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 LRRTM3 347731 broad.mit.edu 37 10 68687991 68687991 + Nonsense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:68687991C>G ENST00000361320.4 + 2 1895 c.1317C>G c.(1315-1317)taC>taG p.Y439* CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 439 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 TGGTTATCTACGTGTCATGGA 0.542000 26 86 0 0 0.021523 0 0 ANK3 288 broad.mit.edu 37 10 61828625 61828625 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:61828625C>T ENST00000280772.1 - 37 12205 c.12014G>A c.(12013-12015)gGt>gAt p.G4005D ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4005 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TAAGGTCTCACCACTAATTCC 0.433000 38 88 0 0 0.023175 0 0 FAM135B 51059 broad.mit.edu 37 8 139263091 139263091 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:139263091A>G ENST00000395297.1 - 6 705 c.535T>C c.(535-537)Ttg>Ctg p.L179L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 179 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TACCTGATCAATGGCTGCTGC 0.562000 HNSCC(54;0.14) 30 50 0 0 0.010818 0 0 PAK7 57144 broad.mit.edu 37 20 9561116 9561116 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:9561116G>T ENST00000378429.3 - 5 1212 c.666C>A c.(664-666)gcC>gcA p.A222A PAK7_ENST00000378423.1_Silent_p.A222A|PAK7_ENST00000353224.5_Silent_p.A222A NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 222 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) AGCTACTCGAGGCTCTCTGAT 0.488000 20 43 2.39187e-15 3.18745e-15 0.008871 1 0 GRM8 2918 broad.mit.edu 37 7 126173021 126173021 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:126173021G>T ENST00000339582.2 - 9 3223 c.2415C>A c.(2413-2415)gcC>gcA p.A805A GRM8_ENST00000444921.2_Silent_p.A805A|GRM8_ENST00000358373.3_Silent_p.A805A O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 805 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTGCTGACTGGGCTGTACCAA 0.388000 HNSCC(24;0.065) 18 23 1.67942e-08 1.94012e-08 0.006122 1 0 CCDC130 81576 broad.mit.edu 37 19 13869957 13869957 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:13869957G>T ENST00000586600.1 + 9 947 c.444G>T c.(442-444)cgG>cgT p.R148R CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Silent_p.R148R P13994 CC130_HUMAN coiled-coil domain containing 130 148 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) CCATGTTCCGGCTGGAGCATG 0.652000 4 10 0.00909568 0.00931398 0.009096 1 0 PHTF2 57157 broad.mit.edu 37 7 77569410 77569410 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:77569410G>A ENST00000416283.2 + 12 1555 c.1429G>A c.(1429-1431)Ggt>Agt p.G477S PHTF2_ENST00000424760.1_Missense_Mutation_p.G473S|PHTF2_ENST00000248550.7_Missense_Mutation_p.G511S|PHTF2_ENST00000422959.2_Missense_Mutation_p.G477S|PHTF2_ENST00000307305.8_Missense_Mutation_p.G473S|PHTF2_ENST00000275575.7_Missense_Mutation_p.G473S NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 TCTCATACTGGGTTTAACTCC 0.408000 21 59 0 0 0.008871 0 0 KCNU1 157855 broad.mit.edu 37 8 36776389 36776389 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:36776389G>A ENST00000399881.3 + 23 2607 c.2570G>A c.(2569-2571)cGa>cAa p.R857Q NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 857 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCAAACTGCCGAAAAGTCCCT 0.358000 17 84 0 0 0.006122 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100492321 100492321 + Splice_Site SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:100492321T>C ENST00000279907.7 - 5 551 c.e5-2 UHRF1BP1L_ENST00000356828.3_Splice_Site NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 CCGTATTCACTGGAAAAACAA 0.328000 16 23 0 0 0.024245 0 0 SASH1 23328 broad.mit.edu 37 6 148867161 148867161 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:148867161G>T ENST00000367467.3 + 19 3834 c.3359G>T c.(3358-3360)tGt>tTt p.C1120F NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1120 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CATGGCCGCTGTGGGATTCCT 0.522000 39 19 1.7489e-18 2.41228e-18 0.011902 1 0 PTPRO 5800 broad.mit.edu 37 12 15654948 15654948 + Silent SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:15654948C>G ENST00000281171.4 + 5 1386 c.1056C>G c.(1054-1056)ccC>ccG p.P352P PTPRO_ENST00000348962.2_Silent_p.P352P|PTPRO_ENST00000543886.1_Silent_p.P352P NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 352 Fibronectin type-III 4. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GGTTACCACCCAAACCACCCA 0.418000 21 63 0 0 0.010504 0 0 BRCA2 675 broad.mit.edu 37 13 32907114 32907114 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr13:32907114G>T ENST00000544455.1 + 10 1726 c.1499G>T c.(1498-1500)gGt>gTt p.G500V BRCA2_ENST00000380152.3_Missense_Mutation_p.G500V NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 500 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCATTTCAGGGTATCAAAAAG 0.363000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 25 33 4.26978e-12 5.36868e-12 0.018920 1 0 ELANE 1991 broad.mit.edu 37 19 852883 852883 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:852883G>A ENST00000590230.1 + 3 216 c.75G>A c.(73-75)gcG>gcA p.A25A ELANE_ENST00000263621.1_Silent_p.A25A P08246 ELNE_HUMAN elastase, neutrophil expressed 25 A -> V (in SCN1). cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) CAGGCACCGCGCTGGCCTCGG 0.741000 11 8 0 0 0.010729 0 0 VPS13B 157680 broad.mit.edu 37 8 100523713 100523713 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:100523713A>T ENST00000358544.2 + 29 4792 c.4681A>T c.(4681-4683)Aca>Tca p.T1561S VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T1536S NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1561 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TATTCCAAAAACAGAAGAAAT 0.343000 13 25 0 0 0.020292 0 0 ANKRD52 283373 broad.mit.edu 37 12 56641850 56641850 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:56641850G>A ENST00000267116.7 - 18 2056 c.1935C>T c.(1933-1935)ctC>ctT p.L645L NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 645 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 GCTCCTTGATGAGGGCAGAGG 0.632000 11 19 0 0 0.008291 0 0 NPY1R 4886 broad.mit.edu 37 4 164247365 164247365 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:164247365C>G ENST00000296533.2 - 2 873 c.342G>C c.(340-342)aaG>aaC p.K114N NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 114 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AAGGATTCAACTTACACATCG 0.443000 19 46 0 0 0.007413 0 0 DDX60L 91351 broad.mit.edu 37 4 169305796 169305796 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:169305796G>T ENST00000511577.1 - 30 4330 c.4083C>A c.(4081-4083)tcC>tcA p.S1361S DDX60L_ENST00000260184.7_Silent_p.S1361S Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1361 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CATCTCCCTTGGAAGCCAGCA 0.547000 10 22 9.70103e-10 1.15403e-09 0.008291 1 0 NELL2 4753 broad.mit.edu 37 12 45173741 45173741 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:45173741G>A ENST00000429094.2 - 4 904 c.400C>T c.(400-402)Cac>Tac p.H134Y NELL2_ENST00000437801.2_Missense_Mutation_p.H184Y|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000551601.1_Missense_Mutation_p.H133Y|NELL2_ENST00000549027.1_Missense_Mutation_p.H133Y|NELL2_ENST00000452445.2_Missense_Mutation_p.H134Y|NELL2_ENST00000333837.4_Missense_Mutation_p.H157Y|NELL2_ENST00000395487.2_Missense_Mutation_p.H133Y NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 134 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TGAGGGCGGTGACTGCCTGAG 0.473000 32 79 0 0 0.010818 0 0 SERGEF 26297 broad.mit.edu 37 11 18010157 18010157 + Silent SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:18010157C>G ENST00000265965.5 - 8 982 c.831G>C c.(829-831)ctG>ctC p.L277L SERGEF_ENST00000532265.1_Silent_p.L163L|SERGEF_ENST00000528200.1_Silent_p.L277L NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 277 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 TCTGAGCAACCAGGTGTGTCC 0.507000 26 43 0 0 0.006320 0 0 MMP10 4319 broad.mit.edu 37 11 102649421 102649421 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:102649421G>A ENST00000279441.4 - 4 592 c.556C>T c.(556-558)Cct>Tct p.P186S NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 186 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) CCAGGTCCAGGTGGGTAGGCA 0.423000 23 42 0 0 0.016522 0 0 NSA2 10412 broad.mit.edu 37 5 74069717 74069717 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:74069717G>C ENST00000296802.5 + 5 916 c.547G>C c.(547-549)Gta>Cta p.V183L NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 183 rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 GAAAGCCCATGTAACACATCC 0.403000 31 20 0 0 0.009535 0 0 BPIFB1 92747 broad.mit.edu 37 20 31877739 31877739 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:31877739G>T ENST00000253354.1 + 4 467 c.306G>T c.(304-306)tcG>tcT p.S102S NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 102 extracellular space lipid binding TGAAGCCCTCGGCCAATGACC 0.542000 17 47 9.16793e-09 1.06488e-08 0.004990 1 0 NFATC1 4772 broad.mit.edu 37 18 77170505 77170505 + Missense_Mutation SNP C C T rs143045693 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:77170505C>T ENST00000253506.5 + 2 599 c.230C>T c.(229-231)cCg>cTg p.P77L NFATC1_ENST00000427363.2_Missense_Mutation_p.P77L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P77L|NFATC1_ENST00000329101.4_Missense_Mutation_p.P64L|NFATC1_ENST00000318065.5_Missense_Mutation_p.P64L|NFATC1_ENST00000586434.1_Missense_Mutation_p.P64L|NFATC1_ENST00000591814.1_Missense_Mutation_p.P77L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000592223.1_Missense_Mutation_p.P64L|NFATC1_ENST00000542384.1_Missense_Mutation_p.P77L NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 77 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) ACCTCCACACCGGGCATCATC 0.692000 32 37 0 0 0.013726 0 0 CALHM1 255022 broad.mit.edu 37 10 105218107 105218107 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:105218107G>A ENST00000329905.5 - 1 538 c.402C>T c.(400-402)ccC>ccT p.P134P RP11-225H22.4_ENST00000411906.1_RNA NM_001001412.3 NP_001001412.3 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 134 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding large_intestine(2)|liver(1)|lung(5)|ovary(1) 9 GTGCGCTCACGGGCACGGCAG 0.706000 10 17 0 0 0.008291 0 0 KRTAP6-2 337967 broad.mit.edu 37 21 31971084 31971084 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:31971084C>G ENST00000334897.3 - 1 135 c.110G>C c.(109-111)tGc>tCc p.C37S NM_181604.1 NP_853635.1 Q3LI66 KRA62_HUMAN keratin associated protein 6-2 37 intermediate filament endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 ATAGCCACAGCAGGAGCTATA 0.562000 14 39 0 0 0.028581 0 0 ENPP3 5169 broad.mit.edu 37 6 132043384 132043384 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:132043384C>A ENST00000414305.1 + 19 1913 c.1585C>A c.(1585-1587)Cca>Aca p.P529T ENPP3_ENST00000357639.3_Missense_Mutation_p.P529T|ENPP3_ENST00000358229.5_Missense_Mutation_p.P529T O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 529 immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) ACGCATTCAACCAGCACCAAA 0.408000 29 23 3.67414e-24 5.3442e-24 0.012213 1 0 MME 4311 broad.mit.edu 37 3 154802866 154802866 + Nonsense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:154802866C>G ENST00000460393.1 + 3 299 c.179C>G c.