC 0.731000 6 15 0 0 0.001168 0 0 PRR12 57479 broad.mit.edu 37 19 50105149 50105149 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:50105149C>T ENST00000418929.2 + 6 4759 c.4747C>T c.(4747-4749)Cgt>Tgt p.R1583C NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 762 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GTTCGTCATCCGTGCTGAGGA 0.612000 4 32 0 0 0.009096 0 0 XRCC5 7520 broad.mit.edu 37 2 217002844 217002844 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:217002844A>C ENST00000392133.3 + 14 1745 c.1284A>C c.(1282-1284)gaA>gaC p.E428D XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.E428D P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 428 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) CTTTCATGGAAGACTTGCGGC 0.368000 Non-homologous end-joining 11 15 0 0 0.008291 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576945 33576945 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:33576945C>T ENST00000504830.1 - 19 3521 c.3186G>A c.(3184-3186)ctG>ctA p.L1062L ADAMTS12_ENST00000352040.3_Silent_p.L977L NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1062 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GTTTCCCACCCAGGTCTCCTT 0.547000 HNSCC(64;0.19) 29 49 0 0 0.005443 0 0 ZNF451 26036 broad.mit.edu 37 6 56997899 56997899 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:56997899A>C ENST00000370706.4 + 6 728 c.484A>C c.(484-486)Acg>Ccg p.T162P RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.T162P|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.T162P NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AGGAGGCCACACGTGGGTGTC 0.393000 15 47 0 0 0.003163 0 0 A2ML1 144568 broad.mit.edu 37 12 9020506 9020506 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:9020506C>G ENST00000299698.7 + 30 3966 c.3786C>G c.(3784-3786)atC>atG p.I1262M A2ML1_ENST00000539547.1_Missense_Mutation_p.I771M NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 1106 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CTGAGGAGATCAACCTGGTTG 0.453000 33 44 0 0 0.010818 0 0 PROSER1 80209 broad.mit.edu 37 13 39588614 39588614 + Splice_Site SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:39588614C>G ENST00000352251.3 - 11 1609 c.e11-1 PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Splice_Site NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 GTGGAAAATGCTATATGGAAG 0.388000 8 23 0 0 0.003080 0 0 WDR91 29062 broad.mit.edu 37 7 134878366 134878366 + Missense_Mutation SNP T T G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:134878366T>G ENST00000354475.4 - 10 1485 c.1454A>C c.(1453-1455)aAt>aCt p.N485T WDR91_ENST00000423565.1_Missense_Mutation_p.N450T|WDR91_ENST00000344400.5_Missense_Mutation_p.N485T NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 485 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 TTCACAGAGATTCTTCTTGGC 0.572000 9 24 0 0 0.004482 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31485728 31485728 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:31485728G>T ENST00000394863.3 + 6 601 c.471G>T c.(469-471)gaG>gaT p.E157D TGFB1I1_ENST00000361773.3_Missense_Mutation_p.E140D|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.E140D|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.E140D NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 157 Interaction with PTK2B.|Transcription activation (By similarity). androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 CCACTCTGGAGCTGGATAGAC 0.572000 14 81 2.32078e-09 2.73894e-09 0.003163 1 0 RGS7 6000 broad.mit.edu 37 1 241032090 241032090 + Silent SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:241032090T>A ENST00000366565.1 - 8 894 c.513A>T c.(511-513)gcA>gcT p.A171A RGS7_ENST00000446183.2_Silent_p.A87A|RGS7_ENST00000407727.1_Silent_p.A171A|RGS7_ENST00000331110.7_Silent_p.A145A|RGS7_ENST00000401882.1_Silent_p.A118A|RGS7_ENST00000366562.4_Silent_p.A171A|RGS7_ENST00000366563.1_Silent_p.A171A|RGS7_ENST00000348120.2_Silent_p.A118A|RGS7_ENST00000366564.1_Silent_p.A171A NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 171 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CTTGTGCTTCTGCTTGCATGA 0.448000 12 145 0 0 0.002450 0 0 ZDHHC6 64429 broad.mit.edu 37 10 114194142 114194142 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:114194142A>T ENST00000369405.3 - 7 1239 c.816T>A c.(814-816)ttT>ttA p.F272L ZDHHC6_ENST00000369404.3_Missense_Mutation_p.F268L NM_022494.1 NP_071939.1 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 272 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) ATACCTGTTTAAAGTTCCTCC 0.398000 5 60 0 0 0.000602 0 0 LINGO1 84894 broad.mit.edu 37 15 77907870 77907870 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr15:77907870G>A ENST00000355300.6 - 2 553 c.379C>T c.(379-381)Cgc>Tgc p.R127C LINGO1_ENST00000561030.1_Missense_Mutation_p.R121C NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 127 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 CGGTTGCTGCGGAGACCCAGC 0.602000 13 25 0 0 0.001855 0 0 RRP36 88745 broad.mit.edu 37 6 42996851 42996851 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:42996851T>A ENST00000244496.5 + 7 675 c.665T>A c.(664-666)cTa>cAa p.L222Q NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 222 ribosomal small subunit biogenesis|rRNA processing nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 CAGTTGGCACTAGCTGAGAAG 0.483000 192 285 0 0 0.014410 0 0 CDH12 1010 broad.mit.edu 37 5 21975279 21975279 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:21975279T>A ENST00000382254.1 - 6 1533 c.447A>T c.(445-447)aaA>aaT p.K149N CDH12_ENST00000504376.2_Missense_Mutation_p.K149N|CDH12_ENST00000522262.1_Missense_Mutation_p.K149N NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 149 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TATCCTGCACTTTGATGATGA 0.423000 HNSCC(59;0.17) 5 77 0 0 0.001168 0 0 EEA1 8411 broad.mit.edu 37 12 93196253 93196253 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:93196253G>C ENST00000322349.8 - 19 2861 c.2597C>G c.(2596-2598)tCt>tGt p.S866C NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 866 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 CAAAGAATCAGAAACTTTTGA 0.308000 8 16 0 0 0.003080 0 0 YPEL5 51646 broad.mit.edu 37 2 30379615 30379615 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:30379615C>T ENST00000379520.3 + 4 602 c.98C>T c.(97-99)aCt>aTt p.T33I YPEL5_ENST00000379519.3_Missense_Mutation_p.T33I|YPEL5_ENST00000261353.4_Missense_Mutation_p.T33I|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000402708.1_Missense_Mutation_p.T33I|YPEL5_ENST00000402003.3_Missense_Mutation_p.T33I NM_001127401.1 NP_001120873.1 P62699 YPEL5_HUMAN yippee-like 5 (Drosophila) 33 peptide-methionine-(S)-S-oxide reductase activity NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1) 7 Acute lymphoblastic leukemia(172;0.155) CTCATCTCCACTCGTTTCACA 0.438000 20 131 0 0 0.007413 0 0 OR4N4 283694 broad.mit.edu 37 15 22383155 22383155 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr15:22383155C>A ENST00000328795.4 + 1 774 c.683C>A c.(682-684)gCa>gAa p.A228E RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) GTTCGTAGGGCAGCTTCTGAA 0.493000 37 324 9.80977e-26 1.26609e-25 0.004289 1 0 SCARA5 286133 broad.mit.edu 37 8 27779108 27779108 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:27779108C>T ENST00000354914.3 - 4 1381 c.896G>A c.(895-897)cGg>cAg p.R299Q SCARA5_ENST00000524352.1_Missense_Mutation_p.R299Q|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000518030.1_Missense_Mutation_p.R256Q|SCARA5_ENST00000301906.4_Missense_Mutation_p.R256Q NM_173833.5 NP_776194.2 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) 299 cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) GGAGATGTTCCGCAGTGCGAT 0.657000 10 37 0 0 0.008291 0 0 BCL2L2 599 broad.mit.edu 37 14 23777304 23777304 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr14:23777304A>C ENST00000250405.5 + 3 557 c.328A>C c.(328-330)Agt>Cgt p.S110R BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.S110R|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.S110R NM_001199839.1|NM_004050.4 NP_001186768.1|NP_004041.1 BCL2-like 2 central_nervous_system(1)|lung(4)|prostate(1) 6 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00654) GTGTGCTGAGAGTGTCAACAA 0.582000 39 50 0 0 0.006230 0 0 VCP 7415 broad.mit.edu 37 9 35060329 35060329 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:35060329A>C ENST00000358901.6 - 13 2571 c.1676T>G c.(1675-1677)gTc>gGc p.V559G NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 559 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GATTTCTCTGACATTGGCCTC 0.458000 19 26 0 0 0.012319 0 0 TRGV5 6978 broad.mit.edu 37 7 38389104 38389104 + RNA SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:38389104T>C ENST00000390344.2 - 0 403 GTTGGAGACGTCATAGTACAG 0.458000 48 59 0 0 0.014410 0 0 SMARCA4 6597 broad.mit.edu 37 19 11096928 11096928 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:11096928C>A ENST00000358026.2 + 4 703 c.419C>A c.(418-420)tCt>tAt p.S140Y SMARCA4_ENST00000444061.3_Missense_Mutation_p.S140Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S140Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S140Y|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S140Y|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S140Y|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S140Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S140Y|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S140Y NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 140 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) AGTGGCCCGTCTTCGGGGCCC 0.662000 """F, N, Mis""" NSCLC 28 21 6.38683e-12 7.60614e-12 0.008361 1 0 CACNA1D 776 broad.mit.edu 37 3 53842766 53842766 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:53842766C>T ENST00000288139.3 + 47 6018 c.5900C>T c.(5899-5901)aCg>aTg p.T1967M CACNA1D_ENST00000422281.2_Missense_Mutation_p.T1923M|CACNA1D_ENST00000350061.5_Missense_Mutation_p.T1947M|CACNA1D_ENST00000544977.1_Missense_Mutation_p.T326M NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1947 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity p.T1967M(1) breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CCCCATCGCACGGCCCTGCCT 0.642000 9 60 0 0 0.006214 0 0 AMER3 205147 broad.mit.edu 37 2 131521973 131521973 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:131521973G>A ENST00000423981.1 + 2 2438 c.2328G>A c.(2326-2328)caG>caA p.Q776Q AMER3_ENST00000321420.4_Silent_p.Q776Q NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 AGCCCTTGCAGCTCAGCACAG 0.677000 7 18 0 0 0.001984 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563937 228563937 + Missense_Mutation SNP G G A rs144223086 byFrequency TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:228563937G>A ENST00000258403.3 - 3 565 c.494C>T c.(493-495)gCg>gTg p.A165V SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.A161V NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 165 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) CGACATGTTCGCCAGGGATAC 0.542000 48 90 0 0 0.014410 0 0 RHBG 57127 broad.mit.edu 37 1 156348086 156348086 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:156348086C>T ENST00000400992.2 + 4 841 c.473C>T c.