(178-180)tCa>tGa p.S60* MME_ENST00000360490.2_Nonsense_Mutation_p.S60*|MME_ENST00000492661.1_Nonsense_Mutation_p.S60*|MME_ENST00000493237.1_Nonsense_Mutation_p.S60*|MME_ENST00000462745.1_Nonsense_Mutation_p.S60*|MME_ENST00000382989.3_Nonsense_Mutation_p.S60* NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 60 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) tgcaagtcatcagactgcata 0.244000 42 12 0 0 0.009718 0 0 OR4D2 124538 broad.mit.edu 37 17 56247544 56247544 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:56247544C>T ENST00000545221.1 + 1 528 c.528C>T c.(526-528)aaC>aaT p.N176N NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TTTTGGATAACTTCTACTGTG 0.547000 48 99 0 0 0.014410 0 0 FCGR3B 2215 broad.mit.edu 37 1 161599754 161599754 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:161599754G>C ENST00000294800.3 - 3 406 c.133C>G c.(133-135)Ctg>Gtg p.L45V FCGR3B_ENST00000367964.2_Missense_Mutation_p.L45V|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.L81V NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 45 Ig-like C2-type 1. immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGGCACTTCAGAGTCACACTG 0.532000 24 74 0 0 0.027356 0 0 IGHG1 3500 broad.mit.edu 37 14 106208281 106208281 + RNA SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:106208281A>G ENST00000390548.2 - 0 618 GCTTTGTTGGAGACCTTGCAC 0.627000 56 180 0 0 0.014410 0 0 PALLD 23022 broad.mit.edu 37 4 169630280 169630280 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:169630280C>A ENST00000335742.7 + 9 1814 c.457C>A c.(457-459)Cag>Aag p.Q153K PALLD_ENST00000261509.6_Missense_Mutation_p.Q535K|PALLD_ENST00000512127.1_Missense_Mutation_p.Q153K|PALLD_ENST00000505667.1_Missense_Mutation_p.Q535K Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 535 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CAGCACTGCCCAGCTGGTTGT 0.498000 Pancreatic Cancer, Familial Clustering of 23 45 9.57634e-11 1.1674e-10 0.018920 1 0 CLSTN2 64084 broad.mit.edu 37 3 140167468 140167468 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:140167468A>T ENST00000458420.3 + 6 1085 c.895A>T c.(895-897)Aca>Tca p.T299S NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 299 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCAGATCGTCACAGAGCTGCA 0.532000 HNSCC(16;0.037) 35 127 0 0 0.025465 0 0 PCDHA8 56140 broad.mit.edu 37 5 140223346 140223346 + Silent SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140223346T>C ENST00000378123.3 + 1 2440 c.2440T>C c.(2440-2442)Ttg>Ctg p.L814L PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron NM_031856.1 NP_114062.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTGTGGAAATTGTAGTTACT 0.274000 23 20 0 0 0.018920 0 0 FER1L6 654463 broad.mit.edu 37 8 124978246 124978246 + Splice_Site SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:124978246G>A ENST00000522917.1 + 4 403 c.e4-1 FER1L6_ENST00000399018.1_Splice_Site NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) integral to membrane p.?(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCTTTTAATAGATCAAAACTG 0.358000 6 21 0 0 0.001984 0 0 THUMPD2 80745 broad.mit.edu 37 2 39971589 39971589 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:39971589T>C ENST00000505747.1 - 9 1135 c.1108A>G c.(1108-1110)Att>Gtt p.I370V THUMPD2_ENST00000260619.6_Missense_Mutation_p.I340V NM_025264.4 NP_079540.2 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 370 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) GAAATAATAATATCAACACTT 0.279000 16 30 0 0 0.007413 0 0 ZBBX 79740 broad.mit.edu 37 3 167068208 167068208 + Splice_Site SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:167068208C>A ENST00000392766.2 - 9 868 c.528_splice c.e9+1 p.Q176_splice ZBBX_ENST00000392764.1_Splice_Site_p.Q147_splice|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Splice_Site_p.Q176_splice|ZBBX_ENST00000392767.2_Splice_Site_p.Q176_splice|ZBBX_ENST00000455345.2_Splice_Site_p.Q176_splice NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 176 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 AAAGCCATACCTGCAAAAGAG 0.343000 53 242 8.13277e-46 1.25724e-45 0.014410 1 0 SEPHS1 22929 broad.mit.edu 37 10 13378324 13378324 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:13378324G>A ENST00000327347.5 - 4 699 c.324C>T c.(322-324)ctC>ctT p.L108L SEPHS1_ENST00000378614.4_Silent_p.L108L|SEPHS1_ENST00000545675.1_Silent_p.L108L|SEPHS1_ENST00000537130.1_Silent_p.L41L NM_001195602.1|NM_012247.4 NP_001182531.1|NP_036379.2 P49903 SPS1_HUMAN selenophosphate synthetase 1 108 protein modification process ATP binding|GTP binding|selenide, water dikinase activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 AGAGGTCACTGAGGACATTGG 0.517000 10 69 0 0 0.010729 0 0 FAT3 120114 broad.mit.edu 37 11 92087428 92087428 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:92087428C>T ENST00000298047.6 + 1 2167 c.2150C>T c.(2149-2151)tCa>tTa p.S717L FAT3_ENST00000525166.1_Missense_Mutation_p.S567L|FAT3_ENST00000541502.1_Missense_Mutation_p.S717L|FAT3_ENST00000409404.2_Missense_Mutation_p.S717L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 717 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GACTTTTATTCAATTAATAGA 0.398000 TCGA Ovarian(4;0.039) 49 145 0 0 0.014410 0 0 WNK1 65125 broad.mit.edu 37 12 977384 977384 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:977384A>G ENST00000537687.1 + 9 3135 c.2492A>G c.(2491-2493)tAt>tGt p.Y831C WNK1_ENST00000530271.2_Missense_Mutation_p.Y916C|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.Y130C|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000535572.1_Intron NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 0 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TACAGTGACTATAGACCTGGA 0.463000 7 11 0 0 0.001984 0 0 SLC22A2 6582 broad.mit.edu 37 6 160668217 160668217 + Splice_Site SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:160668217T>G ENST00000366952.1 - 7 2374 c.894_splice c.e7+1 p.Q298_splice SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Splice_Site_p.Q319_splice O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 319 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CTGGCTCACCTGAAGGGAGGC 0.488000 50 27 0 0 0.014410 0 0 SPAG11A 653423 broad.mit.edu 37 8 7717939 7717939 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:7717939G>T ENST00000434307.2 + 3 452 c.285G>T c.(283-285)tgG>tgT p.W95C SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000454911.2_Missense_Mutation_p.W42C|SPAG11A_ENST00000326558.5_Intron|SPAG11A_ENST00000326625.5_Intron sperm associated antigen 11A central_nervous_system(1)|lung(2) 3 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) GGCCTAGATGGGCCAGGTGAG 0.448000 14 52 0.000219431 0.00023098 0.020292 1 0 MAD1L1 8379 broad.mit.edu 37 7 1937853 1937853 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:1937853C>T ENST00000406869.1 - 18 2538 c.1981G>A c.(1981-1983)Gac>Aac p.D661N MAD1L1_ENST00000265854.7_Missense_Mutation_p.D661N|MAD1L1_ENST00000402746.1_Missense_Mutation_p.D569N|MAD1L1_ENST00000399654.2_Missense_Mutation_p.D661N Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 661 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) ATGAGGCAGTCGCCTGGGTGC 0.627000 4 9 0 0 0.009096 0 0 OR2T11 127077 broad.mit.edu 37 1 248790416 248790416 + Nonsense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:248790416G>C ENST00000330803.2 - 1 75 c.14C>G c.(13-15)tCa>tGa p.S5* NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTCAGAGGATGATGTGTTCGT 0.547000 17 44 0 0 0.006122 0 0 ATAD3B 83858 broad.mit.edu 37 1 1430870 1430870 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:1430870G>A ENST00000308647.7 + 16 1736 c.1620G>A c.(1618-1620)acG>acA p.T540T NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 540 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ACTAGGCCACGGCATATGCCT 0.632000 23 15 0 0 0.012319 0 0 RFPL1 5988 broad.mit.edu 37 22 29835041 29835041 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:29835041G>A ENST00000354373.2 + 1 470 c.261G>A c.(259-261)aaG>aaA p.K87K RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 87 zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TCTCTCAGAAGAACAAAATCA 0.517000 28 70 0 0 0.007291 0 0 DRD2 1813 broad.mit.edu 37 11 113295162 113295162 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:113295162T>A ENST00000362072.3 - 2 556 c.212A>T c.(211-213)tAc>tTc p.Y71F DRD2_ENST00000544518.1_Missense_Mutation_p.Y71F|DRD2_ENST00000542968.1_Missense_Mutation_p.Y71F|DRD2_ENST00000538967.1_Missense_Mutation_p.Y71F|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.Y71F|DRD2_ENST00000346454.3_Missense_Mutation_p.Y71F NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 71 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GACGATCAGGTAGTTGGTGGT 0.637000 16 38 0 0 0.006122 0 0 AVPR1B 553 broad.mit.edu 37 1 206224591 206224591 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:206224591G>C ENST00000367126.4 + 1 616 c.151G>C c.(151-153)Ggc>Cgc p.G51R NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 51 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) GGCGACCGGGGGCAACCTGGC 0.682000 21 59 0 0 0.016522 0 0 CDH11 1009 broad.mit.edu 37 16 65022110 65022110 + Nonsense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:65022110C>A ENST00000394156.3 - 7 1402 c.949G>T c.(949-951)Gaa>Taa p.E317* CDH11_ENST00000268603.4_Nonsense_Mutation_p.E317*|CDH11_ENST00000566827.1_Nonsense_Mutation_p.E191* P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 317 Cadherin 3. 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) GTTGTGATTTCAAACGATTCC 0.443000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 71 106 9.42754e-34 1.43658e-33 0.014410 1 0 MAP1A 4130 broad.mit.edu 37 15 43821049 43821049 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:43821049T>A ENST00000382031.1 + 5 8123 c.8092T>A c.(8092-8094)Tcc>Acc p.S2698T MAP1A_ENST00000399453.1_Missense_Mutation_p.S2460T|MAP1A_ENST00000300231.5_Missense_Mutation_p.S2460T P78559 MAP1A_HUMAN microtubule-associated protein 1A 2460 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TCTGCCCCCATCCATAGATGA 0.662000 25 16 0 0 0.016522 0 0 TNIK 23043 broad.mit.edu 37 3 170843830 170843830 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:170843830C>A ENST00000436636.2 - 17 2228 c.1884G>T c.(1882-1884)gtG>gtT p.V628V TNIK_ENST00000369326.5_Silent_p.V599V|TNIK_ENST00000357327.5_Silent_p.V599V|TNIK_ENST00000341852.6_Silent_p.V544V|TNIK_ENST00000284483.8_Silent_p.V628V|TNIK_ENST00000488470.1_Silent_p.V573V|TNIK_ENST00000475336.1_Silent_p.V544V|TNIK_ENST00000470834.1_Silent_p.V599V|TNIK_ENST00000538048.1_Silent_p.V573V|TNIK_ENST00000460047.1_Silent_p.V573V NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 628 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GGTGGGAGGTCACGTTCAGAG 0.577000 18 83 0.00121646 0.00126386 0.008871 1 0 SCN9A 6335 broad.mit.edu 37 2 167056252 167056252 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:167056252G>T ENST00000375387.4 - 27 5240 c.4900C>A c.(4900-4902)Ctg>Atg p.L1634M AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.L1622M|SCN9A_ENST00000303354.6_Missense_Mutation_p.L1634M|SCN9A_ENST00000409435.1_Missense_Mutation_p.L1633M Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1633 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GCAAAGAGCAGCGTGCGGATC 0.502000 54 109 1.0442e-30 1.57987e-30 0.014410 1 0 RBFOX1 54715 broad.mit.edu 37 16 7629790 7629790 + Silent SNP C C T rs145861898 byFrequency TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:7629790C>T ENST00000340209.4 + 3 594 c.297C>T c.(295-297)gaC>gaT p.D99D RBFOX1_ENST00000436368.2_Silent_p.D114D|RBFOX1_ENST00000553186.1_Silent_p.D94D|RBFOX1_ENST00000550418.1_Silent_p.D94D|RBFOX1_ENST00000422070.4_Silent_p.D137D|RBFOX1_ENST00000547338.1_Silent_p.D94D|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Silent_p.D129D|RBFOX1_ENST00000547372.1_Silent_p.D137D|RBFOX1_ENST00000355637.4_Silent_p.D114D|RBFOX1_ENST00000311745.5_Silent_p.D114D Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 94 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AGACAGATGACGCAGCACCGA 0.517000 40 56 0 0 0.007835 0 0 CNTN5 53942 broad.mit.edu 37 11 99944884 99944884 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:99944884C>A ENST00000524871.1 + 13 1728 c.1438C>A c.(1438-1440)Ccc>Acc p.P480T CNTN5_ENST00000528682.1_Missense_Mutation_p.P480T|CNTN5_ENST00000527185.1_Missense_Mutation_p.P480T|CNTN5_ENST00000279463.3_Missense_Mutation_p.P480T|CNTN5_ENST00000418526.2_Missense_Mutation_p.P406T NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 480 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGCTTCAGCTCCCACTTTTGC 0.368000 10 30 5.50884e-06 5.98583e-06 0.013537 1 0 RIMS2 9699 broad.mit.edu 37 8 104898351 104898351 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:104898351C>T ENST00000507740.1 + 2 1184 c.948C>T c.(946-948)cgC>cgT p.R316R RIMS2_ENST00000406091.3_Silent_p.R508R|RIMS2_ENST00000436393.2_Silent_p.R286R|RIMS2_ENST00000262231.10_Silent_p.R316R NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 539 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GTAAAATGCGCCAGATTTCGT 0.423000 HNSCC(12;0.0054) 13 24 0 0 0.020292 0 0 NRK 203447 broad.mit.edu 37 X 105132386 105132386 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:105132386C>A ENST00000428173.2 + 5 655 c.352C>A c.(352-354)Ccc>Acc p.P118T NRK_ENST00000243300.9_Missense_Mutation_p.P118T|NRK_ENST00000536164.1_Missense_Mutation_p.P118T Q7Z2Y5 NRK_HUMAN Nik related kinase 118 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CAAGCTGAGTCCCCCTGGTCA 0.398000 HNSCC(51;0.14) 5 2 5.9392e-07 6.64526e-07 0.021553 1 0 MEF2C 4208 broad.mit.edu 37 5 88119603 88119603 + Translation_Start_Site SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:88119603C>A ENST00000504921.2 - 2 675 c.3G>T c.(1-3)atG>atT p.M1I MEF2C_ENST00000539796.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000514028.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000340208.5_Start_Codon_SNP_p.M1I|MEF2C_ENST00000508569.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000437473.2_Start_Codon_SNP_p.M1I|MEF2C_ENST00000514015.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000510942.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000506554.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000424173.2_Start_Codon_SNP_p.M1I Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 1 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TTTTTCTCCCCATAGTCCCCG 0.343000 HNSCC(66;0.2) 134 135 1.23427e-62 1.91266e-62 0.014410 1 0 CDH8 1006 broad.mit.edu 37 16 61935119 61935119 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:61935119G>T ENST00000577390.1 - 3 1465 c.511C>A c.(511-513)Ccc>Acc p.P171T CDH8_ENST00000577730.1_Missense_Mutation_p.P171T|CDH8_ENST00000299345.6_Missense_Mutation_p.P171T|CDH8_ENST00000584337.1_Missense_Mutation_p.P171T NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 171 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCATGATAGGGTCCATTAAGA 0.398000 30 59 4.02929e-09 4.74034e-09 0.010818 1 0 MAGEC1 9947 broad.mit.edu 37 X 140993368 140993368 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:140993368G>T ENST00000285879.4 + 4 464 c.178G>T c.(178-180)Ggg>Tgg p.G60W MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 60 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCGTTCTGAGGGGGAGGACTC 0.602000 HNSCC(15;0.026) 42 31 4.67007e-22 6.65666e-22 0.008740 1 0 NME8 51314 broad.mit.edu 37 7 37903952 37903952 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:37903952G>A ENST00000199447.4 + 9 829 c.457G>A c.(457-459)Gaa>Aaa p.E153K NME8_ENST00000440017.1_Missense_Mutation_p.E153K|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 153 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity TTTTCCAGAGGAATTATACAG 0.284000 12 24 0 0 0.016723 0 0 MYO5C 55930 broad.mit.edu 37 15 52532055 52532055 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:52532055C>A ENST00000261839.7 - 21 2739 c.2578G>T c.(2578-2580)Gtg>Ttg p.V860L MYO5C_ENST00000443683.2_Intron NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 860 IQ 5. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TGTAGGATCACAGCCTTATGT 0.463000 15 23 1.05317e-09 1.2482e-09 0.020292 1 0 ZPBP 11055 broad.mit.edu 37 7 50129302 50129302 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:50129302C>G ENST00000046087.2 - 2 200 c.131G>C c.(130-132)gGa>gCa p.G44A ZPBP_ENST00000419417.1_Missense_Mutation_p.G44A NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 44 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) AACCAAGTGTCCAACTATCAA 0.318000 16 22 0 0 0.007413 0 0 LYZL4 131375 broad.mit.edu 37 3 42445602 42445602 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:42445602T>C ENST00000287748.3 - 4 582 c.307A>G c.(307-309)Aat>Gat p.N103D LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Missense_Mutation_p.N103D NM_144634.2 NP_653235.1 Q96KX0 LYZL4_HUMAN lysozyme-like 4 103 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|endometrium(1)|lung(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) TTCTCTAAATTAGGATTCAGT 0.388000 18 15 0 0 0.016522 0 0 CDK14 5218 broad.mit.edu 37 7 90419960 90419960 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:90419960C>T ENST00000406263.1 + 4 841 c.399C>T c.(397-399)atC>atT p.I133I CDK14_ENST00000380050.3_Silent_p.I179I|CDK14_ENST00000436577.2_Silent_p.I50I|CDK14_ENST00000265741.3_Silent_p.I161I O94921 CDK14_HUMAN cyclin-dependent kinase 14 179 cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 TCACAGCTATCAGGGAAGGTA 0.403000 15 32 0 0 0.020292 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118386463 118386463 + RNA SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:118386463T>A ENST00000537242.1 + 0 445 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) GTGCAAAACATTCGGGTTGTT 0.557000 8 11 0 0 0.004482 0 0 GTSE1 51512 broad.mit.edu 37 22 46722418 46722418 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:46722418C>T ENST00000454366.1 + 9 1803 c.1591C>T c.(1591-1593)Ccc>Tcc p.P531S NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 512 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) GTCAGCCTTGCCCACACCCGC 0.652000 21 37 0 0 0.016522 0 0 ETNPPL 64850 broad.mit.edu 37 4 109674060 109674060 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:109674060A>T ENST00000296486.3 - 6 763 c.609T>A c.(607-609)agT>agA p.S203R ETNPPL_ENST00000411864.2_Missense_Mutation_p.S197R|ETNPPL_ENST00000512646.1_Missense_Mutation_p.S145R|ETNPPL_ENST00000510706.1_Missense_Mutation_p.S163R NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase CCTTCCTTCCACTGTTATGAG 0.363000 33 86 0 0 0.013726 0 0 GAS7 8522 broad.mit.edu 37 17 10101583 10101583 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:10101583C>A ENST00000432992.2 - 1 285 c.125G>T c.(124-126)gGc>gTc p.G42V GAS7_ENST00000540214.1_5'UTR NM_201433.1 NP_958839.1 O60861 GAS7_HUMAN growth arrest-specific 7 42 SH3. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 CTCCTTCTCGCCTTCCCACCA 0.726000 T MLL AML* 17 31 8.34094e-07 9.28382e-07 0.008871 1 0 VIP 7432 broad.mit.edu 37 6 153077303 153077303 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:153077303C>A ENST00000367244.3 + 5 542 c.370C>A c.(370-372)Cgt>Agt p.R124S VIP_ENST00000367243.3_Missense_Mutation_p.R123S NM_003381.3 NP_003372.1 P01282 VIP_HUMAN vasoactive intestinal peptide 124 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) ACCAGTCAAACGTCACTCAGA 0.383000 67 43 1.93348e-29 2.90475e-29 0.014410 1 0 CAPZB 832 broad.mit.edu 37 1 19671737 19671737 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:19671737C>G ENST00000264203.3 - 8 1169 c.676G>C c.(676-678)Gat>Cat p.D226H CAPZB_ENST00000433834.1_Missense_Mutation_p.D229H|CAPZB_ENST00000375144.1_Missense_Mutation_p.D188H|CAPZB_ENST00000375142.1_Missense_Mutation_p.D200H|CAPZB_ENST00000401084.2_Missense_Mutation_p.D200H|CAPZB_ENST00000264202.6_Missense_Mutation_p.D200H P47756 CAPZB_HUMAN capping protein (actin filament) muscle Z-line, beta 200 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) ACAGTTTCATCCTTCTCCATC 0.557000 4 110 0 0 0.009096 0 0 LATS1 9113 broad.mit.edu 37 6 150005102 150005102 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:150005102G>A ENST00000543571.1 - 4 1670 c.1123C>T c.(1123-1125)Cca>Tca p.P375S LATS1_ENST00000253339.5_Missense_Mutation_p.P375S|LATS1_ENST00000392273.3_Missense_Mutation_p.P375S|LATS1_ENST00000542747.1_5'UTR NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 375 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AGAGGATATGGAGGTGGTGGC 0.478000 40 30 0 0 0.025465 0 0 FMN2 56776 broad.mit.edu 37 1 240255689 240255689 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:240255689C>T ENST00000319653.9 + 1 510 c.280C>T c.(280-282)Cgc>Tgc p.R94C NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 94 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CGGCGGCTCCCGCGAAGATGT 0.622000 7 14 0 0 0.003080 0 0 ZNF208 7757 broad.mit.edu 37 19 22154585 22154585 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:22154585G>T ENST00000397126.4 - 4 3399 c.3251C>A c.(3250-3252)cCc>cAc p.P1084H ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ACATTTGTAGGGTTCCTCTCC 0.428000 36 86 1.03484e-13 1.34068e-13 0.023175 1 0 TECRL 253017 broad.mit.edu 37 4 65180375 65180375 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:65180375G>A ENST00000381210.3 - 5 652 c.542C>T c.(541-543)cCa>cTa p.P181L TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.P181L NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 181 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CTGTACCACTGGGTGGCGTAA 0.438000 19 42 0 0 0.006122 0 0 HECTD4 283450 broad.mit.edu 37 12 112684766 112684766 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:112684766G>C ENST00000550722.1 - 29 4409 c.4014C>G c.(4012-4014)gtC>gtG p.V1338V HECTD4_ENST00000430131.2_Silent_p.V1062V|HECTD4_ENST00000377560.5_Silent_p.V1312V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CTGCGATGGTGACATGCAGCA 0.493000 22 24 0 0 0.014323 0 0 SPOCD1 90853 broad.mit.edu 37 1 32267266 32267266 + Splice_Site SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:32267266T>C ENST00000360482.2 - 3 1553 c.1425_splice c.e3+1 p.Y475_splice SPOCD1_ENST00000533231.1_Splice_Site_p.Y475_splice|SPOCD1_ENST00000373648.2_Splice_Site_p.Y475_splice|SPOCD1_ENST00000257100.3_5'UTR NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 475 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) AAAACCTACGTAGCACACAAG 0.507000 22 57 0 0 0.012319 0 0 DNAH7 56171 broad.mit.edu 37 2 196659142 196659142 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:196659142C>A ENST00000312428.6 - 57 10736 c.10636G>T c.(10636-10638)Ggt>Tgt p.G3546C DNAH7_ENST00000409063.1_Missense_Mutation_p.G29C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3546 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GCCCGTAAACCTTTTGGTGCT 0.438000 35 85 6.90743e-12 8.66814e-12 0.017118 1 0 FAM86C1 55199 broad.mit.edu 37 11 71507140 71507140 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:71507140C>A ENST00000359244.4 + 4 362 c.339C>A c.(337-339)agC>agA p.S113R FAM86C1_ENST00000426628.2_Missense_Mutation_p.S106R|FAM86C1_ENST00000528685.1_Missense_Mutation_p.S79R|FAM86C1_ENST00000346333.6_Missense_Mutation_p.S79R NM_018172.2 NP_060642.2 Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 113 lung(1) 1 GGAGCACCAGCGGGCTCCTCA 0.632000 46 119 7.88023e-25 1.15673e-24 0.014410 1 0 KLRB1 3820 broad.mit.edu 37 12 9751243 9751243 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:9751243G>T ENST00000229402.3 - 4 312 c.266C>A c.