(472-474)gCc>gTc p.A158V RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368249.1_Missense_Mutation_p.A190V|RHBG_ENST00000451864.2_Missense_Mutation_p.A158V|RHBG_ENST00000255013.3_Missense_Mutation_p.A121V|RHBG_ENST00000368246.2_Missense_Mutation_p.A190V Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 190 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) ACCTTTGGTGCCTACTTCGGG 0.642000 7 161 0 0 0.004482 0 0 TANC1 85461 broad.mit.edu 37 2 160028631 160028631 + Splice_Site SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:160028631G>T ENST00000263635.6 + 11 1588 c.e11-1 TANC1_ENST00000454300.1_Splice_Site NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TTTCTCTGCAGCCTCTGACCC 0.438000 27 52 7.26314e-15 8.80992e-15 0.007291 1 0 ADIPOQ 9370 broad.mit.edu 37 3 186571026 186571026 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:186571026G>A ENST00000412955.2 + 2 320 c.179G>A c.(178-180)gGc>gAc p.G60D ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G60D|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G60D Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 60 Collagen-like. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) GGCAGAGATGGCACCCCTGGT 0.567000 9 52 0 0 0.004482 0 0 MECOM 2122 broad.mit.edu 37 3 168807903 168807903 + Missense_Mutation SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:168807903T>C ENST00000464456.1 - 13 3895 c.2695A>G c.(2695-2697)Att>Gtt p.I899V MECOM_ENST00000468789.1_Missense_Mutation_p.I908V|MECOM_ENST00000264674.3_Missense_Mutation_p.I973V|MECOM_ENST00000494292.1_Missense_Mutation_p.I1087V|MECOM_ENST00000460814.1_Missense_Mutation_p.I899V|MECOM_ENST00000472280.1_Missense_Mutation_p.I909V|MECOM_ENST00000392736.3_Missense_Mutation_p.I908V|MECOM_ENST00000433243.2_Missense_Mutation_p.I909V NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTTCCAGTAATATCATTGTCT 0.408000 35 199 0 0 0.004289 0 0 OGFOD3 79701 broad.mit.edu 37 17 80350348 80350348 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:80350348C>A ENST00000313056.5 - 9 1037 c.886G>T c.(886-888)Ggc>Tgc p.G296C OGFOD3_ENST00000578287.1_5'UTR|OGFOD3_ENST00000329197.5_3'UTR NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 TAACGGGTGCCCCAGTGGACC 0.622000 5 21 0.00116845 0.0012394 0.001168 1 0 USP45 85015 broad.mit.edu 37 6 99883592 99883592 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:99883592T>C ENST00000327681.6 - 18 2977 c.2445A>G c.(2443-2445)taA>taG p.*815* USP45_ENST00000500704.2_Silent_p.*815*|USP45_ENST00000539675.1_Silent_p.*108*|USP45_ENST00000369233.2_Silent_p.*767*|USP45_ENST00000392738.2_Silent_p.*495* NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 0 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) CCATTAATAGTTATAATACTC 0.363000 18 12 0 0 0.004990 0 0 ESRP2 80004 broad.mit.edu 37 16 68265188 68265188 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:68265188T>A ENST00000473183.2 - 12 2142 c.1604A>T c.(1603-1605)gAg>gTg p.E535V ESRP2_ENST00000565858.1_Missense_Mutation_p.E545V Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 545 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 CACGTAGCGCTCCTTCATCAC 0.617000 21 39 0 0 0.010504 0 0 DNAH8 1769 broad.mit.edu 37 6 38843395 38843395 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:38843395C>T ENST00000359357.3 + 51 7252 c.6998C>T c.(6997-6999)cCc>cTc p.P2333L DNAH8_ENST00000449981.2_Missense_Mutation_p.P2550L|DNAH8_ENST00000441566.1_Missense_Mutation_p.P2297L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGGTTAATTCCCTCCAAAGAA 0.303000 24 5 0 0 0.003330 0 0 NEB 4703 broad.mit.edu 37 2 152520126 152520126 + Missense_Mutation SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:152520126T>C ENST00000397345.3 - 45 5901 c.5699A>G c.(5698-5700)tAc>tGc p.Y1900C NEB_ENST00000409198.1_Missense_Mutation_p.Y1900C|NEB_ENST00000427231.2_Missense_Mutation_p.Y1900C|NEB_ENST00000604864.1_Missense_Mutation_p.Y1900C|NEB_ENST00000603639.1_Missense_Mutation_p.Y1900C|NEB_ENST00000172853.10_Missense_Mutation_p.Y1900C NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1900 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AAGCATGTTGTAGGTATGGAT 0.483000 8 35 0 0 0.006214 0 0 RAET1G 353091 broad.mit.edu 37 6 150240749 150240749 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:150240749C>A ENST00000367360.2 - 2 356 c.289G>T c.(289-291)Gtg>Ttg p.V97L RAET1G_ENST00000479265.1_Missense_Mutation_p.V97L NM_001001788.2 NP_001001788.2 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G 97 MHC class I alpha-1 like. antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1) 13 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) ATGTCCACCACCTCTCTCAGT 0.507000 45 129 3.05275e-18 3.86386e-18 0.013114 1 0 PLCE1 51196 broad.mit.edu 37 10 95931086 95931086 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:95931086C>G ENST00000260766.3 + 4 2276 c.1642C>G c.(1642-1644)Cgc>Ggc p.R548G PLCE1_ENST00000371385.3_Missense_Mutation_p.R240G|PLCE1_ENST00000371380.2_Missense_Mutation_p.R548G|PLCE1_ENST00000371375.1_Missense_Mutation_p.R240G NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 548 Ras-GEF. R -> L (in dbSNP:rs17417407). activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GACTATTTACCGCAGGGTCTT 0.547000 57 121 0 0 0.014410 0 0 RSPH9 221421 broad.mit.edu 37 6 43618143 43618143 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:43618143C>A ENST00000372165.4 + 2 312 c.259C>A c.(259-261)Cct>Act p.P87T RSPH9_ENST00000372163.4_Missense_Mutation_p.P87T NM_001193341.1 NP_001180270.1 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog (Chlamydomonas) 87 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CCTCTTGCCCCCTGCCACAGA 0.537000 Kartagener syndrome 14 81 0.000151284 0.000165152 0.001855 1 0 ERCC6 2074 broad.mit.edu 37 10 50678456 50678456 + Missense_Mutation SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:50678456T>C ENST00000355832.5 - 18 3628 c.3550A>G c.(3550-3552)Aaa>Gaa p.K1184E ERCC6_ENST00000542458.1_Missense_Mutation_p.K554E|RP11-123B3.2_ENST00000423283.1_RNA NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1184 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGTTTTGTTTTTGACTTGTGC 0.388000 Direct reversal of damage;Nucleotide excision repair (NER) 68 100 0 0 0.014410 0 0 HIPK4 147746 broad.mit.edu 37 19 40886277 40886277 + Nonsense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:40886277G>A ENST00000291823.2 - 3 1905 c.1621C>T c.(1621-1623)Cga>Tga p.R541* NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 541 cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) TCCTCATCTCGCTGCAGGATG 0.622000 38 76 0 0 0.004878 0 0 TP53 7157 broad.mit.edu 37 17 7577126 7577126 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:7577126T>A ENST00000420246.2 - 8 944 c.812A>T c.(811-813)gAg>gTg p.E271V TP53_ENST00000359597.4_Missense_Mutation_p.E271V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E271V|TP53_ENST00000445888.2_Missense_Mutation_p.E271V|TP53_ENST00000269305.4_Missense_Mutation_p.E271V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 271 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and 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.0?(8)|p.E271V(6)|p.E271G(3)|p.?(2)|p.E271fs*74(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.E271*(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271_R273delEVR(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) AACACGCACCTCAAAGCTGTT 0.532000 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) 16 9 0 0 0.004007 0 0 CLDN23 137075 broad.mit.edu 37 8 8560453 8560453 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:8560453C>T ENST00000519106.1 + 1 1006 c.545C>T c.(544-546)gCg>gTg p.A182V NM_194284.2 NP_919260.2 Q96B33 CLD23_HUMAN claudin 23 182 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2) 2 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238) CTCAGCTTCGCGCCCTGGTGC 0.726000 13 15 0 0 0.013537 0 0 OBSL1 23363 broad.mit.edu 37 2 220424011 220424011 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:220424011C>T ENST00000404537.1 - 9 3218 c.3162G>A c.(3160-3162)gaG>gaA p.E1054E RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Silent_p.E1054E|OBSL1_ENST00000373876.1_Silent_p.E1054E|OBSL1_ENST00000603926.1_Silent_p.E1054E|OBSL1_ENST00000265317.5_Silent_p.E45E NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1054 Ig-like 8. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CGCCCCCGTCCTCGGGCTGAG 0.617000 31 109 0 0 0.009535 0 0 C2orf16 84226 broad.mit.edu 37 2 27804830 27804830 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:27804830C>A ENST00000408964.2 + 1 5442 c.5391C>A c.(5389-5391)agC>agA p.S1797R NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1797 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CTGAGAGAAGCCATCACAGTC 0.547000 23 322 8.53417e-09 9.93757e-09 0.013726 1 0 CSMD3 114788 broad.mit.edu 37 8 113657362 113657362 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:113657362T>A ENST00000297405.5 - 20 3530 c.3286A>T c.(3286-3288)Act>Tct p.T1096S CSMD3_ENST00000343508.3_Missense_Mutation_p.T1056S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1096S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T992S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1096 CUB 6. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACATCAACAGTCCATGTACAA 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 42 0 0 0.010729 0 0 ZNF117 51351 broad.mit.edu 37 7 64438979 64438979 + Nonsense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:64438979T>A ENST00000282869.5 - 4 2254 c.970A>T c.(970-972)Aaa>Taa p.K324* NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 324 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) TGAATTTTTTTATGGTCAGTA 0.353000 23 39 0 0 0.012319 0 0 PCDHB16 57717 broad.mit.edu 37 5 140564246 140564246 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:140564246G>A ENST00000361016.2 + 1 3267 c.2112G>A c.(2110-2112)tcG>tcA p.S704S NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 704 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTCTTTTCGGTGCTCCTGT 0.697000 16 274 0 0 0.004990 0 0 OR5M9 390162 broad.mit.edu 37 11 56230584 56230584 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:56230584C>A ENST00000279791.1 - 1 293 c.294G>T c.(292-294)caG>caT p.Q98H NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) AAAAGTAGCACTGCACCAAGC 0.488000 32 59 9.65021e-13 1.1545e-12 0.010818 1 0 BAGE2 85319 broad.mit.edu 37 21 11039387 11039387 + RNA SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr21:11039387C>G ENST00000470054.1 - 0 816 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CATTTCTTCACTATCAGCCTC 0.328000 9 184 0 0 0.004482 0 0 AKAP6 9472 broad.mit.edu 37 14 33015409 33015409 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr14:33015409C>T ENST00000280979.4 + 4 1720 c.1550C>T c.(1549-1551)tCa>tTa p.S517L AKAP6_ENST00000557354.1_Missense_Mutation_p.S517L|AKAP6_ENST00000557272.1_Missense_Mutation_p.S517L NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 517 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GGGACTGGTTCAGGCAAACAA 0.463000 29 49 0 0 0.005443 0 0 BYSL 705 broad.mit.edu 37 6 41899233 41899233 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:41899233C>T ENST00000230340.4 + 5 1179 c.804C>T c.(802-804)ctC>ctT p.L268L NM_004053.3 NP_004044.3 Q13895 BYST_HUMAN bystin-like 268 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ACAAACGACTCAACTTCCATC 0.522000 31 80 0 0 0.008361 0 0 CCDC129 223075 broad.mit.edu 37 7 31682803 31682803 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:31682803G>C ENST00000319386.3 + 11 2368 c.1375G>C c.(1375-1377)Gac>Cac p.D459H CCDC129_ENST00000451887.2_Missense_Mutation_p.D633H|CCDC129_ENST00000409210.1_Missense_Mutation_p.D515H|CCDC129_ENST00000407970.3_Missense_Mutation_p.D607H Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 607 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TCATACTCAAGACAAGTTCCT 0.493000 42 95 0 0 0.007835 0 0 KIAA0907 22889 broad.mit.edu 37 1 155895555 155895555 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:155895555C>A ENST00000368320.3 - 7 786 c.761G>T c.(760-762)gGt>gTt p.G254V KIAA0907_ENST00000368319.3_Missense_Mutation_p.G254V|KIAA0907_ENST00000368321.3_Missense_Mutation_p.G254V|KIAA0907_ENST00000482337.1_5'UTR Q7Z7F0 K0907_HUMAN KIAA0907 254 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) GCAGCCTGGACCTTCCACCTT 0.458000 18 44 2.94398e-08 3.41294e-08 0.007413 1 0 PCNXL2 80003 broad.mit.edu 37 1 233397851 233397851 + Silent SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:233397851A>G ENST00000258229.8 - 3 654 c.420T>C c.(418-420)ccT>ccC p.P140P PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 140 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AGCGGAGGGGAGGCGTGGAGA 0.488000 3 137 0 0 0.004672 0 0 MYO18A 399687 broad.mit.edu 37 17 27426719 27426719 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:27426719C>T ENST00000527372.1 - 22 3749 c.3569G>A c.(3568-3570)aGg>aAg p.R1190K MYO18A_ENST00000533112.1_Missense_Mutation_p.R1190K|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1190K|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1190K NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1190 IQ. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GGTTAGGTTCCTGCTGGTTTG 0.607000 12 29 0 0 0.010729 0 0 IGFN1 91156 broad.mit.edu 37 1 201196111 201196111 + Nonsense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:201196111G>T ENST00000335211.4 + 23 11018 c.10888G>T c.(10888-10890)Gag>Tag p.E3630* IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCAGGGCTGCGAGTGCTGCAT 0.677000 64 94 2.91325e-39 3.83554e-39 0.014410 1 0 KDM6A 7403 broad.mit.edu 37 X 44942704 44942704 + Splice_Site SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chrX:44942704G>A ENST00000377967.4 + 23 3325 c.e23-1 KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TTTTATTGCAGGTGGAAGTTG 0.393000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 8 2 0 0 0.003080 0 0 B3GNT3 10331 broad.mit.edu 37 19 17918965 17918965 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:17918965C>T ENST00000318683.6 + 2 496 c.349C>T c.(349-351)Cct>Tct p.P117S B3GNT3_ENST00000595387.1_Missense_Mutation_p.P117S NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 117 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 CAAGTCCTCCCCTAGCAACTA 0.667000 9 32 0 0 0.004482 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:40367841T>G ENST00000221347.6 - 29 13126 c.13119A>C c.(13117-13119)gcA>gcC p.A4373A NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4373 TIL 10. extracellular region protein binding p.A4373A(2) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627000 14 33 0 0 0.003755 0 0 SEC31B 25956 broad.mit.edu 37 10 102247816 102247816 + Nonsense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:102247816C>A ENST00000370345.3 - 25 3425 c.3328G>T c.(3328-3330)Gag>Tag p.E1110* NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 1110 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) TATAGATACTCCAGACGCTGG 0.527000 11 21 6.40141e-05 7.07667e-05 0.010729 1 0 SLC41A2 84102 broad.mit.edu 37 12 105282861 105282861 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:105282861A>T ENST00000258538.3 - 4 957 c.830T>A c.(829-831)cTt>cAt p.L277H NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 277 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 AGAGCACAGAAGTATGGAATG 0.398000 18 43 0 0 0.007413 0 0 AUTS2 26053 broad.mit.edu 37 7 69064922 69064922 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:69064922A>C ENST00000342771.4 + 1 604 c.283A>C c.(283-285)Agc>Cgc p.S95R AUTS2_ENST00000406775.2_Missense_Mutation_p.S95R|AUTS2_ENST00000403018.2_Missense_Mutation_p.S95R NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 95 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TGCCATGACCAGCTTTGTCAC 0.657000 8 25 0 0 0.004482 0 0 SLC9B1 150159 broad.mit.edu 37 4 103912839 103912839 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr4:103912839A>T ENST00000296422.7 - 2 171 c.30T>A c.(28-30)caT>caA p.H10Q SLC9B1_ENST00000394789.3_Missense_Mutation_p.H10Q NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 10 integral to membrane solute:hydrogen antiporter activity CATCCTCCAAATGTTCATTTT 0.264000 3 2 0 0 0.004672 0 0 ALPI 248 broad.mit.edu 37 2 233321697 233321697 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:233321697G>C ENST00000295463.3 + 4 466 c.389G>C c.(388-390)gGc>gCc p.G130A NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 130 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CAGACCATCGGCTTGAGTGCA 0.617000 3 34 0 0 0.004672 0 0 TAF1 6872 broad.mit.edu 37 X 70674608 70674608 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chrX:70674608T>C ENST00000449580.1 + 34 4887 c.4836T>C c.(4834-4836)acT>acC p.T1612T TAF1_ENST00000276072.3_Silent_p.T1633T|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000373790.4_Silent_p.T1612T|TAF1_ENST00000423759.1_Silent_p.T1633T P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1612 Interaction with ASF1A and ASF1B.|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) AACATTTGACTCAACTTGAGA 0.378000 13 3 0 0 0.001855 0 0 ZZEF1 23140 broad.mit.edu 37 17 3977538 3977538 + Silent SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:3977538A>G ENST00000381638.2 - 24 3715 c.3591T>C c.(3589-3591)gaT>gaC p.D1197D NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1197 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 ACACGGCAACATCGGGCAGCC 0.587000 OREG0024096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 70 0 0 0.014410 0 0 XYLB 9942 broad.mit.edu 37 3 38442394 38442394 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:38442394G>A ENST00000207870.3 + 18 1541 c.1451G>A c.(1450-1452)gGa>gAa p.G484E XYLB_ENST00000542835.1_Missense_Mutation_p.G347E|XYLB_ENST00000472721.1_3'UTR NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 484 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) CTTGCAGGTGGAACAGATGTG 0.502000 22 21 0 0 0.012319 0 0 TNXB 7148 broad.mit.edu 37 6 32041664 32041664 + Missense_Mutation SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:32041664T>C ENST00000375244.3 - 12 4642 c.4441A>G c.(4441-4443)Aca>Gca p.T1481A TNXB_ENST00000375247.2_Missense_Mutation_p.T1481A P22105 TENX_HUMAN tenascin XB 1568 Fibronectin type-III 7. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCTGTCACTGTCAGCTCTCCT 0.587000 4 14 0 0 0.001168 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98678056 98678056 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:98678056C>T ENST00000288985.7 + 5 1233 c.928C>T c.(928-930)Ctc>Ttc p.L310F ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.L121F NM_001010895.2 NP_001010895.1 Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 310 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding CCGCATTGGCCTCACTGGAAC 0.383000 12 36 0 0 0.013537 0 0 CNOT1 23019 broad.mit.edu 37 16 58572083 58572083 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:58572083C>T ENST00000317147.5 - 37 5555 c.5223G>A c.(5221-5223)caG>caA p.Q1741Q CNOT1_ENST00000569240.1_Silent_p.Q1736Q|CNOT1_ENST00000245138.4_Silent_p.Q592Q NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1741 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GAAGATCATACTGCTGCATAT 0.403000 7 23 0 0 0.003080 0 0 TMEM2 23670 broad.mit.edu 37 9 74319658 74319658 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:74319658G>A ENST00000377044.4 - 18 3586 c.3047C>T c.(3046-3048)cCg>cTg p.P1016L TMEM2_ENST00000377066.5_Missense_Mutation_p.P953L|TMEM2_ENST00000396272.3_Missense_Mutation_p.P9L NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 1016 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AGGGTTGGACGGATACTCATC 0.438000 20 28 0 0 0.012319 0 0 TMBIM6 7009 broad.mit.edu 37 12 50135983 50135983 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:50135983G>T ENST00000423828.1 + 1 392 c.64G>T c.(64-66)Gtg>Ttg p.V22L TMBIM6_ENST00000552699.1_Missense_Mutation_p.V22L|TMBIM6_ENST00000549385.1_Intron|TMBIM6_ENST00000267115.5_Intron NM_001098576.1 NP_001092046.1 P55061 BI1_HUMAN transmembrane BAX inhibitor motif containing 6 0 apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 6 GAGGCGGGAAGTGAGAGGAGT 0.637000 6 23 5.18039e-06 5.82516e-06 0.003080 1 0 TAOK1 57551 broad.mit.edu 37 17 27857580 27857580 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:27857580A>T ENST00000261716.3 + 18 2823 c.2304A>T c.(2302-2304)ttA>ttT p.L768F TAOK1_ENST00000536202.1_Missense_Mutation_p.L620F NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 768 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) CCCGGAAATTAGCTATCTTGG 0.443000 28 37 0 0 0.007291 0 0 ZNF704 619279 broad.mit.edu 37 8 81553638 81553638 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:81553638C>G ENST00000327835.3 - 9 1433 c.1202G>C c.(1201-1203)tGc>tCc p.C401S NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 401 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) CTTCCAGCGGCAGGCGGTACA 0.627000 4 19 0 0 0.001984 0 0 LRP1B 53353 broad.mit.edu 37 2 141115638 141115638 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:141115638A>C ENST00000389484.3 - 74 12276 c.11305T>G c.(11305-11307)Tgt>Ggt p.C3769G NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3769 LDL-receptor class A 32. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTATTACTACAAGCAAACTCA 0.388000 TSP Lung(27;0.18) 26 45 0 0 0.005443 0 0 GFOD1 54438 broad.mit.edu 37 6 13365330 13365330 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:13365330G>A ENST00000379287.3 - 2 1482 c.818C>T c.(817-819)cCg>cTg p.P273L GFOD1_ENST00000379284.1_Missense_Mutation_p.P170L NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 273 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) CTCCTGCTCCGGGGCGCTGTT 0.697000 32 16 0 0 0.010818 0 0 COLGALT2 23127 broad.mit.edu 37 1 183923934 183923934 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:183923934C>G ENST00000361927.4 - 7 1362 c.991G>C c.