(265-267)cCg>cAg p.P89Q NM_002258.2 NP_002249.1 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, member 1 89 cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|large_intestine(6)|lung(4) 12 TAAGAGACCCGGTCTCTCTAA 0.373000 32 72 4.31634e-10 5.17314e-10 0.012213 1 0 PRPS1L1 221823 broad.mit.edu 37 7 18067285 18067285 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:18067285A>T ENST00000506618.2 - 1 201 c.121T>A c.(121-123)Tgc>Agc p.C41S NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 41 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) ATTTCCACGCAGGTCTCCTGG 0.512000 65 138 0 0 0.014410 0 0 PLCE1 51196 broad.mit.edu 37 10 95995801 95995801 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:95995801G>T ENST00000260766.3 + 7 2978 c.2344G>T c.(2344-2346)Gag>Tag p.E782* PLCE1_ENST00000371380.2_Nonsense_Mutation_p.E782*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.E474*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.E474* NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 782 Ras-GEF. 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) TCGAAGTCTGGAGACAGACGA 0.468000 15 16 1.3612e-06 1.50983e-06 0.024245 1 0 DPP6 1804 broad.mit.edu 37 7 154684051 154684051 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:154684051C>G ENST00000404039.1 + 26 2854 c.2267C>G c.(2266-2268)cCg>cGg p.P756R DPP6_ENST00000377770.3_Missense_Mutation_p.P820R|DPP6_ENST00000332007.3_Missense_Mutation_p.P758R|DPP6_ENST00000427557.1_Missense_Mutation_p.P713R NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 820 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CAGATTTACCCGGACGAAAGC 0.517000 30 48 0 0 0.007291 0 0 ALOX12-AS1 100506713 broad.mit.edu 37 17 6913397 6913397 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:6913397T>C ENST00000574377.1 - 2 195 c.20A>G c.(19-21)gAc>gGc p.D7G AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|ALOX12_ENST00000251535.6_Silent_p.C588C|RP11-589P10.7_ENST00000572547.1_RNA GGCAGGCCTGTCTTCAAATGG 0.562000 13 34 0 0 0.016723 0 0 HBG2 3048 broad.mit.edu 37 11 5275578 5275578 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:5275578C>T ENST00000380259.2 - 7 1499 c.259G>A c.(259-261)Gcc>Acc p.A87T HBG2_ENST00000336906.4_Missense_Mutation_p.A87T|HBG2_ENST00000380252.1_Missense_Mutation_p.A77T hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCAGCTGGGCAAAGGTGCCC 0.517000 25 197 0 0 0.009535 0 0 GDPD4 220032 broad.mit.edu 37 11 76940195 76940195 + Splice_Site SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:76940195C>A ENST00000315938.4 - 14 1722 c.1472_splice c.e14+1 p.W491_splice GDPD4_ENST00000376217.2_Splice_Site_p.W491_splice NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 491 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 atataCTTACCAGTGAAAACA 0.303000 8 21 5.18039e-06 5.67714e-06 0.003080 1 0 TSIX 9383 broad.mit.edu 37 X 73041720 73041720 + RNA SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:73041720G>A ENST00000604411.1 + 0 29681 XIST_ENST00000429829.1_lincRNA NR_003255.2 AGCCCTTCTTGAGCAGATTTG 0.299000 11 6 0 0 0.008291 0 0 OR8D2 283160 broad.mit.edu 37 11 124189698 124189698 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:124189698G>T ENST00000357438.2 - 1 486 c.396C>A c.(394-396)taC>taA p.Y132* NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TGACAATATTGTAAAGCAGTG 0.443000 11 32 2.80697e-09 3.3084e-09 0.010729 1 0 TTN 7273 broad.mit.edu 37 2 179481873 179481873 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:179481873C>A ENST00000589042.1 - 255 48073 c.47849G>T c.(47848-47850)gGt>gTt p.G15950V TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7077V|TTN_ENST00000359218.5_Missense_Mutation_p.G7010V|TTN_ENST00000591111.1_Missense_Mutation_p.G14309V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G6885V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13382V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14309 Fibronectin type-III 16. 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) GGTGAGAGGACCAAGAATTTC 0.368000 7 18 1.12685e-05 1.21822e-05 0.004482 1 0 SI 6476 broad.mit.edu 37 3 164785240 164785240 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:164785240G>C ENST00000264382.3 - 6 585 c.523C>G c.(523-525)Cag>Gag p.Q175E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 175 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTTACATACTGATGAGGAACT 0.338000 HNSCC(35;0.089) 26 147 0 0 0.024334 0 0 MATN1 4146 broad.mit.edu 37 1 31187158 31187158 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:31187158G>A ENST00000373765.4 - 7 1412 c.1377C>T c.(1375-1377)gcC>gcT p.A459A NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 459 protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) GGGACTCGCAGGCACACGGGT 0.627000 4 13 0 0 0.009096 0 0 CNRIP1 25927 broad.mit.edu 37 2 68521024 68521024 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:68521024C>A ENST00000263655.3 - 3 1070 c.465G>T c.(463-465)ctG>ctT p.L155L CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Intron NM_015463.2 NP_056278.1 Q96F85 CNRP1_HUMAN cannabinoid receptor interacting protein 1 155 protein binding kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1) 9 TCACCCACATCAGACTGCGTG 0.473000 25 40 2.79863e-10 3.36678e-10 0.024334 1 0 TADA2A 6871 broad.mit.edu 37 17 35818669 35818669 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:35818669G>T ENST00000394395.2 + 9 821 c.648G>T c.(646-648)aaG>aaT p.K216N TADA2A_ENST00000417170.1_Missense_Mutation_p.K216N|TADA2A_ENST00000586023.1_Missense_Mutation_p.K216N|TADA2A_ENST00000225396.6_Missense_Mutation_p.K216N|TADA2A_ENST00000591992.1_3'UTR NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 216 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 CCAGGTTAAAGGAGAGACAAA 0.323000 13 34 2.32078e-09 2.74041e-09 0.024245 1 0 OPCML 4978 broad.mit.edu 37 11 132307171 132307171 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:132307171G>C ENST00000331898.7 - 4 1187 c.609C>G c.(607-609)agC>agG p.S203R OPCML_ENST00000541867.1_Missense_Mutation_p.S203R|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.S162R|OPCML_ENST00000524381.1_Missense_Mutation_p.S196R NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 203 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CGTTCAACGCGCTGCATTCGT 0.542000 26 42 0 0 0.018920 0 0 LRRC7 57554 broad.mit.edu 37 1 70300502 70300502 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:70300502G>T ENST00000310961.5 + 7 859 c.441G>T c.(439-441)caG>caT p.Q147H LRRC7_ENST00000370958.1_Missense_Mutation_p.Q180H|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q142H|LRRC7_ENST00000415775.2_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 142 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ACCTGACCCAGCTCTACCTGA 0.358000 23 47 6.21321e-17 8.44258e-17 0.016522 1 0 CSMD1 64478 broad.mit.edu 37 8 2820916 2820916 + Splice_Site SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:2820916G>T ENST00000602557.1 - 61 9840 c.9283_splice c.e61-1 p.A3095_splice CSMD1_ENST00000537824.1_Splice_Site_p.A3094_splice|CSMD1_ENST00000602723.1_Splice_Site_p.A2918_splice|CSMD1_ENST00000542608.1_Splice_Site_p.A2917_splice|CSMD1_ENST00000520002.1_Splice_Site_p.A3095_splice|CSMD1_ENST00000400186.3_Splice_Site_p.A2918_splice Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3095 Sushi 24. 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) GACACAGCACGGCTATTTCCA 0.498000 51 101 6.56871e-35 1.00574e-34 0.014410 1 0 CRYBB1 1414 broad.mit.edu 37 22 26995525 26995525 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:26995525G>T ENST00000215939.2 - 6 818 c.688C>A c.(688-690)Cgt>Agt p.R230S NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 230 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 CGCAGGCGACGCAGGGACTGC 0.627000 21 45 8.10497e-08 9.21347e-08 0.010504 1 0 OR5F1 338674 broad.mit.edu 37 11 55761731 55761731 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:55761731G>A ENST00000278409.1 - 1 370 c.371C>T c.(370-372)gCg>gTg p.A124V NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A124E(1) endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) ACATATGGCCGCATACCTGTC 0.507000 3 32 0 0 0.006214 0 0 KCNQ3 3786 broad.mit.edu 37 8 133175730 133175730 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:133175730A>T ENST00000388996.4 - 9 1667 c.1247T>A c.(1246-1248)cTg>cAg p.L416Q KCNQ3_ENST00000519445.1_Missense_Mutation_p.L416Q|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L296Q NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 416 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGCTGCCTCCAGCTGTTCTTT 0.443000 22 48 0 0 0.016522 0 0 REG3G 130120 broad.mit.edu 37 2 79254295 79254295 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:79254295C>A ENST00000272324.5 + 4 515 c.331C>A c.(331-333)Cag>Aag p.Q111K REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.Q111K NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 111 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGACCCCACACAGGTGCGAGT 0.557000 33 67 3.76114e-14 4.9025e-14 0.019004 1 0 OR5AR1 219493 broad.mit.edu 37 11 56431878 56431878 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:56431878C>A ENST00000302969.2 + 1 741 c.717C>A c.(715-717)tcC>tcA p.S239S NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 AGGCTTTCTCCACCTGCGGGT 0.483000 24 90 2.21704e-12 2.80971e-12 0.016522 1 0 LMNB1 4001 broad.mit.edu 37 5 126154638 126154638 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:126154638C>G ENST00000261366.5 + 6 1325 c.964C>G c.(964-966)Caa>Gaa p.Q322E LMNB1_ENST00000395354.1_Missense_Mutation_p.Q322E|LMNB1_ENST00000460265.1_3'UTR NM_001198557.1|NM_005573.3 NP_001185486.1|NP_005564.1 P20700 LMNB1_HUMAN lamin B1 322 Coil 2.|Rod. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) GGAAAGGATTCAAGAATTAGA 0.388000 69 41 0 0 0.014410 0 0 INSC 387755 broad.mit.edu 37 11 15197552 15197552 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:15197552G>C ENST00000379554.3 + 3 509 c.463G>C c.(463-465)Gtg>Ctg p.V155L INSC_ENST00000424273.1_Missense_Mutation_p.V108L|INSC_ENST00000530161.1_Missense_Mutation_p.V108L|INSC_ENST00000525218.1_Missense_Mutation_p.V108L|INSC_ENST00000379556.3_Missense_Mutation_p.V108L|INSC_ENST00000528567.1_Missense_Mutation_p.V108L NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 155 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 CAGCATGAGCGTGCGTCTGAC 0.627000 8 10 0 0 0.003080 0 0 GPR101 83550 broad.mit.edu 37 X 136112905 136112905 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:136112905C>T ENST00000298110.1 - 1 928 c.929G>A c.(928-930)aGc>aAc p.S310N NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 310 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) GGCCACCGTGCTGCTCTCTCT 0.602000 72 51 0 0 0.014410 0 0 TRIP12 9320 broad.mit.edu 37 2 230652349 230652349 + Nonsense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:230652349G>A ENST00000283943.5 - 32 4820 c.4642C>T c.(4642-4644)Caa>Taa p.Q1548* TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Q1278*|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Q1596* NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1548 K-box. protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AAAAGCATTTGCCGGGTATCA 0.353000 14 31 0 0 0.020292 0 0 C20orf27 54976 broad.mit.edu 37 20 3735131 3735131 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:3735131C>G ENST00000379772.3 - 5 1147 c.337G>C c.