(991-993)Gtt>Ctt p.V331L COLGALT2_ENST00000367520.3_Missense_Mutation_p.V68L|COLGALT2_ENST00000546159.1_Missense_Mutation_p.V331L NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 TTAGGGACAACTGAGACATAC 0.448000 24 30 0 0 0.003330 0 0 TMEM120B 144404 broad.mit.edu 37 12 122181639 122181639 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:122181639G>A ENST00000449592.2 + 2 275 c.174G>A c.(172-174)aaG>aaA p.K58K NM_001080825.2 NP_001074294.2 A0PK00 T120B_HUMAN transmembrane protein 120B 58 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) AGGACTTGAAGCTTACACTCC 0.547000 32 43 0 0 0.009535 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756364 49756364 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:49756364C>T ENST00000535833.1 - 10 3985 c.535G>A c.(535-537)Ggt>Agt p.G179S RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.G179S|RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_Intron Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 179 heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCGCTCAGACCGTGCAGGTGG 0.642000 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 29 0 0 0.004289 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86075251 86075251 + Nonsense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:86075251A>T ENST00000377332.3 - 4 503 c.395T>A c.(394-396)tTa>tAa p.L132* ST3GAL5_ENST00000393808.3_Nonsense_Mutation_p.L109*|ST3GAL5_ENST00000393805.1_Nonsense_Mutation_p.L104* NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 132 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 GTGCTCAAATAACAGCGCCAT 0.483000 135 222 0 0 0.014410 0 0 RELN 5649 broad.mit.edu 37 7 103123326 103123326 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:103123326A>G ENST00000428762.1 - 63 10433 c.10274T>C c.(10273-10275)gTc>gCc p.V3425A RELN_ENST00000473945.1_5'UTR|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.V3425A|RELN_ENST00000424685.2_Missense_Mutation_p.V3425A NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3425 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCACAGGACGACCTCCACATG 0.473000 19 62 0 0 0.008871 0 0 APLF 200558 broad.mit.edu 37 2 68772424 68772424 + Silent SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:68772424C>G ENST00000303795.4 + 8 1437 c.1266C>G c.(1264-1266)ccC>ccG p.P422P APLF_ENST00000471727.1_3'UTR NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 422 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 CTGAATGTCCCTATGGACCAT 0.423000 6 47 0 0 0.001168 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617533 111617533 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:111617533C>T ENST00000374667.3 - 1 1706 c.678G>A c.(676-678)ggG>ggA p.G226G NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 226 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TGAGGTCACCCCCAGCGTAGT 0.647000 13 47 0 0 0.004007 0 0 HABP2 3026 broad.mit.edu 37 10 115341746 115341746 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:115341746G>A ENST00000351270.3 + 9 1046 c.950G>A c.(949-951)gGc>gAc p.G317D HABP2_ENST00000542051.1_Missense_Mutation_p.G291D|HABP2_ENST00000541666.1_Intron NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 317 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) ATCTATGGAGGCTTTAAGAGC 0.587000 7 97 0 0 0.001984 0 0 BAG3 9531 broad.mit.edu 37 10 121436667 121436667 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:121436667A>G ENST00000369085.3 + 4 1907 c.1601A>G c.(1600-1602)aAg>aGg p.K534R NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 534 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GCAGCAGACAAGGGCAAGAAA 0.552000 23 67 0 0 0.012319 0 0 GNPTAB 79158 broad.mit.edu 37 12 102155370 102155370 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:102155370G>C ENST00000299314.7 - 14 3149 c.2887C>G c.(2887-2889)Cgg>Ggg p.R963G NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 963 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 ATAACAATCCGGTCAATCATG 0.388000 24 38 0 0 0.002780 0 0 SVEP1 79987 broad.mit.edu 37 9 113169571 113169571 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:113169571C>A ENST00000401783.2 - 38 8645 c.8309G>T c.(8308-8310)tGt>tTt p.C2770F SVEP1_ENST00000374469.1_Missense_Mutation_p.C2747F|SVEP1_ENST00000297826.5_Missense_Mutation_p.C696F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2770 Sushi 22. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AATGGCTTCACAGCGTGGGGA 0.468000 9 106 2.17888e-05 2.42922e-05 0.006214 1 0 MANEA 79694 broad.mit.edu 37 6 96053864 96053864 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:96053864T>C ENST00000358812.4 + 5 1106 c.972T>C c.(970-972)ttT>ttC p.F324F MANEA_ENST00000474553.1_3'UTR NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 324 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) ACACATATTTTGCCACAAATG 0.343000 17 12 0 0 0.004990 0 0 DNAH10 196385 broad.mit.edu 37 12 124377980 124377980 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:124377980C>T ENST00000409039.3 + 52 8867 c.8842C>T c.(8842-8844)Cca>Tca p.P2948S NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2948 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAGAAACTTCCCAGGTACCCG 0.572000 30 55 0 0 0.009535 0 0 RNF10 9921 broad.mit.edu 37 12 121013686 121013686 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:121013686C>T ENST00000325954.4 + 16 2753 c.2292C>T c.(2290-2292)tcC>tcT p.S764S RNF10_ENST00000542701.1_3'UTR|RNF10_ENST00000413266.2_Silent_p.S769S NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 764 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCAAAATTCCTTCAGCCAAG 0.507000 93 136 0 0 0.014410 0 0 COL4A6 1288 broad.mit.edu 37 X 107413937 107413937 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chrX:107413937C>G ENST00000334504.7 - 35 3628 c.3395G>C c.(3394-3396)gGa>gCa p.G1132A COL4A6_ENST00000545689.1_Missense_Mutation_p.G1132A|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1133A|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1132A|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1133A NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1133 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GCCGGCAACTCCTGGAAATCC 0.493000 Alport syndrome with Diffuse Leiomyomatosis 21 78 0 0 0.010504 0 0 FSCB 84075 broad.mit.edu 37 14 44975866 44975866 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr14:44975866G>T ENST00000340446.4 - 1 616 c.325C>A c.(325-327)Cca>Aca p.P109T NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 109 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) ACACTCTCTGGCAATTCAATA 0.418000 45 97 2.35958e-20 3.00103e-20 0.009718 1 0 FAM129C 199786 broad.mit.edu 37 19 17654420 17654420 + Missense_Mutation SNP C C A rs10401716 byFrequency TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:17654420C>A ENST00000335393.4 + 13 1765 c.1627C>A c.(1627-1629)Ctc>Atc p.L543I FAM129C_ENST00000332386.5_Missense_Mutation_p.L543I|FAM129C_ENST00000600871.1_Missense_Mutation_p.L489I|FAM129C_ENST00000595684.1_Missense_Mutation_p.L543I|FAM129C_ENST00000449408.2_Missense_Mutation_p.L269I|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000601861.1_Missense_Mutation_p.L512I|FAM129C_ENST00000300971.2_Missense_Mutation_p.L543I|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000599164.1_Missense_Mutation_p.L512I NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 543 L -> F (in dbSNP:rs10401716). autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 GCTGAGCCAACTCGAGCCAGG 0.507000 3 23 0.004672 0.00493574 0.004672 1 0 NLRP5 126206 broad.mit.edu 37 19 56539846 56539846 + Silent SNP C C T rs149649207 by1000genomes TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:56539846C>T ENST00000390649.3 + 7 2247 c.2247C>T c.(2245-2247)tcC>tcT p.S749S NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 749 mitochondrion|nucleolus ATP binding p.S749S(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GAGATGAGTCCGCTGAGGCAT 0.517000 19 290 0 0 0.008871 0 0 DMXL1 1657 broad.mit.edu 37 5 118445852 118445852 + Missense_Mutation SNP G G A rs141228194 TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:118445852G>A ENST00000311085.8 + 5 451 c.371G>A c.(370-372)cGt>cAt p.R124H DMXL1_ENST00000539542.1_Missense_Mutation_p.R124H NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 124 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TTAGGCAGTCGTCTTTTAACT 0.284000 7 17 0 0 0.001984 0 0 SYNE1 23345 broad.mit.edu 37 6 152542128 152542128 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:152542128A>G ENST00000367255.5 - 119 22311 c.21710T>C c.(21709-21711)cTa>cCa p.L7237P SYNE1_ENST00000265368.4_Missense_Mutation_p.L7237P|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7166P|SYNE1_ENST00000341594.5_Missense_Mutation_p.L6849P|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7166P|SYNE1_ENST00000356820.4_Missense_Mutation_p.L1761P NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7237 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAGCTGAAGTAGGGCCTTGCT 0.478000 HNSCC(10;0.0054) 24 40 0 0 0.014323 0 0 MUC16 94025 broad.mit.edu 37 19 9082378 9082378 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:9082378C>G ENST00000397910.4 - 1 9640 c.9437G>C c.(9436-9438)aGc>aCc p.S3146T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3147 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGAAATAGAGCTTGCCCATGT 0.473000 22 24 0 0 0.014323 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894291 78894291 + Silent SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr15:78894291G>T ENST00000326828.5 - 5 1077 c.693C>A c.(691-693)atC>atA p.I231I CHRNA3_ENST00000348639.3_Silent_p.I231I NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 231 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCGAGTATGTGATGTCGGGGT 0.547000 22 29 9.95505e-16 1.22452e-15 0.014323 1 0 TTN 7273 broad.mit.edu 37 2 179604400 179604400 + Silent SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:179604400A>G ENST00000589042.1 - 48 13784 c.13560T>C c.(13558-13560)acT>acC p.T4520T TTN_ENST00000359218.5_Silent_p.T4282T|TTN_ENST00000460472.2_Silent_p.T4157T|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.T4203T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.T4349T|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4203 Ig-like 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTCTGGTTCAGTAATGGGTT 0.393000 40 106 0 0 0.004878 0 0 ARSK 153642 broad.mit.edu 37 5 94936601 94936601 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:94936601C>T ENST00000380009.4 + 7 1352 c.1147C>T c.(1147-1149)Ccg>Tcg p.P383S NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 383 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) CTCTTTGTTGCCGTTATCATC 0.358000 21 36 0 0 0.012319 0 0 MYO7B 4648 broad.mit.edu 37 2 128394185 128394185 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:128394185C>T ENST00000389524.4 + 45 6167 c.6114C>T c.(6112-6114)ctC>ctT p.L2038L MYO7B_ENST00000428314.1_Silent_p.L2037L|MYO7B_ENST00000409816.2_Silent_p.L2037L|MYO7B_ENST00000409090.1_Silent_p.L890L Q6PIF6 MYO7B_HUMAN myosin VIIB 2037 FERM 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGGTTCTGCTCATCCACCCCA 0.652000 6 12 0 0 0.001984 0 0 OGFOD3 79701 broad.mit.edu 37 17 80350347 80350347 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:80350347C>A ENST00000313056.5 - 9 1038 c.887G>T c.(886-888)gGc>gTc p.G296V OGFOD3_ENST00000578287.1_5'UTR|OGFOD3_ENST00000329197.5_3'UTR NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 GTAACGGGTGCCCCAGTGGAC 0.627000 5 21 0.00116845 0.0012394 0.001168 1 0 ZNF536 9745 broad.mit.edu 37 19 30936598 30936598 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:30936598C>A ENST00000355537.3 + 2 2276 c.2129C>A c.(2128-2130)gCc>gAc p.A710D NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 710 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACCGGGAGTGCCCAGGAGGAC 0.682000 4 60 0.00909568 0.0094943 0.009096 1 0 CTCF 10664 broad.mit.edu 37 16 67650762 67650762 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:67650762G>T ENST00000264010.4 + 5 1511 c.1067G>T c.(1066-1068)tGc>tTc p.C356F CTCF_ENST00000401394.1_Missense_Mutation_p.C28F NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 356 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) TGTTCCATGTGCGATTACGCC 0.448000 80 130 1.06985e-64 1.42285e-64 0.014410 1 0 MUC5B 727897 broad.mit.edu 37 11 1256320 1256320 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:1256320G>A ENST00000447027.1 + 22 2703 c.2645G>A c.(2644-2646)tGc>tAc p.C882Y MUC5B_ENST00000529681.1_Missense_Mutation_p.C879Y Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 879 VWFC 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TGCAGCACCTGCAGGAACCGG 0.677000 10 16 0 0 0.008291 0 0 MPO 4353 broad.mit.edu 37 17 56355336 56355336 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:56355336G>T ENST00000340482.3 - 6 1328 c.1152C>A c.(1150-1152)aaC>aaA p.N384K MPO_ENST00000225275.3_Missense_Mutation_p.N352K|MPO_ENST00000578493.1_5'UTR P05164 PERM_HUMAN myeloperoxidase 352 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) TGTTGCGCAGGTTCCTGGCCA 0.642000 26 78 1.42536e-11 1.68979e-11 0.004656 1 0 MBNL1 4154 broad.mit.edu 37 3 152163264 152163264 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:152163264A>C ENST00000282486.6 + 5 2585 c.743A>C c.(742-744)aAg>aCg p.K248T MBNL1_ENST00000545754.1_Missense_Mutation_p.K180T|MBNL1_ENST00000485509.1_Missense_Mutation_p.K248T|MBNL1_ENST00000463374.1_Missense_Mutation_p.K248T|MBNL1_ENST00000498502.1_Missense_Mutation_p.K248T|MBNL1_ENST00000324196.5_Missense_Mutation_p.K248T|MBNL1_ENST00000493459.1_Missense_Mutation_p.K191T|MBNL1_ENST00000492948.1_Missense_Mutation_p.K248T|MBNL1_ENST00000485910.1_Missense_Mutation_p.K180T|MBNL1_ENST00000282488.7_Missense_Mutation_p.K180T|MBNL1_ENST00000324210.5_Missense_Mutation_p.K248T|MBNL1_ENST00000355460.2_Missense_Mutation_p.K248T|MBNL1_ENST00000357472.3_Missense_Mutation_p.K248T Q9NR56 MBNL1_HUMAN muscleblind-like splicing regulator 1 248 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GCCAAGATCAAGGCTGCCCAA 0.512000 137 138 0 0 0.014410 0 0 CDC16 8881 broad.mit.edu 37 13 115002175 115002175 + Splice_Site SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:115002175G>T ENST00000360383.3 + 2 301 c.e2+1 CDC16_ENST00000356221.3_Splice_Site|CDC16_ENST00000252457.5_Splice_Site|CDC16_ENST00000375308.1_Splice_Site|CDC16_ENST00000375310.1_Splice_Site|CDC16_ENST00000252458.6_Splice_Site|CDC16_ENST00000375312.3_Splice_Site NM_001078645.1|NM_003903.3 NP_001072113.1|NP_003894.3 Q13042 CDC16_HUMAN cell division cycle 16 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) CTCTCTCGTGGTAAGTGACAA 0.358000 21 50 3.8784e-16 4.83877e-16 0.012319 1 0 ADORA1 134 broad.mit.edu 37 1 203134630 203134630 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:203134630C>T ENST00000367236.4 + 3 1504 c.583C>T c.(583-585)Ctc>Ttc p.L195F ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.L195F|ADORA1_ENST00000309502.3_Missense_Mutation_p.L195F|ADORA1_ENST00000472535.1_3'UTR NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor 195 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) CCCGCTTCTCCTCATGGTCCT 0.552000 23 76 0 0 0.014323 0 0 CYP21A1P 1590 broad.mit.edu 37 6 31975463 31975463 + RNA SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:31975463T>C ENST00000342991.6 + 0 1386 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GCAGCGACTGTAGGAGGAGCT 0.657000 2 4 0 0 0.004672 0 0 SLC4A4 8671 broad.mit.edu 37 4 72222834 72222834 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr4:72222834C>A ENST00000340595.3 + 3 724 c.528C>A c.(526-528)aaC>aaA p.N176K SLC4A4_ENST00000264485.5_Missense_Mutation_p.N220K|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.N176K|SLC4A4_ENST00000425175.1_Missense_Mutation_p.N220K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.N220K NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 220 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AGAAATCCAACCTTCGGTCCC 0.483000 23 88 4.72057e-08 5.44841e-08 0.003954 1 0 LRRC15 131578 broad.mit.edu 37 3 194081062 194081062 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:194081062G>A ENST00000347624.3 - 2 796 c.711C>T c.(709-711)tcC>tcT p.S237S LRRC15_ENST00000439944.2_Silent_p.S243S|LRRC15_ENST00000428839.1_Silent_p.S243S NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 237 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) AGAGACCAGGGGAGAGCAGTC 0.552000 5 202 0 0 0.000602 0 0 NAA16 79612 broad.mit.edu 37 13 41891057 41891057 + Nonsense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:41891057G>T ENST00000379406.3 + 2 454 c.130G>T c.(130-132)Gaa>Taa p.E44* NAA16_ENST00000403412.3_Nonsense_Mutation_p.E44*|NAA16_ENST00000379367.3_Nonsense_Mutation_p.E44* NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 44 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 AAAATTTGCTGAACATGGAGG 0.368000 8 18 7.48243e-07 8.48656e-07 0.006214 1 0 ADCY10 55811 broad.mit.edu 37 1 167868789 167868789 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:167868789C>T ENST00000367848.1 - 6 735 c.238G>A c.(238-240)Gtg>Atg p.V80M ADCY10_ENST00000367851.4_Missense_Mutation_p.V172M|ADCY10_ENST00000545172.1_Missense_Mutation_p.V19M Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 172 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 ACATCGTCCACTGCCTGACCA 0.507000 17 36 0 0 0.004007 0 0 PIAS2 9063 broad.mit.edu 37 18 44424058 44424058 + Nonsense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr18:44424058C>A ENST00000585916.1 - 8 999 c.1000G>T c.(1000-1002)Gaa>Taa p.E334* PIAS2_ENST00000545673.1_Nonsense_Mutation_p.E44*|PIAS2_ENST00000324794.7_Nonsense_Mutation_p.E334* NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 334 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 GTAGCAATTTCACTATCAGGA 0.294000 24 23 5.61819e-17 7.0429e-17 0.005443 1 0 ZNF676 163223 broad.mit.edu 37 19 22363996 22363996 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:22363996C>A ENST00000397121.2 - 3 840 c.523G>T c.(523-525)Ggc>Tgc p.G175C NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAAGCTTTGCCATTTTCTTCA 0.338000 25 33 8.24728e-16 1.0235e-15 0.004656 1 0 CDH11 1009 broad.mit.edu 37 16 65038544 65038544 + Splice_Site SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:65038544C>A ENST00000394156.3 - 3 682 c.e3+1 CDH11_ENST00000268603.4_Splice_Site|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_Intron P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GGCAGCCTTACCCTGCCCACA 0.572000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 17 16 9.7654e-05 0.000107052 0.007413 1 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 221 0 0 0.000602 0 0 CACNA1C 775 broad.mit.edu 37 12 2760859 2760859 + Silent SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:2760859C>A ENST00000399655.1 + 32 4264 c.3999C>A c.(3997-3999)gtC>gtA p.V1333V CACNA1C_ENST00000399637.1_Silent_p.V1333V|CACNA1C_ENST00000347598.4_Silent_p.V1381V|CACNA1C_ENST00000399638.1_Silent_p.V1361V|CACNA1C_ENST00000399606.1_Silent_p.V1353V|CACNA1C_ENST00000399591.1_Silent_p.V1322V|CACNA1C_ENST00000399634.1_Silent_p.V1333V|CACNA1C_ENST00000335762.5_Silent_p.V1358V|CACNA1C_ENST00000399597.1_Silent_p.V1333V|CACNA1C_ENST00000399649.1_Silent_p.V1320V|CACNA1C_ENST00000399629.1_Silent_p.V1350V|CACNA1C_ENST00000344100.3_Silent_p.V1355V|CACNA1C_ENST00000399601.1_Silent_p.V1333V|CACNA1C_ENST00000399617.1_Silent_p.V1333V|CACNA1C_ENST00000399644.1_Silent_p.V1333V|CACNA1C_ENST00000402845.3_Silent_p.V1333V|CACNA1C_ENST00000399621.1_Silent_p.V1333V|CACNA1C_ENST00000406454.3_Silent_p.V1333V|CACNA1C_ENST00000399641.1_Silent_p.V1333V|CACNA1C_ENST00000399603.1_Silent_p.V1333V|CACNA1C_ENST00000327702.7_Silent_p.V1333V|CACNA1C_ENST00000399595.1_Silent_p.V1322V NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1381 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGTTCCGGGTCATGCGTCTGG 0.617000 33 57 3.90053e-15 4.77541e-15 0.012213 1 0 ILK 3611 broad.mit.edu 37 11 6631495 6631495 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:6631495G>C ENST00000396751.2 + 11 1651 c.1195G>C c.(1195-1197)Gag>Cag p.E399Q ILK_ENST00000528995.1_Missense_Mutation_p.E338Q|ILK_ENST00000537806.1_Missense_Mutation_p.E265Q|ILK_ENST00000299421.4_Missense_Mutation_p.E399Q|ILK_ENST00000420936.2_Missense_Mutation_p.E399Q|ILK_ENST00000526711.1_3'UTR NM_001014795.1 NP_001014795.1 Q13418 ILK_HUMAN integrin-linked kinase 399 Protein kinase. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) CTCCAATATGGAGATTGGAAT 0.488000 24 30 0 0 0.014323 0 0 GABRB2 2561 broad.mit.edu 37 5 160758103 160758103 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:160758103G>C ENST00000274547.2 - 9 1081 c.864C>G c.(862-864)atC>atG p.I288M GABRB2_ENST00000517901.1_Missense_Mutation_p.I225M|GABRB2_ENST00000517547.1_Missense_Mutation_p.I128M|GABRB2_ENST00000393959.1_Missense_Mutation_p.I288M|GABRB2_ENST00000353437.6_Missense_Mutation_p.I288M|GABRB2_ENST00000520240.1_Missense_Mutation_p.I288M NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 288 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGTGGGTGTTGATTGTGGTCA 0.428000 46 81 0 0 0.013114 0 0 SPG11 80208 broad.mit.edu 37 15 44941138 44941138 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr15:44941138T>A ENST00000261866.7 - 7 1544 c.1528A>T c.(1528-1530)Agt>Tgt p.S510C SPG11_ENST00000427534.2_Missense_Mutation_p.S510C|SPG11_ENST00000559193.1_Missense_Mutation_p.S510C|SPG11_ENST00000535302.2_Missense_Mutation_p.S510C|SPG11_ENST00000558319.1_Missense_Mutation_p.S510C NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 510 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GTGCTGGCACTTCCATGGATC 0.398000 14 42 0 0 0.002450 0 0 TTC23L 153657 broad.mit.edu 37 5 34880347 34880347 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:34880347G>T ENST00000505624.1 + 9 1114 c.1011G>T c.(1009-1011)gaG>gaT p.E337D TTC23L_ENST00000514080.1_3'UTR NM_144725.3 NP_653326.3 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 337 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1) 22 TGGGCTCAGAGGATTTTGAAA 0.348000 12 31 1.08611e-07 1.24262e-07 0.010729 1 0 CEP192 55125 broad.mit.edu 37 18 13057679 13057679 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr18:13057679C>T ENST00000506447.1 + 20 4284 c.4204C>T c.