(337-339)Gag>Cag p.E113Q C20orf27_ENST00000217195.8_Missense_Mutation_p.E138Q NM_001258429.1 NP_001245358.1 Q9GZN8 CT027_HUMAN chromosome 20 open reading frame 27 113 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 7 AGGACGCCCTCTTTGTGCGCC 0.632000 24 53 0 0 0.027356 0 0 ACSBG1 23205 broad.mit.edu 37 15 78474423 78474423 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:78474423T>C ENST00000258873.4 - 8 1164 c.959A>G c.(958-960)gAg>gGg p.E320G ACSBG1_ENST00000541759.1_Missense_Mutation_p.E78G|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E78G NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 320 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 GACTACCACCTCCTGCTGGAC 0.627000 21 32 0 0 0.008871 0 0 DENND2A 27147 broad.mit.edu 37 7 140301270 140301270 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:140301270A>C ENST00000275884.6 - 2 1345 c.928T>G c.(928-930)Tct>Gct p.S310A DENND2A_ENST00000492720.1_Missense_Mutation_p.S310A|DENND2A_ENST00000537639.1_Missense_Mutation_p.S310A|DENND2A_ENST00000496613.1_Missense_Mutation_p.S310A Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 310 p.S310A(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) ggtgggggagaggagggcaga 0.597000 14 37 0 0 0.006122 0 0 BAI3 577 broad.mit.edu 37 6 69666697 69666697 + Nonsense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:69666697C>A ENST00000370598.1 + 8 2342 c.1521C>A c.(1519-1521)tgC>tgA p.C507* NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 507 TSP type-1 4. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AGCAGCGATGCCCTGGTGAGA 0.423000 39 30 1.49673e-21 2.12397e-21 0.025465 1 0 EN2 2020 broad.mit.edu 37 7 155255140 155255140 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:155255140G>T ENST00000297375.4 + 2 1009 c.760G>T c.(760-762)Gag>Tag p.E254* NM_001427.3 NP_001418.2 P19622 HME2_HUMAN engrailed homeobox 2 254 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTTACCGCCGAGCAGCTGCA 0.607000 26 85 5.45024e-15 7.22185e-15 0.018920 1 0 CYP2C8 1558 broad.mit.edu 37 10 96796938 96796938 + Missense_Mutation SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:96796938T>G ENST00000371270.3 - 9 1514 c.1420A>C c.(1420-1422)Aaa>Caa p.K474Q CYP2C8_ENST00000535898.1_Missense_Mutation_p.K372Q NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 474 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) ACAATCCCTTTGGTAACTGCA 0.428000 13 24 0 0 0.024245 0 0 RET 5979 broad.mit.edu 37 10 43608405 43608405 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:43608405T>A ENST00000355710.3 + 9 1985 c.1753T>A c.(1753-1755)Tgc>Agc p.C585S RET_ENST00000340058.5_Missense_Mutation_p.C585S NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 585 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CCCTCAGGACTGCCTCCGTAA 0.572000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 13 27 0 0 0.013537 0 0 BRSK1 84446 broad.mit.edu 37 19 55817783 55817783 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:55817783G>A ENST00000309383.1 + 17 2331 c.2054G>A c.(2053-2055)gGt>gAt p.G685D BRSK1_ENST00000590333.1_Missense_Mutation_p.G701D|BRSK1_ENST00000326848.7_Missense_Mutation_p.G380D NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 685 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) AGCGGAGGTGGTGGCATCTAC 0.642000 9 33 0 0 0.008291 0 0 SLC39A10 57181 broad.mit.edu 37 2 196581405 196581405 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:196581405G>A ENST00000409086.3 + 7 2016 c.1741G>A c.(1741-1743)Gaa>Aaa p.E581K SLC39A10_ENST00000541054.1_Missense_Mutation_p.E131K|SLC39A10_ENST00000359634.5_Missense_Mutation_p.E581K NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 581 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) TAATGAAACTGAACTGACAGA 0.348000 20 33 0 0 0.008871 0 0 PLXNA3 55558 broad.mit.edu 37 X 153693211 153693211 + Splice_Site SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:153693211G>A ENST00000369682.3 + 10 2218 c.2043_splice c.e10+1 p.E681_splice NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 681 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACAGCCCTGAGGTGAGGCGGG 0.662000 3 2 0 0 0.004672 0 0 TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:7577568C>A ENST00000420246.2 - 7 845 c.713G>T c.(712-714)tGt>tTt p.C238F TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 238 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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) GGAACTGTTACACATGTAGTT 0.572000 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) 20 62 1.2644e-06 1.40489e-06 0.010504 1 0 PABPC5 140886 broad.mit.edu 37 X 90690743 90690743 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:90690743G>T ENST00000312600.3 + 2 381 c.167G>T c.(166-168)cGc>cTc p.R56L PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 56 RRM 1. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 CCGGTGACCCGCAGCCCCCTG 0.532000 9 5 5.68852e-11 7.00126e-11 0.004482 1 0 CLCA1 1179 broad.mit.edu 37 1 86961284 86961284 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:86961284G>A ENST00000234701.3 + 13 2390 c.2039G>A c.(2038-2040)gGa>gAa p.G680E CLCA1_ENST00000394711.1_Missense_Mutation_p.G680E A8K7I4 CLCA1_HUMAN chloride channel accessory 1 680 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity p.G680E(1) NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GCTCTGGGAGGAGTTAACGCA 0.463000 22 40 0 0 0.012319 0 0 NRAP 4892 broad.mit.edu 37 10 115350515 115350515 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:115350515A>G ENST00000369358.4 - 40 5046 c.4802T>C c.(4801-4803)tTt>tCt p.F1601S NRAP_ENST00000360478.3_Missense_Mutation_p.F1558S|NRAP_ENST00000359988.3_Missense_Mutation_p.F1593S|NRAP_ENST00000369360.3_Missense_Mutation_p.F1566S Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1593 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ACTCTTGGCAAAGTCCTTCTT 0.577000 26 63 0 0 0.021523 0 0 CEP164 22897 broad.mit.edu 37 11 117253621 117253621 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:117253621G>C ENST00000278935.3 + 14 1834 c.1687G>C c.(1687-1689)Gtg>Ctg p.V563L CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 563 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) TGAGGAGAAGGTGGCGGTCAG 0.637000 17 20 0 0 0.004990 0 0 OR11L1 391189 broad.mit.edu 37 1 248004808 248004808 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:248004808G>T ENST00000355784.2 - 1 446 c.391C>A c.(391-393)Cgc>Agc p.R131S NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R131S(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AAGGGGTAGCGGAGTGGGCTG 0.587000 12 29 5.50884e-06 5.98583e-06 0.013537 1 0 IL1R1 3554 broad.mit.edu 37 2 102788275 102788275 + Missense_Mutation SNP T T A rs35308674 byFrequency TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:102788275T>A ENST00000410023.1 + 8 1054 c.736T>A c.(736-738)Ttg>Atg p.L246M IL1R1_ENST00000409929.1_Missense_Mutation_p.L246M|IL1R1_ENST00000409329.1_Missense_Mutation_p.L246M|IL1R1_ENST00000233946.3_Missense_Mutation_p.L246M|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_Missense_Mutation_p.L246M|IL1R1_ENST00000409288.1_Missense_Mutation_p.L246M P14778 IL1R1_HUMAN interleukin 1 receptor, type I 246 Ig-like C2-type 3. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) CCAGATACAATTGATCTGTAA 0.338000 10 33 0 0 0.006214 0 0 DOK7 285489 broad.mit.edu 37 4 3494900 3494900 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:3494900A>T ENST00000340083.5 + 7 1252 c.1187A>T c.(1186-1188)cAg>cTg p.Q396L DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Missense_Mutation_p.Q396L NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 396 positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GTCGAGTACCAGGTGCCCACC 0.692000 6 10 0 0 0.001984 0 0 BTBD16 118663 broad.mit.edu 37 10 124036332 124036332 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:124036332C>A ENST00000368994.2 + 3 299 c.48C>A c.(46-48)gtC>gtA p.V16V BTBD16_ENST00000260723.4_Silent_p.V15V Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 15 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) AACGCCGGGTCACTGGCTCAA 0.478000 22 92 1.96292e-10 2.36586e-10 0.010504 1 0 CWC22 57703 broad.mit.edu 37 2 180835757 180835757 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:180835757C>G ENST00000410053.3 - 9 1150 c.851G>C c.(850-852)aGa>aCa p.R284T CWC22_ENST00000295749.6_Missense_Mutation_p.R284T NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 284 MIF4G. catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 ATCTGTTGGTCTTTCCAGGAG 0.353000 16 22 0 0 0.024245 0 0 UGT2B10 7365 broad.mit.edu 37 4 69693223 69693223 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:69693223A>G ENST00000265403.7 + 5 1291 c.1264A>G c.(1264-1266)Aca>Gca p.T422A UGT2B10_ENST00000458688.2_Missense_Mutation_p.T338A NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 422 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 AATGTCGAGTACAGACCTGCT 0.388000 53 91 0 0 0.014410 0 0 POU5F2 134187 broad.mit.edu 37 5 93076445 93076445 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:93076445C>T ENST00000510627.4 - 1 898 c.825G>A c.(823-825)cgG>cgA p.R275R POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 275 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) CCACAATCTCCCGTGGGGAAG 0.577000 6 16 0 0 0.021553 0 0 PIK3R6 146850 broad.mit.edu 37 17 8707437 8707437 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:8707437T>C ENST00000311434.9 - 20 2266 c.2027A>G c.(2026-2028)cAg>cGg p.Q676R PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 677 platelet activation cytosol GCTCTGGATCTGGATATTGTT 0.587000 12 20 0 0 0.016723 0 0 ASXL3 80816 broad.mit.edu 37 18 31224903 31224903 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:31224903C>T ENST00000269197.5 + 3 183 c.183C>T c.(181-183)aaC>aaT p.N61N NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 61 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TTCACACTAACACTCGAATAG 0.393000 3 8 0 0 0.009096 0 0 MIR1269A 100302177 broad.mit.edu 37 4 67142589 67142589 + RNA SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:67142589C>G ENST00000408636.1 + 0 48 NR_031673.1 cagtccaagtctgaccacctg 0.537000 27 47 0 0 0.024334 0 0 CREBBP 1387 broad.mit.edu 37 16 3781465 3781465 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:3781465C>A ENST00000262367.5 - 30 5709 c.4900G>T c.(4900-4902)Gtg>Ttg p.V1634L CREBBP_ENST00000382070.3_Missense_Mutation_p.V1596L NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1634 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AGGTGGATCACGAAGAAGACC 0.642000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 6 1 0.00198382 0.00205112 0.001984 1 0 MS4A4A 51338 broad.mit.edu 37 11 60073587 60073587 + Missense_Mutation SNP G G T rs148827848 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:60073587G>T ENST00000355131.3 + 7 727 c.504G>T c.(502-504)atG>atT p.M168I MS4A4A_ENST00000395016.3_Missense_Mutation_p.M168I|MS4A4A_ENST00000337908.4_Missense_Mutation_p.M187I|MS4A4A_ENST00000532114.1_Missense_Mutation_p.M134I NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 187 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 TGGATGGCATGGTGCTCCTCC 0.463000 32 78 1.22384e-17 1.67362e-17 0.013726 1 0 GGT5 2687 broad.mit.edu 37 22 24622662 24622662 + Silent SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:24622662C>G ENST00000327365.4 - 7 1391 c.975G>C c.