(4204-4206)Cgc>Tgc p.R1402C CEP192_ENST00000325971.8_Missense_Mutation_p.R806C|CEP192_ENST00000430049.2_Missense_Mutation_p.R927C NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 997 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TCCAACTGACCGCTGGCTGCA 0.502000 48 13 0 0 0.013114 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399357 89399357 + RNA SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:89399357A>T ENST00000479981.1 - 0 372 GTGGGAGGGTAACTATTATAC 0.512000 57 82 0 0 0.014410 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55304315 55304315 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:55304315C>T ENST00000398661.2 - 9 1059 c.928G>A c.(928-930)Ggc>Agc p.G310S HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G280S|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G177S|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G248S|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.G114S|HMGCLL1_ENST00000507223.1_5'UTR NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 310 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) TAAGGGCAGCCACCTAATCCG 0.428000 38 41 0 0 0.004878 0 0 INTS3 65123 broad.mit.edu 37 1 153745728 153745728 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:153745728G>A ENST00000456435.1 + 29 3877 c.2691G>A c.(2689-2691)gtG>gtA p.V897V INTS3_ENST00000512605.1_Silent_p.V897V|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.V1037V|INTS3_ENST00000318967.2_Silent_p.V1037V Q68E01 INT3_HUMAN integrator complex subunit 3 1038 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCTCTGCAGTGGGCTCTGACA 0.552000 42 74 0 0 0.006999 0 0 ZBP1 81030 broad.mit.edu 37 20 56189965 56189965 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr20:56189965T>C ENST00000340462.4 - 3 691 c.411A>G c.(409-411)aaA>aaG p.K137K ZBP1_ENST00000343535.4_Silent_p.K160K|ZBP1_ENST00000541799.1_Silent_p.K160K|ZBP1_ENST00000371173.3_Silent_p.K160K|ZBP1_ENST00000395822.3_Silent_p.K85K Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 160 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) TCGTCCATGCTTTGGACTGCT 0.557000 57 121 0 0 0.014410 0 0 CACNA1G 8913 broad.mit.edu 37 17 48694921 48694921 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:48694921G>C ENST00000352832.5 + 27 5414 c.5042G>C c.(5041-5043)cGc>cCc p.R1681P CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1715P|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1715P|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1681P|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1715P|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1697P|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1681P|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1692P|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1681P|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1670P|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1674P|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1681P|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1658P|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1663P|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1692P|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1715P|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1697P|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1670P|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1722P|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1697P|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1715P NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1715 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGGGTGCTGCGCATTGCCCGA 0.622000 12 81 0 0 0.001855 0 0 GSG1 83445 broad.mit.edu 37 12 13238169 13238169 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:13238169C>A ENST00000337630.6 - 6 714 c.647G>T c.(646-648)tGg>tTg p.W216L GSG1_ENST00000537302.1_Missense_Mutation_p.W188L|GSG1_ENST00000396310.2_Missense_Mutation_p.W185L|GSG1_ENST00000324458.8_Missense_Mutation_p.W252L|GSG1_ENST00000457134.2_Missense_Mutation_p.W165L|GSG1_ENST00000432710.2_Missense_Mutation_p.W229L|GSG1_ENST00000396302.3_Silent_p.L257L|GSG1_ENST00000351606.6_Silent_p.L293L NM_153823.3 NP_722545.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 239 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GAAGGAGAGCCAGGCCATGCT 0.483000 13 35 2.27111e-07 2.58709e-07 0.013537 1 0 CERS5 91012 broad.mit.edu 37 12 50535844 50535844 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:50535844G>A ENST00000317551.6 - 4 608 c.484C>T c.(484-486)Ctc>Ttc p.L162F CERS5_ENST00000422340.2_Missense_Mutation_p.L104F NM_147190.2 NP_671723.1 Q8N5B7 CERS5_HUMAN ceramide synthase 5 162 TLC. ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ACCGACCAGAGAAATCTAATT 0.368000 11 15 0 0 0.010729 0 0 IGHV1-2 28474 broad.mit.edu 37 14 106452764 106452764 + RNA SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr14:106452764C>T ENST00000390594.2 - 0 321 TCATGGTGACCCTGCCCTGAA 0.567000 87 249 0 0 0.014410 0 0 CUX1 1523 broad.mit.edu 37 7 101845472 101845472 + Silent SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:101845472C>A ENST00000360264.3 + 18 2948 c.2928C>A c.(2926-2928)atC>atA p.I976I CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.I807I|CUX1_ENST00000550008.2_Silent_p.I909I|CUX1_ENST00000549414.2_Silent_p.I943I|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.I863I|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Silent_p.I965I NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 965 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GCCAGAGAATCTTCGGGGAGA 0.562000 10 94 0.000442599 0.000481166 0.006214 1 0 RER1 11079 broad.mit.edu 37 1 2330854 2330854 + Splice_Site SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:2330854G>A ENST00000605895.1 + 4 320 c.186_splice c.e4-1 p.G63_splice RER1_ENST00000378513.3_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378512.1_Splice_Site_p.G63_splice|RER1_ENST00000488353.1_Splice_Site_p.G63_splice NM_007033.4 NP_008964.3 O15258 RER1_HUMAN retention in endoplasmic reticulum sorting receptor 1 63 retrograde vesicle-mediated transport, Golgi to ER integral to Golgi membrane endometrium(3)|kidney(1) 4 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204) TCTCTTTCAGGGTTGGTACAT 0.463000 9 93 0 0 0.004482 0 0 POSTN 10631 broad.mit.edu 37 13 38160349 38160349 + Silent SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:38160349G>T ENST00000379747.4 - 7 939 c.822C>A c.(820-822)ccC>ccA p.P274P POSTN_ENST00000541481.1_Silent_p.P274P|POSTN_ENST00000541179.1_Silent_p.P274P|POSTN_ENST00000379749.4_Silent_p.P274P|POSTN_ENST00000379742.4_Silent_p.P274P|POSTN_ENST00000379743.4_Silent_p.P274P NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 274 FAS1 2. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CCTCATTGGTGGGAGCAAAGA 0.468000 19 54 8.28177e-16 1.0235e-15 0.007413 1 0 C6orf58 352999 broad.mit.edu 37 6 127911377 127911377 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:127911377A>G ENST00000329722.7 + 5 832 c.820A>G c.(820-822)Act>Gct p.T274A NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 274 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) TCTTCTTAATACTGATGTAGC 0.398000 51 38 0 0 0.014410 0 0 LINC00969 440993 broad.mit.edu 37 3 195410627 195410627 + RNA SNP A A G rs6583272 by1000genomes TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:195410627A>G ENST00000445430.1 + 0 1824 CCTCAGGTGCAGATTGATGAG 0.473000 5 68 0 0 0.001984 0 0 ZFP14 57677 broad.mit.edu 37 19 36853054 36853054 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:36853054C>T ENST00000270001.7 - 3 211 c.96G>A c.(94-96)agG>agA p.R32R ZFP14_ENST00000589280.1_Silent_p.R32R NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) ACATTACATCCCTATATAAGT 0.403000 8 48 0 0 0.003080 0 0 MATN2 4147 broad.mit.edu 37 8 99015907 99015907 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:99015907T>A ENST00000254898.5 + 8 1454 c.1223T>A c.(1222-1224)cTg>cAg p.L408Q MATN2_ENST00000522025.2_Missense_Mutation_p.L124Q|MATN2_ENST00000521689.1_Missense_Mutation_p.L408Q|MATN2_ENST00000524308.1_Missense_Mutation_p.L367Q|MATN2_ENST00000520016.1_Missense_Mutation_p.L408Q NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 408 EGF-like 5. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TACTGTGCACTGAACAAACCG 0.597000 9 75 0 0 0.008291 0 0 GRSF1 2926 broad.mit.edu 37 4 71698926 71698926 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr4:71698926C>T ENST00000254799.6 - 3 696 c.579G>A c.(577-579)agG>agA p.R193R GRSF1_ENST00000439371.1_Silent_p.R31R|GRSF1_ENST00000502323.1_Silent_p.R31R|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Silent_p.R75R NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 193 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) AGGCATCACCCCTTCGTTTCC 0.438000 18 61 0 0 0.006122 0 0 MYO15A 51168 broad.mit.edu 37 17 18075505 18075505 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:18075505C>T ENST00000451725.2 + 8 671 c.632C>T c.(631-633)cCt>cTt p.P211L MYO15A_ENST00000205890.5_Silent_p.S3417S|MYO15A_ENST00000418233.3_Silent_p.S681S Q9UKN7 MYO15_HUMAN myosin XVA 669 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCGGCTCCTCCTTCTTCTTCA 0.582000 4 33 0 0 0.009096 0 0 USP12 219333 broad.mit.edu 37 13 27649390 27649390 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:27649390T>C ENST00000282344.6 - 7 1126 c.870A>G c.(868-870)tcA>tcG p.S290S NM_182488.3 NP_872294.2 O75317 UBP12_HUMAN ubiquitin specific peptidase 12 290 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) TGGCATCACCTGAAGTGTTAA 0.408000 17 48 0 0 0.006122 0 0 ATP8B2 57198 broad.mit.edu 37 1 154316484 154316484 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:154316484G>T ENST00000368489.3 + 18 1973 c.1973G>T c.(1972-1974)cGg>cTg p.R658L NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 644 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CAGGACAGCCGGGAGGACAGG 0.632000 17 32 4.75885e-15 5.79916e-15 0.004990 1 0 C1orf63 57035 broad.mit.edu 37 1 25573139 25573139 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:25573139G>A ENST00000243189.7 - 2 592 c.316C>T c.(316-318)Cgg>Tgg p.R106W C1orf63_ENST00000417642.2_Missense_Mutation_p.R99W|C1orf63_ENST00000431849.2_Missense_Mutation_p.R106W NM_020317.3 NP_064713.3 Q9BUV0 CA063_HUMAN chromosome 1 open reading frame 63 106 Arg-rich. breast(1)|large_intestine(1)|lung(4)|pancreas(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GAAGGAGACCGGTAGTATCTC 0.672000 8 67 0 0 0.003080 0 0 BCL9 607 broad.mit.edu 37 1 147091476 147091476 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:147091476C>T ENST00000234739.3 + 8 2255 c.1515C>T c.(1513-1515)caC>caT p.H505H NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 505 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TCCATCAGCACGGGCCTCGGG 0.567000 T """IGH@, IGL@""" B-ALL 41 100 0 0 0.013114 0 0 CNGB1 1258 broad.mit.edu 37 16 57994742 57994742 + Splice_Site SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:57994742A>G ENST00000564448.1 - 8 595 c.e8+1 CNGB1_ENST00000251102.8_Splice_Site|CNGB1_ENST00000311183.4_Splice_Site Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 TCCTTGGCTCACCTCAGAGGA 0.642000 14 30 0 0 0.004007 0 0 DNAH9 1770 broad.mit.edu 37 17 11554533 11554533 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:11554533G>T ENST00000262442.3 + 13 2313 c.2245G>T c.(2245-2247)Gtt>Ttt p.V749F DNAH9_ENST00000454412.2_Missense_Mutation_p.V749F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 749 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTACAACAAGGTTATGAAAAC 0.463000 5 69 0.00116845 0.0012394 0.001168 1 0 RCN3 57333 broad.mit.edu 37 19 50046458 50046458 + Silent SNP C C T rs149927163 TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:50046458C>T ENST00000270645.3 + 7 1422 c.975C>T c.(973-975)caC>caT p.H325H NM_020650.2 NP_065701.2 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 325 endoplasmic reticulum lumen calcium ion binding|protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) CCCGGCACCACGATGAGCTGT 0.647000 10 27 0 0 0.010729 0 0 PRDM9 56979 broad.mit.edu 37 5 23522937 23522937 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:23522937T>C ENST00000296682.3 + 8 1007 c.825T>C c.(823-825)ccT>ccC p.P275P NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 275 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ACTTTGGCCCTTATGAGGGCC 0.557000 HNSCC(3;0.000094) 3 84 0 0 0.004672 0 0 SHROOM3 57619 broad.mit.edu 37 4 77662554 77662554 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr4:77662554C>T ENST00000296043.6 + 5 4181 c.3228C>T c.(3226-3228)ccC>ccT p.P1076P NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1076 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TGTCGGGGCCCGAGCTGAAGC 0.692000 10 9 0 0 0.008291 0 0 OSTM1 28962 broad.mit.edu 37 6 108395812 108395812 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:108395812G>T ENST00000193322.3 - 1 129 c.44C>A c.(43-45)cCg>cAg p.P15Q NM_014028.3 NP_054747.2 Q86WC4 OSTM1_HUMAN osteopetrosis associated transmembrane protein 1 15 integral to membrane central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938) BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581) CAGCCACGGCGGCAACGAACA 0.751000 6 6 8.12818e-05 8.94783e-05 0.001984 1 0 LRPPRC 10128 broad.mit.edu 37 2 44145429 44145429 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:44145429T>A ENST00000260665.7 - 28 3062 c.3005A>T c.(3004-3006)gAg>gTg p.E1002V NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 1002 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTGGTTACCCTCTCTAAGGAT 0.368000 14 43 0 0 0.001855 0 0 ACY3 91703 broad.mit.edu 37 11 67412541 67412541 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:67412541C>T ENST00000255082.3 - 6 779 c.609G>A c.(607-609)ctG>ctA p.L203L ACY3_ENST00000529256.1_Silent_p.L82L NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 203 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) CGATGAAGTCCAGAACTGTGG 0.617000 58 116 0 0 0.014410 0 0 AK9 221264 broad.mit.edu 37 6 109819090 109819090 + Missense_Mutation SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:109819090T>C ENST00000424296.2 - 37 5201 c.5125A>G c.(5125-5127)Aga>Gga p.R1709G RP5-919F19.5_ENST00000423747.1_RNA NM_001145128.2 NP_001138600.2 adenylate kinase 9 AGTGTCAGTCTTTTGGGGATC 0.473000 22 27 0 0 0.014323 0 0 SLC22A9 114571 broad.mit.edu 37 11 63137735 63137735 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:63137735A>T ENST00000279178.3 + 1 456 c.207A>T c.(205-207)caA>caT p.Q69H SLC22A9_ENST00000310969.4_Missense_Mutation_p.Q69H NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 69 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CCCTCAGCCAAGATGCACTCT 0.527000 26 102 0 0 0.003330 0 0 C9orf171 389799 broad.mit.edu 37 9 135447890 135447890 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:135447890A>C ENST00000343036.2 + 7 1004 c.956A>C c.(955-957)cAc>cCc p.H319P C9orf171_ENST00000393216.2_Missense_Mutation_p.H283P NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 319 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 AACTACACCCACCCCTAGCCC 0.597000 6 18 0 0 0.002450 0 0 GSTK1 373156 broad.mit.edu 37 7 142961250 142961250 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:142961250G>A ENST00000479303.1 + 2 202 c.144G>A c.(142-144)atG>atA p.M48I AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000358406.5_Missense_Mutation_p.M48I|GSTK1_ENST00000409500.3_Missense_Mutation_p.M48I|GSTK1_ENST00000443571.2_Missense_Mutation_p.M48I NM_001143679.1 NP_001137151.1 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 48 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity lung(4) 4 Melanoma(164;0.059) Glutathione(DB00143) CAGGGATCATGAAAGACAGTG 0.567000 16 22 0 0 0.004990 0 0 TMCO1 54499 broad.mit.edu 37 1 165737484 165737484 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:165737484G>A ENST00000367881.5 - 2 521 c.246C>T c.(244-246)taC>taT p.Y82Y TMCO1_ENST00000580248.1_5'UTR|TMCO1_ENST00000392129.6_Silent_p.Y31Y|TMCO1_ENST00000464650.1_5'UTR Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 31 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) TGTCTGTCCTGTAAACCAGGA 0.373000 12 19 0 0 0.001855 0 0 ESM1 11082 broad.mit.edu 37 5 54277890 54277890 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:54277890C>T ENST00000381405.4 - 2 531 c.386G>A c.(385-387)tGc>tAc p.C129Y ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Intron NM_007036.4 NP_008967.1 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 129 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding breast(1)|kidney(1)|large_intestine(4)|lung(4) 10 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) GAATTTCAGGCATTTTCCCGT 0.483000 30 36 0 0 0.009535 0 0 C14orf159 80017 broad.mit.edu 37 14 91642340 91642340 + Missense_Mutation SNP G G T rs75931548 byFrequency TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr14:91642340G>T ENST00000518868.1 + 10 1360 c.670G>T c.(670-672)Ggg>Tgg p.G224W C14orf159_ENST00000525393.2_Missense_Mutation_p.G95W|C14orf159_ENST00000523816.1_Missense_Mutation_p.G219W|C14orf159_ENST00000522322.1_Missense_Mutation_p.G219W|C14orf159_ENST00000521077.2_Missense_Mutation_p.G224W|C14orf159_ENST00000520328.1_Missense_Mutation_p.G207W|C14orf159_ENST00000523771.1_Missense_Mutation_p.G219W|C14orf159_ENST00000412671.2_Missense_Mutation_p.G224W|C14orf159_ENST00000428926.2_Missense_Mutation_p.G219W|C14orf159_ENST00000256324.10_Missense_Mutation_p.G224W Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 219 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) GTGTCCCCCAGGGGAGGTTCC 0.537000 26 45 4.43304e-23 5.69341e-23 0.006320 1 0 RAPGEF6 51735 broad.mit.edu 37 5 130897676 130897676 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:130897676T>A ENST00000509018.1 - 5 551 c.346A>T c.(346-348)Att>Ttt p.I116F RAPGEF6_ENST00000296859.6_Missense_Mutation_p.I116F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.I116F|RAPGEF6_ENST00000503398.2_Intron|FNIP1_ENST00000514667.1_Missense_Mutation_p.I166F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.I116F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.I116F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.I116F NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 116 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CTTACCACAATCATTTCTGAA 0.303000 14 43 0 0 0.006122 0 0 RELN 5649 broad.mit.edu 37 7 103163863 103163863 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:103163863C>T ENST00000428762.1 - 47 7624 c.7465G>A c.(7465-7467)Ggg>Agg p.G2489R RELN_ENST00000343529.5_Missense_Mutation_p.G2489R|RELN_ENST00000424685.2_Missense_Mutation_p.G2489R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2489 EGF-like 6. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATGCATCTCCCATGGCCACTG 0.458000 42 63 0 0 0.010771 0 0 TCP11 6954 broad.mit.edu 37 6 35088707 35088707 + Nonsense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:35088707C>A ENST00000311875.5 - 6 1150 c.733G>T c.(733-735)Gaa>Taa p.E245* TCP11_ENST00000244645.3_Nonsense_Mutation_p.E170*|TCP11_ENST00000512012.1_Nonsense_Mutation_p.E232*|TCP11_ENST00000418521.2_Nonsense_Mutation_p.E169*|TCP11_ENST00000412155.2_Nonsense_Mutation_p.E194*|TCP11_ENST00000373974.4_Nonsense_Mutation_p.E199*|TCP11_ENST00000444780.2_Nonsense_Mutation_p.E240*|TCP11_ENST00000373979.2_Nonsense_Mutation_p.E170* Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 232 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 TTGAGGAGTTCCTGGAATTTA 0.443000 94 276 1.40862e-40 1.86393e-40 0.014410 1 0 MRGPRX2 117194 broad.mit.edu 37 11 19077367 19077367 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:19077367A>C ENST00000329773.2 - 2 670 c.583T>G c.(583-585)Ttc>Gtc p.F195V NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 195 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 AGAACCATGAATAAAAAAATC 0.512000 18 13 0 0 0.004990 0 0 ILDR2 387597 broad.mit.edu 37 1 166892037 166892037 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:166892037G>C ENST00000271417.3 - 8 1059 c.1004C>G c.(1003-1005)aCc>aGc p.T335S ILDR2_ENST00000526687.1_Missense_Mutation_p.T227S|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.T316S|ILDR2_ENST00000525740.1_Missense_Mutation_p.T208S|ILDR2_ENST00000528703.1_Missense_Mutation_p.T276S|ILDR2_ENST00000469934.2_Missense_Mutation_p.T335S NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 335 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 TTCTGAGATGGTGTTGTTATC 0.478000 32 72 0 0 0.010818 0 0 OVCA2 124641 broad.mit.edu 37 17 1945365 1945365 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:1945365G>A ENST00000572195.1 + 1 39 c.24G>A c.(22-24)cgG>cgA p.R8R DPH1_ENST00000263083.6_Intron|DPH1_ENST00000570477.1_Intron NM_080822.2 NP_543012.1 Q8WZ82 OVCA2_HUMAN ovarian tumor suppressor candidate 2 8 response to retinoic acid cytoplasm hydrolase activity GACCCCTGCGGGTCCTGTGCC 0.716000 OREG0024078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 4 0 0 0.013537 0 0 SH3BP4 23677 broad.mit.edu 37 2 235949783 235949783 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:235949783A>G ENST00000409212.1 + 4 877 c.370A>G c.(370-372)Atg>Gtg p.M124V SH3BP4_ENST00000392011.2_Missense_Mutation_p.M124V|SH3BP4_ENST00000344528.4_Missense_Mutation_p.M124V Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 124 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) TGACAGCGGTATGATTGATAA 0.527000 17 41 0 0 0.004990 0 0 COL11A1 1301 broad.mit.edu 37 1 103364525 103364525 + Missense_Mutation SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:103364525T>C ENST00000358392.2 - 55 4465 c.4148A>G c.(4147-4149)gAg>gGg p.E1383G COL11A1_ENST00000512756.1_Missense_Mutation_p.E1255G|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1371G|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1332G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1371 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGTCTTCCCTCTGCACCTGC 0.274000 7 10 0 0 0.006214 0 0 CFH 3075 broad.mit.edu 37 1 196648779 196648779 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:196648779A>G ENST00000367429.4 + 6 886 c.646A>G c.