(973-975)acG>acC p.T325T GGT5_ENST00000398292.3_Silent_p.T325T|GGT5_ENST00000263112.7_Silent_p.T293T|GGT5_ENST00000418439.2_Silent_p.T248T NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 325 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity p.T325T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CAAACTTGAGCGTCTCTACAA 0.612000 21 61 0 0 0.010504 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780517 106780517 + RNA SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:106780517G>T ENST00000390612.2 - 0 418 TGTGTTTCTCGCACAGTAATA 0.607000 55 136 3.79397e-19 5.25571e-19 0.014410 1 0 ZNF676 163223 broad.mit.edu 37 19 22363718 22363718 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:22363718G>A ENST00000397121.2 - 3 1118 c.801C>T c.(799-801)acC>acT p.T267T NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 267 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) GTGTATTAAGGGTTGAGACGC 0.388000 23 60 0 0 0.016522 0 0 FBN2 2201 broad.mit.edu 37 5 127702106 127702106 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:127702106A>T ENST00000508053.1 - 23 3240 c.2266T>A c.(2266-2268)Tgt>Agt p.C756S FBN2_ENST00000508989.1_Missense_Mutation_p.C723S|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.C756S P35556 FBN2_HUMAN fibrillin 2 756 TB 3. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CCACTACTACAAAGGCCGTGG 0.323000 19 16 0 0 0.014323 0 0 DPPA4 55211 broad.mit.edu 37 3 109047837 109047837 + Nonsense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:109047837T>A ENST00000335658.6 - 6 832 c.778A>T c.(778-780)Aag>Tag p.K260* NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 260 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CCTTCTTGCTTTTCTGGAACC 0.517000 22 19 0 0 0.016522 0 0 WARS2 10352 broad.mit.edu 37 1 119575893 119575893 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:119575893C>A ENST00000235521.4 - 6 750 c.724G>T c.(724-726)Gac>Tac p.D242Y WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.D148Y NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 242 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) TCTGGGCTGTCTGTTATTCGG 0.517000 50 91 4.01344e-20 5.59608e-20 0.014410 1 0 ZNF660 285349 broad.mit.edu 37 3 44636619 44636619 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:44636619C>T ENST00000322734.2 + 3 1267 c.934C>T c.(934-936)Cgg>Tgg p.R312W RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) GAAAGCCTATCGGTATAGTTC 0.408000 14 29 0 0 0.020292 0 0 GNAZ 2781 broad.mit.edu 37 22 23465617 23465617 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:23465617G>A ENST00000248996.4 + 3 1733 c.1067G>A c.(1066-1068)tGa>tAa p.*356* RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 0 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) GGCCTTTGCTGAGGAGCTGGG 0.587000 6 4 0 0 0.021553 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140762824 140762824 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140762824G>T ENST00000518325.1 + 1 358 c.358G>T c.(358-360)Gac>Tac p.D120Y PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTACCCTATAGACGTGGAAAT 0.418000 60 37 7.50695e-29 1.12516e-28 0.014410 1 0 RNF150 57484 broad.mit.edu 37 4 142053645 142053645 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:142053645G>T ENST00000306799.3 - 1 971 c.318C>A c.(316-318)acC>acA p.T106T RNF150_ENST00000515673.1_Silent_p.T106T|RNF150_ENST00000507500.1_Silent_p.T106T|RNF150_ENST00000420921.2_Intron NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 106 PA. integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) CGGCGAACTTGGTGTTGGGGT 0.672000 8 10 5.18039e-06 5.67714e-06 0.003080 1 0 CNGB1 1258 broad.mit.edu 37 16 57931410 57931410 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:57931410T>A ENST00000564448.1 - 31 3175 c.3115A>T c.(3115-3117)Aac>Tac p.N1039Y CNGB1_ENST00000251102.8_Missense_Mutation_p.N1045Y Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 1045 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 GCCACCACGTTGGCCGTGCGC 0.557000 14 33 0 0 0.028581 0 0 C6 729 broad.mit.edu 37 5 41160245 41160245 + Splice_Site SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:41160245G>T ENST00000263413.3 - 11 1947 c.1684_splice c.e11+1 p.S561_splice C6_ENST00000337836.5_Splice_Site_p.S561_splice NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 561 complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GATACTTACTGGATTTATAAT 0.408000 50 94 3.68337e-26 5.4317e-26 0.014410 1 0 JADE1 79960 broad.mit.edu 37 4 129770159 129770159 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:129770159C>T ENST00000226319.6 + 5 601 c.321C>T c.(319-321)ctC>ctT p.L107L PHF17_ENST00000452328.2_Intron|PHF17_ENST00000511647.1_Silent_p.L107L|PHF17_ENST00000413543.2_Silent_p.L107L|PHF17_ENST00000512960.1_Silent_p.L107L NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 107 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 AGAAATCCCTCATGTTCATCA 0.517000 28 64 0 0 0.010818 0 0 ACKR2 1238 broad.mit.edu 37 3 42906247 42906247 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:42906247C>G ENST00000422265.1 + 3 428 c.253C>G c.(253-255)Ctg>Gtg p.L85V ACKR2_ENST00000273145.2_Missense_Mutation_p.L85V|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.L85V|KRBOX1_ENST00000426937.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 TGAGATCTATCTGCTGAATCT 0.537000 53 51 0 0 0.014410 0 0 MCM3AP 8888 broad.mit.edu 37 21 47704494 47704494 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:47704494C>G ENST00000397708.1 - 2 961 c.707G>C c.(706-708)aGa>aCa p.R236T MCM3AP_ENST00000291688.1_Missense_Mutation_p.R236T O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 236 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CTTAGGTCCTCTCTTCTCTTC 0.393000 22 67 0 0 0.010504 0 0 NT5DC3 51559 broad.mit.edu 37 12 104187036 104187036 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:104187036C>T ENST00000392876.3 - 9 965 c.925G>A c.(925-927)Ggg>Agg p.G309R NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 309 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 TAACTCATCCCTTTGTCCCTA 0.418000 63 167 0 0 0.014410 0 0 COL6A6 131873 broad.mit.edu 37 3 130293227 130293227 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:130293227G>A ENST00000358511.6 + 7 3436 c.3405G>A c.(3403-3405)gtG>gtA p.V1135V COL6A6_ENST00000453409.2_Silent_p.V1135V NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1135 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TCTACTCCGTGGGCATTGGGG 0.552000 45 28 0 0 0.009718 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351869 89351869 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:89351869C>A ENST00000301030.4 - 9 1541 c.1081G>T c.(1081-1083)Gtg>Ttg p.V361L ANKRD11_ENST00000378330.2_Missense_Mutation_p.V361L NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 361 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTGTCGTCCACCGGAGGAACC 0.468000 60 125 1.92745e-42 2.97245e-42 0.014410 1 0 TC2N 123036 broad.mit.edu 37 14 92266697 92266697 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:92266697G>A ENST00000435962.2 - 5 812 c.489C>T c.(487-489)aaC>aaT p.N163N TC2N_ENST00000340892.5_Silent_p.N163N|TC2N_ENST00000556018.1_Silent_p.N163N|TC2N_ENST00000360594.5_Silent_p.N163N NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 163 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CGGGAAGTTTGTTCGTCCTTA 0.328000 10 28 0 0 0.008291 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99439551 99439551 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:99439551G>T ENST00000397899.2 - 7 1516 c.1185C>A c.(1183-1185)ccC>ccA p.P395P NM_207362.2 NP_997245.2 KIAA1211-like CGACGTCTTCGGGAGCACAGA 0.731000 8 11 0.00448238 0.00461952 0.004482 1 0 GPR63 81491 broad.mit.edu 37 6 97246760 97246760 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:97246760A>G ENST00000229955.3 - 2 1193 c.848T>C c.(847-849)aTa>aCa p.I283T GPR63_ENST00000417980.1_Missense_Mutation_p.I283T NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 283 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) GCTGAGGCATATACCTTCAGG 0.473000 47 24 0 0 0.014410 0 0 FEZF2 55079 broad.mit.edu 37 3 62358002 62358002 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:62358002G>C ENST00000283268.3 - 2 836 c.542C>G c.(541-543)cCg>cGg p.P181R FEZF2_ENST00000486811.1_Missense_Mutation_p.P181R|FEZF2_ENST00000475839.1_Missense_Mutation_p.P181R NM_018008.3 NP_060478.3 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 181 transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1) 20 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) CTCAGACGGCGGGTACGCGGT 0.672000 5 2 0 0 0.014758 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907946 164907946 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:164907946T>A ENST00000475390.1 - 2 1116 c.673A>T c.(673-675)Atg>Ttg p.M225L SLITRK3_ENST00000241274.3_Missense_Mutation_p.M225L O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 225 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TGGAGCTCCATCAGGCTTCTG 0.438000 HNSCC(40;0.11) 60 80 0 0 0.014410 0 0 SNHG14 104472715 broad.mit.edu 37 15 25432739 25432739 + RNA SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:25432739G>T ENST00000424208.1 + 0 761 SNORD115-10_ENST00000365073.1_RNA NR_003305.1 TAAAAATCATGCTCAATAGGA 0.488000 111 232 2.09607e-39 3.22472e-39 0.014410 1 0 FAM214B 80256 broad.mit.edu 37 9 35107838 35107838 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:35107838C>T ENST00000378561.1 - 2 3489 c.434G>A c.(433-435)tGc>tAc p.C145Y FAM214B_ENST00000378557.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000322813.5_Missense_Mutation_p.C145Y|FAM214B_ENST00000378554.2_Missense_Mutation_p.C145Y|FAM214B_ENST00000605244.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000488109.2_Missense_Mutation_p.C145Y|FAM214B_ENST00000603301.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000378566.1_Intron Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 145 nucleus TGATGGGGGGCAGGGGGGACT 0.627000 31 57 0 0 0.012213 0 0 DNAH2 146754 broad.mit.edu 37 17 7734089 7734089 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:7734089G>T ENST00000572933.1 + 79 13619 c.12159G>T c.(12157-12159)tgG>tgT p.W4053C DNAH2_ENST00000389173.2_Missense_Mutation_p.W4053C Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 4053 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CAGATGACTGGGACCGGCGCC 0.547000 18 43 3.41278e-10 4.0979e-10 0.004990 1 0 LRPAP1 4043 broad.mit.edu 37 4 3516631 3516631 + Nonsense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:3516631T>A ENST00000500728.2 - 7 1005 c.859A>T c.(859-861)Aaa>Taa p.K287* LRPAP1_ENST00000296325.5_5'UTR NM_002337.3 NP_002328.1 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein associated protein 1 287 LDL receptor binding (Potential). negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) TTCTCGATTTTGGCTTCGAAG 0.592000 43 92 0 0 0.014410 0 0 IRX1 79192 broad.mit.edu 37 5 3599662 3599662 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:3599662G>C ENST00000302006.3 + 2 652 c.600G>C c.(598-600)caG>caC p.Q200H CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 200 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GCAAGGACCAGGAAGATGGAG 0.627000 35 56 0 0 0.015359 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197203 26197203 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:26197203C>A ENST00000377831.5 - 2 729 c.276G>T c.(274-276)gcG>gcT p.A92A HIST1H3D_ENST00000356476.2_Silent_p.A92A NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d 92 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) CCTCCTGCAGCGCCATCACCG 0.587000 31 99 2.08457e-15 2.79105e-15 0.010818 1 0 MUC2 4583 broad.mit.edu 37 11 1078313 1078313 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:1078313C>A ENST00000441003.2 + 5 627 c.600C>A c.(598-600)aaC>aaA p.N200K MUC2_ENST00000359061.5_Missense_Mutation_p.N200K NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 200 VWFD 1. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGAAGATCAACCAGCCCGATG 0.662000 27 69 1.7881e-09 2.11531e-09 0.008361 1 0 IFIT5 24138 broad.mit.edu 37 10 91177811 91177811 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:91177811G>A ENST00000371795.4 + 2 1068 c.855G>A c.(853-855)ctG>ctA p.L285L IFIT5_ENST00000416601.1_Silent_p.L237L NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 285 binding endometrium(1)|large_intestine(4)|lung(4) 9 CTTCTTTCCTGCATCACCAGA 0.423000 33 35 0 0 0.015359 0 0 MYLK 4638 broad.mit.edu 37 3 123333078 123333078 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:123333078G>A ENST00000360772.3 - 34 5844 c.5466C>T c.(5464-5466)tgC>tgT p.C1822C MYLK_ENST00000418370.2_Silent_p.C113C|MYLK_ENST00000360304.3_Silent_p.C1873C|MYLK_ENST00000583087.1_Silent_p.C113C|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000578202.1_Silent_p.C112C|MYLK_ENST00000359169.1_Silent_p.C1822C|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000475616.1_Silent_p.C1873C|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000354792.5_Silent_p.C673C|MYLK_ENST00000346322.5_Silent_p.C1804C Q15746 MYLK_HUMAN myosin light chain kinase 1873 Ig-like C2-type 9. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CGTCATCCCCGCAAACATCAC 0.498000 4 156 0 0 0.009096 0 0 CAMTA1 23261 broad.mit.edu 37 1 7723703 7723703 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:7723703C>A ENST00000303635.7 + 9 1303 c.1096C>A c.(1096-1098)Ctc>Atc p.L366I CAMTA1_ENST00000439411.2_Missense_Mutation_p.L366I NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CAGCAGCGGGCTCAACAGCGA 0.662000 T WWTR1 epitheliod hemangioendothelioma 33 60 1.04352e-10 1.26487e-10 0.017118 1 0 NUAK1 9891 broad.mit.edu 37 12 106461453 106461453 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:106461453G>T ENST00000261402.2 - 7 2492 c.1113C>A c.(1111-1113)tcC>tcA p.S371S NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 371 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 TCTCTTTCTTGGATTTCTTCA 0.547000 32 68 1.45844e-13 1.88185e-13 0.013726 1 0 FAM118B 79607 broad.mit.edu 37 11 126110725 126110725 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:126110725A>C ENST00000533050.1 + 4 618 c.125A>C c.(124-126)gAa>gCa p.E42A FAM118B_ENST00000525728.1_3'UTR|FAM118B_ENST00000360194.4_Missense_Mutation_p.E42A NM_024556.3 NP_078832.1 Q9BPY3 F118B_HUMAN family with sequence similarity 118, member B 42 breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1) 13 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) AAGCCTCGAGAACTTGTGCTA 0.443000 64 148 0 0 0.014410 0 0 TRO 7216 broad.mit.edu 37 X 54957428 54957428 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:54957428G>T ENST00000173898.7 + 12 4383 c.4271G>T c.(4270-4272)gGt>gTt p.G1424V TRO_ENST00000375041.2_Missense_Mutation_p.G1027V|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G955V|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1424 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GCCAGTCTTGGTGCCTGTGGC 0.567000 9 11 1.11149e-13 1.43708e-13 0.008291 1 0 CNDP1 84735 broad.mit.edu 37 18 72247448 72247448 + Missense_Mutation SNP C C G rs144587048 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:72247448C>G ENST00000582365.1 + 9 1187 c.1121C>G c.(1120-1122)cCg>cGg p.P374R CNDP1_ENST00000358821.3_Missense_Mutation_p.P417R Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 417 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) GGACTACACCCGTGGATTGCA 0.443000 12 36 0 0 0.010729 0 0 ZNF148 7707 broad.mit.edu 37 3 125032301 125032301 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:125032301C>T ENST00000360647.4 - 4 669 c.184G>A c.(184-186)Gaa>Aaa p.E62K ZNF148_ENST00000492394.1_Missense_Mutation_p.E62K|ZNF148_ENST00000484491.1_Missense_Mutation_p.E62K|ZNF148_ENST00000485866.1_Missense_Mutation_p.E62K|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 62 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TGTAACACTTCATCTGCAGCA 0.443000 96 52 0 0 0.014410 0 0 FREM2 341640 broad.mit.edu 37 13 39425200 39425200 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr13:39425200G>C ENST00000280481.7 + 10 6913 c.6697G>C c.(6697-6699)Ggt>Cgt p.G2233R NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2233 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGCTGCAGTTGGTGAACAAAA 0.438000 16 24 0 0 0.028581 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94740690 94740690 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:94740690G>T ENST00000289495.5 + 2 1731 c.1515G>T c.(1513-1515)gtG>gtT p.V505V PPP1R9A_ENST00000433881.1_Silent_p.V505V|PPP1R9A_ENST00000433360.1_Silent_p.V505V|PPP1R9A_ENST00000456331.2_Silent_p.V505V|PPP1R9A_ENST00000340694.4_Silent_p.V505V|PPP1R9A_ENST00000424654.1_Silent_p.V505V NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 505 PDZ. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TTTTCCCAGTGGAGCTAGAGA 0.373000 HNSCC(28;0.073) 23 46 2.32416e-17 3.17156e-17 0.014323 1 0 PDE1C 5137 broad.mit.edu 37 7 32209472 32209472 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:32209472C>A ENST00000396193.1 - 3 826 c.233G>T c.(232-234)cGa>cTa p.R78L NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 0 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CTCTGGGGGTCGAGGGTCATG 0.507000 29 64 1.04594e-18 1.44579e-18 0.025465 1 0 EVI5 7813 broad.mit.edu 37 1 93167773 93167773 + Splice_Site SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:93167773C>A ENST00000370331.1 - 5 706 c.e5-1 EVI5_ENST00000543509.1_Splice_Site|EVI5_ENST00000540033.1_Splice_Site NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) AAGAGTAAGCCTAAAAAGTAA 0.303000 15 21 1.05317e-09 1.2482e-09 0.020292 1 0 GPR158 57512 broad.mit.edu 37 10 25885717 25885717 + Splice_Site SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:25885717G>A ENST00000376351.3 + 10 2503 c.2145_splice c.e10+1 p.R715_splice GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 715 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAGGACATTCGGGTAATGCCA 0.488000 87 63 0 0 0.014410 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751082 19751082 + Nonsense_Mutation SNP G G T rs148928584 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr13:19751082G>T ENST00000400113.3 - 4 1145 c.1041C>A c.(1039-1041)tgC>tgA p.C347* NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 347 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) ATCCAGTTGGGCACCAATCTA 0.527000 13 19 1.15088e-07 1.30135e-07 0.028581 1 0 CYP46A1 10858 broad.mit.edu 37 14 100172989 100172989 + Nonsense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:100172989T>A ENST00000261835.3 + 6 553 c.449T>A c.(448-450)tTg>tAg p.L150* CYP46A1_ENST00000423126.2_Nonsense_Mutation_p.L53*|CYP46A1_ENST00000554176.1_5'UTR NM_006668.1 NP_006659.1 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 150 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) TCCAGCTCCTTGGTTAGCTTA 0.547000 22 44 0 0 0.021523 0 0 KIT 3815 broad.mit.edu 37 4 55592133 55592133 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:55592133A>T ENST00000288135.5 + 9 1554 c.1457A>T c.(1456-1458)aAt>aTt p.N486I NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 486 Ig-like C2-type 5. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.D479fs*2(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TTCAAGCACAATGGCACGGTT 0.403000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 24 50 0 0 0.016522 0 0 ANO5 203859 broad.mit.edu 37 11 22271793 22271793 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:22271793G>A ENST00000324559.8 + 10 1206 c.889G>A c.(889-891)Gga>Aga p.G297R NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 297 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAATTATTATGGAGAAAAAAT 0.308000 10 20 0 0 0.016723 0 0 CDH11 1009 broad.mit.edu 37 16 64984725 64984725 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:64984725G>A ENST00000394156.3 - 12 2292 c.1839C>T c.(1837-1839)gcC>gcT p.A613A CDH11_ENST00000268603.4_Silent_p.A613A|CDH11_ENST00000566827.1_Silent_p.A487A P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 613 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) TGCTCAGGCCGGCGTTCAGAA 0.637000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 13 25 0 0 0.016723 0 0 GC 2638 broad.mit.edu 37 4 72622457 72622457 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:72622457C>A ENST00000273951.8 - 8 1349 c.1006G>T c.(1006-1008)Gat>Tat p.D336Y GC_ENST00000513476.1_Missense_Mutation_p.D336Y|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.D355Y NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 336 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TTTCCTGGATCACACACATCT 0.453000 8 33 5.18039e-06 5.67714e-06 0.003080 1 0 ABCA13 154664 broad.mit.edu 37 7 48318403 48318403 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:48318403A>T ENST00000435803.1 + 18 7636 c.7612A>T c.(7612-7614)Aca>Tca p.T2538S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2538 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GAAGATGTCCACAGTTTTTAA 0.393000 55 134 0 0 0.014410 0 0 ZNF324 25799 broad.mit.edu 37 19 58983146 58983146 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:58983146G>C ENST00000536459.2 + 4 1996 c.1287G>C c.(1285-1287)caG>caC p.Q429H ZNF324_ENST00000535298.1_Missense_Mutation_p.Q206H|ZNF324_ENST00000196482.3_Missense_Mutation_p.Q429H O75467 Z324A_HUMAN zinc finger protein 324 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CCTGCCCACAGTGCGGCCGCG 0.677000 14 31 0 0 0.020292 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45731307 45731307 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:45731307G>A ENST00000413988.1 - 4 258 c.218C>T c.(217-219)gCa>gTa p.A73V EXOC3L2_ENST00000252482.3_Missense_Mutation_p.A73V NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 73 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) GATGCGGGGTGCTCGCTCTGT 0.637000 8 26 0 0 0.003080 0 0 SLC17A1 6568 broad.mit.edu 37 6 25830751 25830751 + Splice_Site SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:25830751C>T ENST00000244527.4 - 2 150 c.e2+1 SLC17A1_ENST00000476801.1_Splice_Site|SLC17A1_ENST00000427328.1_Splice_Site|SLC17A1_ENST00000468082.1_Splice_Site NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 TAAAGTGCTACCTTTTTTGGG 0.398000 66 73 0 0 0.014410 0 0 RNF214 257160 broad.mit.edu 37 11 117153235 117153235 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:117153235G>A ENST00000530849.1 + 11 1373 c.1363G>A c.(1363-1365)Gtg>Atg p.V455M RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000300650.4_Missense_Mutation_p.V610M|RNF214_ENST00000531452.1_Missense_Mutation_p.V610M|RNF214_ENST00000531287.1_Missense_Mutation_p.V455M Q8ND24 RN214_HUMAN ring finger protein 214 610 Pro-rich. zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) ACATGAGCGGGTGGCAGCAAG 0.522000 14 18 0 0 0.020292 0 0 MAP3K13 9175 broad.mit.edu 37 3 185161246 185161246 + Nonsense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:185161246C>T ENST00000265026.3 + 4 1007 c.673C>T c.(673-675)Cag>Tag p.Q225* MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.Q81*|MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.Q81*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.Q18*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.Q225* NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 225 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TGTTTGTACTCAGGCCCCATG 0.368000 76 35 0 0 0.014410 0 0 BRWD3 254065 broad.mit.edu 37 X 79932626 79932626 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:79932626T>A ENST00000373275.4 - 41 5107 c.4891A>T c.