(646-648)Ata>Gta p.I216V CFH_ENST00000439155.2_Missense_Mutation_p.I216V|CFH_ENST00000359637.2_Missense_Mutation_p.I152V NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 216 Sushi 4. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CCCAGATGTTATAAATGGATC 0.299000 6 17 0 0 0.001168 0 0 KPRP 448834 broad.mit.edu 37 1 152732519 152732519 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:152732519A>T ENST00000368773.1 + 2 513 c.455A>T c.(454-456)aAc>aTc p.N152I KPRP_ENST00000606109.1_Missense_Mutation_p.N152I NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 152 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGTCCAGAACTATGTACCC 0.502000 48 107 0 0 0.011902 0 0 POU6F1 5463 broad.mit.edu 37 12 51590624 51590624 + Translation_Start_Site SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:51590624C>T ENST00000389243.4 - 7 942 c.3G>A c.(1-3)atG>atA p.M1I POU6F1_ENST00000333640.10_Start_Codon_SNP_p.M1I|POU6F1_ENST00000550824.1_Start_Codon_SNP_p.M1I Q14863 PO6F1_HUMAN POU class 6 homeobox 1 1 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 TGATCCCTGGCATGCTGGGAA 0.612000 6 84 0 0 0.001168 0 0 ZNF608 57507 broad.mit.edu 37 5 124080411 124080411 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:124080411G>C ENST00000306315.5 - 1 707 c.272C>G c.(271-273)tCt>tGt p.S91C NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 91 intracellular zinc ion binding p.S91F(1) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CTGGGGAGCAGAGGCCTGAAC 0.498000 4 61 0 0 0.009096 0 0 KIF21B 23046 broad.mit.edu 37 1 200978555 200978555 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:200978555G>A ENST00000332129.2 - 2 419 c.103C>T c.(103-105)Ccg>Tcg p.P35S KIF21B_ENST00000360529.5_Missense_Mutation_p.P35S|KIF21B_ENST00000422435.2_Missense_Mutation_p.P35S|KIF21B_ENST00000461742.2_Missense_Mutation_p.P35S NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 35 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGCTCTCCCGGGGTAACAGAG 0.577000 4 78 0 0 0.001168 0 0 GATA3 2625 broad.mit.edu 37 10 8097767 8097767 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:8097767T>A ENST00000379328.3 + 2 717 c.149T>A c.(148-150)cTt>cAt p.L50H GATA3_ENST00000346208.3_Missense_Mutation_p.L50H NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 50 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 GTGGATGTGCTTTTTAACATC 0.657000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 6 3 0 0 0.001984 0 0 NEFM 4741 broad.mit.edu 37 8 24772151 24772151 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:24772151A>G ENST00000221166.5 + 1 1627 c.845A>G c.(844-846)gAc>gGc p.D282G NEFM_ENST00000437366.2_Missense_Mutation_p.D282G|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.D282G|NEFM_ENST00000521540.1_3'UTR P07197 NFM_HUMAN neurofilament, medium polypeptide 282 Coil 2A.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AGCCACTCAGACCAGAATATG 0.587000 9 72 0 0 0.006214 0 0 LOC102723924 102723924 broad.mit.edu 37 1 41730644 41730645 + RNA INS - - T rs35691145 TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:41730644_41730645insT ENST00000445073.1 + 0 132 ATCTGAGCTGCttttttttttt 0.470 2 4 --- --- --- --- CELSR2 1952 broad.mit.edu 37 1 109795741 109795743 + In_Frame_Del DEL CTT CTT - rs115856488 byFrequency TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:109795741_109795743delCTT ENST00000271332.3 + 1 3101_3103 c.3040_3042delCTT c.(3040-3042)del p.L1014del NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1014 Cadherin 8. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CGTCCGCCTCCTTGACCGCAATG 0.581 27 73 --- --- --- --- CEPT1 10390 broad.mit.edu 37 1 111726202 111726203 + Frame_Shift_Del DEL TT TT - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:111726202_111726203delTT ENST00000545121.1 + 8 1332_1333 c.1124_1125delTT c.(1123-1125)afs p.I375fs CEPT1_ENST00000467362.1_3'UTR|CEPT1_ENST00000357172.4_Frame_Shift_Del_p.I375fs NM_001007794.1 NP_001007795.1 Q9Y6K0 CEPT1_HUMAN choline/ethanolamine phosphotransferase 1 375 endoplasmic reticulum membrane|integral to membrane|nuclear membrane diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141) Choline(DB00122) GTACTTTGGATTGCCCTGGTAA 0.361 25 78 --- --- --- --- TNR 7143 broad.mit.edu 37 1 175372692 175372692 + Frame_Shift_Del DEL C C - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:175372692delC ENST00000367674.1 - 4 1268 c.560delG c.(559-561)gcfs p.G187fs TNR_ENST00000263525.2_Frame_Shift_Del_p.G187fs NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 187 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GCAGATGCAGCCACAGGACTC 0.577 20 128 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723322 49723327 + In_Frame_Del DEL GCGCTG GCGCTG - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:49723322_49723327delGCGCTG ENST00000449682.2 - 10 1577_1582 c.1216_1221delCAGCGC c.(1216-1221)del p.QR406del MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 392 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCGGACCAGCGCTGGCACTGGACA 0.704 8 103 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 8 10 --- --- --- --- CMBL 134147 broad.mit.edu 37 5 10286575 10286580 + In_Frame_Del DEL TTGTTT TTGTTT - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:10286575_10286580delTTGTTT ENST00000296658.3 - 4 772_777 c.352_357delAAACAA c.(352-357)del p.KQ118del CMBL_ENST00000510532.1_5'UTR NM_138809.3 NP_620164.1 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase homolog (Pseudomonas) 118 cytosol hydrolase activity|protein binding endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1) 13 CATGACACTGTTGTTTCAGATACTTC 0.422 7 31 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176638656 176638662 + Frame_Shift_Del DEL AGTAAAG AGTAAAG - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:176638656_176638662delAGTAAAG ENST00000439151.2 + 5 3301_3307 c.3256_3262delAGTAAAG c.(3256-3264)agfs p.SKE1086fs NSD1_ENST00000354179.4_Frame_Shift_Del_p.SKE817fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.SKE983fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.SKE817fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1086 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGAAGATCCTAGTAAAGAGGATCCCCT 0.449 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 66 24 --- --- --- --- TRPS1 7227 broad.mit.edu 37 8 116616583 116616584 + Frame_Shift_Ins INS - - A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:116616583_116616584insA ENST00000395715.3 - 4 2189_2190 c.1612_1613insT c.(1612-1614)tcafs p.S538fs TRPS1_ENST00000220888.5_Frame_Shift_Ins_p.S525fs|TRPS1_ENST00000519674.1_Frame_Shift_Ins_p.S525fs|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.S529fs NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 525 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ACAGAACTGACAATTATAGCTC 0.460 Langer-Giedion syndrome 130 65 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 3 5 --- --- --- --- GPR123 84435 broad.mit.edu 37 10 134902448 134902449 + Frame_Shift_Ins INS - - G rs145811832 by1000genomes TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:134902448_134902449insG ENST00000607359.1 + 9 1667_1668 c.1667_1668insG c.(1666-1668)cggfs p.R556fs GPR123_ENST00000392607.3_Intron Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GTCCTGCAGCTGGGGGCTAGGC 0.693 3 5 --- --- --- --- FRY 10129 broad.mit.edu 37 13 32798467 32798468 + Frame_Shift_Ins INS - - C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:32798467_32798468insC ENST00000380250.3 + 37 5357_5358 c.4861_4862insC c.(4861-4863)cccfs p.P1621fs NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1621 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGGATGCTGGGCCCCCCTGGTT 0.569 41 54 --- --- --- --- RASA3 22821 broad.mit.edu 37 13 114839224 114839225 + Frame_Shift_Ins INS - - A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:114839224_114839225insA ENST00000334062.7 - 2 264_265 c.143_144insT c.(142-144)tagfs p.*48fs RASA3_ENST00000542651.1_Frame_Shift_Ins_p.*48fs|RASA3_ENST00000389544.4_Frame_Shift_Ins_p.*16fs NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 48 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TTTTGGTCCTGAAAACCTCCTC 0.465 28 82 --- --- --- --- SPG11 80208 broad.mit.edu 37 15 44941194 44941195 + Frame_Shift_Del DEL AG AG - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr15:44941194_44941195delAG ENST00000261866.7 - 7 1487_1488 c.1471_1472delCT c.(1471-1473)gfs p.L491fs SPG11_ENST00000535302.2_Frame_Shift_Del_p.L491fs|SPG11_ENST00000559193.1_Frame_Shift_Del_p.L491fs|SPG11_ENST00000427534.2_Frame_Shift_Del_p.L491fs|SPG11_ENST00000558319.1_Frame_Shift_Del_p.L491fs NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 491 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AAACAAAATCAGAGAGAGTCCA 0.337 12 21 --- --- --- --- PDPK1 5170 broad.mit.edu 37 16 2611896 2611899 + Frame_Shift_Del DEL CGAC CGAC - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:2611896_2611899delCGAC ENST00000342085.4 + 4 602_605 c.453_456delCGAC c.(451-456)gafs p.DD151fs PDPK1_ENST00000441549.3_Frame_Shift_Del_p.DD151fs|PDPK1_ENST00000268673.7_Intron|RP11-20I23.8_ENST00000569852.1_RNA|PDPK1_ENST00000389224.3_Frame_Shift_Del_p.DD124fs|PDPK1_ENST00000354836.5_Frame_Shift_Del_p.DD151fs NM_002613.4 NP_002604.1 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase-1 151 Protein kinase. actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 Ovarian(90;0.17) Celecoxib(DB00482) CATTTCAGGACGACGAGAAGCTGT 0.520 2 4 --- --- --- --- G6PC 2538 broad.mit.edu 37 17 41056042 41056043 + Frame_Shift_Del DEL TG TG - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:41056042_41056043delTG ENST00000253801.2 + 2 404_405 c.325_326delTG c.(325-327)tfs p.C109fs G6PC_ENST00000592383.1_Frame_Shift_Del_p.C109fs|G6PC_ENST00000585489.1_Frame_Shift_Del_p.C109fs NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 109 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) CCCTGTAACCTGTGAGACTGGA 0.515 34 66 --- --- --- --- PAX1 5075 broad.mit.edu 37 20 21695398 21695398 + Frame_Shift_Del DEL T T - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr20:21695398delT ENST00000398485.2 + 5 1616 c.1562delT c.(1561-1563)ctfs p.L521fs PAX1_ENST00000444366.2_3'UTR NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 521 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CCACACTTCCTTTATTGGTCT 0.637 15 44 --- --- --- --- RIPK4 54101 broad.mit.edu 37 21 43166897 43166898 + Frame_Shift_Ins INS - - A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr21:43166897_43166898insA ENST00000352483.2 - 5 771_772 c.707_708insT c.(706-708)ggtfs p.G236fs RIPK4_ENST00000544709.1_Frame_Shift_Ins_p.G173fs|RIPK4_ENST00000542057.1_Frame_Shift_Ins_p.G173fs|RIPK4_ENST00000332512.3_Frame_Shift_Ins_p.G236fs Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 236 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GGCCCTTCACCACCTTCACCAT 0.663 16 149 --- --- --- ---