(4891-4893)Aca>Tca p.T1631S NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1631 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TCTTGATCTGTTCTGGAAGTT 0.383000 47 36 0 0 0.011902 0 0 RUSC2 9853 broad.mit.edu 37 9 35556330 35556330 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:35556330G>A ENST00000455600.1 + 5 3437 c.2868G>A c.(2866-2868)ctG>ctA p.L956L NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 956 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CGTTACCACTGACCTGCCCTG 0.542000 27 48 0 0 0.007291 0 0 LRRC75A-AS1 125144 broad.mit.edu 37 17 16342902 16342902 + RNA SNP A A G rs11540320 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:16342902A>G ENST00000475953.1 + 0 370 C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA NR_027667.1 CAGTCGCTGAAACCTCTACAA 0.478000 51 119 0 0 0.014410 0 0 SORL1 6653 broad.mit.edu 37 11 121475024 121475024 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:121475024G>A ENST00000260197.7 + 33 4771 c.4642G>A c.(4642-4644)Gcc>Acc p.A1548T SORL1_ENST00000525532.1_Missense_Mutation_p.A492T|SORL1_ENST00000532694.1_Missense_Mutation_p.A394T|SORL1_ENST00000534286.1_Missense_Mutation_p.A458T|SORL1_ENST00000527934.1_Missense_Mutation_p.A163T NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1548 LDL-receptor class A 11. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CGATGAAAAGGCCTGCAGTGG 0.662000 20 37 0 0 0.007413 0 0 PHOX2B 8929 broad.mit.edu 37 4 41749478 41749478 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:41749478G>C ENST00000226382.2 - 2 676 c.317C>G c.(316-318)aCc>aGc p.T106S NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 106 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 CTGGGCACTGGTGAAAGTGGT 0.572000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 23 59 0 0 0.014323 0 0 IL16 3603 broad.mit.edu 37 15 81517813 81517813 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:81517813C>T ENST00000394660.2 + 2 433 c.73C>T c.(73-75)Ctc>Ttc p.L25F IL16_ENST00000302987.4_Missense_Mutation_p.L25F NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 25 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 GTCCCTGATGCTCTGTAATGC 0.498000 19 50 0 0 0.008871 0 0 PRDM1 639 broad.mit.edu 37 6 106547326 106547326 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:106547326A>T ENST00000369096.4 + 4 797 c.563A>T c.(562-564)aAg>aTg p.K188M PRDM1_ENST00000369091.2_Missense_Mutation_p.K152M|PRDM1_ENST00000369089.3_Missense_Mutation_p.K54M NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 188 SET. negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TACACCATTAAGCCCATCCCT 0.502000 """D, N, Mis, F, S""" DLBCL 27 30 0 0 0.021523 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835170 27835170 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:27835170C>T ENST00000331442.3 - 1 189 c.138G>A c.(136-138)ctG>ctA p.L46L NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 46 H15. nucleosome assembly nucleosome|nucleus DNA binding p.L46L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CCTTGGTGATCAGCTCTGAGA 0.602000 25 87 0 0 0.018920 0 0 POTEG 404785 broad.mit.edu 37 14 19553819 19553819 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:19553819G>A ENST00000409832.3 + 1 455 c.403G>A c.(403-405)Gtc>Atc p.V135I NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 135 p.V135I(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 GAGGTACCACGTCCGTCGAGA 0.582000 11 285 0 0 0.018920 0 0 ABCA6 23460 broad.mit.edu 37 17 67136824 67136824 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:67136824G>T ENST00000284425.2 - 2 195 c.21C>A c.(19-21)agC>agA p.S7R ABCA6_ENST00000590645.1_Missense_Mutation_p.S7R NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 7 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GCTGATACACGCTTTTCTGTT 0.333000 23 52 7.87624e-14 1.02247e-13 0.016522 1 0 DNAH8 1769 broad.mit.edu 37 6 38905924 38905924 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:38905924C>A ENST00000359357.3 + 76 11341 c.11087C>A c.(11086-11088)aCa>aAa p.T3696K DNAH8_ENST00000449981.2_Missense_Mutation_p.T3913K|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.T3660K dynein, axonemal, heavy chain 8 p.T3696I(2) 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 TTCCTCATCACAGAGATGAGC 0.522000 52 25 1.21353e-23 1.75319e-23 0.014410 1 0 PCLO 27445 broad.mit.edu 37 7 82538271 82538271 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:82538271C>A ENST00000423517.2 - 8 13696 c.13359G>T c.(13357-13359)ttG>ttT p.L4453F PCLO_ENST00000333891.8_Missense_Mutation_p.L4453F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4384 PDZ. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.L4453F(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCCATTTTCCAAACGAGACT 0.443000 22 58 2.37509e-13 3.05233e-13 0.010504 1 0 NEB 4703 broad.mit.edu 37 2 152563504 152563504 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:152563504T>C ENST00000397345.3 - 13 1245 c.1043A>G c.(1042-1044)tAc>tGc p.Y348C NEB_ENST00000603639.1_Missense_Mutation_p.Y348C|NEB_ENST00000409198.1_Missense_Mutation_p.Y348C|NEB_ENST00000427231.2_Missense_Mutation_p.Y348C|NEB_ENST00000172853.10_Missense_Mutation_p.Y348C|NEB_ENST00000604864.1_Missense_Mutation_p.Y348C NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 348 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) GTCTTCTTTGTATTTTACCTG 0.373000 5 11 0 0 0.014758 0 0 IRX1 79192 broad.mit.edu 37 5 3599663 3599663 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:3599663G>T ENST00000302006.3 + 2 653 c.601G>T c.(601-603)Gaa>Taa p.E201* CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 201 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CAAGGACCAGGAAGATGGAGC 0.622000 34 56 1.22384e-17 1.67362e-17 0.013726 1 0 ZNF256 10172 broad.mit.edu 37 19 58453833 58453833 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:58453833G>T ENST00000282308.3 - 3 539 c.343C>A c.(343-345)Cag>Aag p.Q115K ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 115 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) TACAGTTTCTGACCATGGTGT 0.473000 42 103 3.66854e-30 5.53742e-30 0.007835 1 0 OR5M3 219482 broad.mit.edu 37 11 56237369 56237369 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:56237369C>A ENST00000312240.2 - 1 645 c.605G>T c.(604-606)gGc>gTc p.G202V NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) GAAGTTAATGCCGGCAAGTAT 0.418000 35 80 1.90571e-15 2.55692e-15 0.019004 1 0 CRHR2 1395 broad.mit.edu 37 7 30706845 30706845 + Splice_Site SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:30706845T>C ENST00000471646.1 - 3 731 c.315_splice c.e3+1 p.K105_splice CRHR2_ENST00000341843.4_Splice_Site_p.K91_splice|CRHR2_ENST00000348438.4_Splice_Site_p.K132_splice|CRHR2_ENST00000506074.2_Splice_Site_p.K105_splice NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 105 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCCACTCACCTTGTCATCCAA 0.517000 15 47 0 0 0.020292 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843555 22843555 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:22843555C>G ENST00000360412.2 - 4 944 c.169G>C c.(169-171)Gtt>Ctt p.V57L ZNF280B_ENST00000406426.1_Missense_Mutation_p.V57L NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) ATGTTTGAAACGACTGGTTTT 0.408000 30 56 0 0 0.006320 0 0 IGHG1 3500 broad.mit.edu 37 14 106208282 106208282 + RNA SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:106208282G>A ENST00000390548.2 - 0 617 CTTTGTTGGAGACCTTGCACT 0.622000 56 180 0 0 0.014410 0 0 GC 2638 broad.mit.edu 37 4 72629169 72629169 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:72629169G>C ENST00000273951.8 - 6 1000 c.657C>G c.(655-657)gtC>gtG p.V219V GC_ENST00000513476.1_Silent_p.V219V|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.V238V NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 219 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) ATTGTGAGCAGACTCTATTTG 0.368000 16 39 0 0 0.006122 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48848069 48848069 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:48848069A>G ENST00000394754.1 + 4 2327 c.2213A>G c.(2212-2214)cAa>cGa p.Q738R STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.Q738R|GTF2A1L_ENST00000430487.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.Q738R|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.Q738R|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.Q738R|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.Q34R NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 738 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATAGAGGAACAAGTTTTAAAA 0.333000 18 31 0 0 0.012319 0 0 LPHN2 23266 broad.mit.edu 37 1 82416749 82416749 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:82416749A>G ENST00000370728.1 + 10 2185 c.1540A>G c.(1540-1542)Aag>Gag p.K514E LPHN2_ENST00000370730.1_Missense_Mutation_p.K514E|LPHN2_ENST00000335786.5_Missense_Mutation_p.K514E|LPHN2_ENST00000370713.1_Missense_Mutation_p.K514E|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.K514E|LPHN2_ENST00000370721.1_Missense_Mutation_p.K452E|LPHN2_ENST00000370723.1_Missense_Mutation_p.K514E|LPHN2_ENST00000319517.6_Missense_Mutation_p.K514E|LPHN2_ENST00000271029.4_Missense_Mutation_p.K514E|LPHN2_ENST00000370725.1_Missense_Mutation_p.K514E|LPHN2_ENST00000370727.1_Missense_Mutation_p.K514E|LPHN2_ENST00000370715.1_Missense_Mutation_p.K514E|LPHN2_ENST00000394879.1_Missense_Mutation_p.K514E|LPHN2_ENST00000359929.3_Missense_Mutation_p.K514E O95490 LPHN2_HUMAN latrophilin 2 514 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATGGAACCCTAAGGGCCCCGA 0.438000 29 67 0 0 0.012213 0 0 MAPT 4137 broad.mit.edu 37 17 44068882 44068882 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:44068882G>C ENST00000344290.5 + 9 1759 c.1437G>C c.(1435-1437)caG>caC p.Q479H MAPT_ENST00000334239.8_Missense_Mutation_p.Q104H|MAPT_ENST00000576518.1_Missense_Mutation_p.Q93H|MAPT_ENST00000340799.5_Missense_Mutation_p.Q133H|MAPT_ENST00000431008.3_Missense_Mutation_p.Q162H|MAPT_ENST00000574436.1_Missense_Mutation_p.Q162H|MAPT_ENST00000262410.5_Missense_Mutation_p.Q479H|MAPT_ENST00000571987.1_Missense_Mutation_p.Q479H|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.Q162H|MAPT_ENST00000446361.3_Missense_Mutation_p.Q104H|MAPT_ENST00000420682.2_Missense_Mutation_p.Q133H|MAPT_ENST00000415613.2_Missense_Mutation_p.Q479H|MAPT_ENST00000351559.5_Missense_Mutation_p.Q162H|MAPT_ENST00000347967.5_Missense_Mutation_p.Q68H NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 479 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) CTCCAGGCCAGAAGGGCCAGG 0.542000 37 94 0 0 0.025465 0 0 ART4 420 broad.mit.edu 37 12 14993877 14993877 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:14993877G>T ENST00000228936.4 - 2 736 c.355C>A c.(355-357)Cac>Aac p.H119N C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 119 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 GCCACAGCGTGTGTGGTAGTC 0.438000 44 87 4.18559e-23 6.01972e-23 0.014410 1 0 THSD7B 80731 broad.mit.edu 37 2 138320906 138320906 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:138320906C>A ENST00000409968.1 + 16 3432 c.3254C>A c.(3253-3255)aCa>aAa p.T1085K THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T1088K|THSD7B_ENST00000413152.2_Missense_Mutation_p.T1057K thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GGAGGAGGAACACAATCTAGG 0.413000 14 30 2.31682e-05 2.4754e-05 0.024245 1 0 FREM2 341640 broad.mit.edu 37 13 39343823 39343823 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr13:39343823G>T ENST00000280481.7 + 4 5735 c.5519G>T c.(5518-5520)cGg>cTg p.R1840L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1840 Calx-beta 1. R -> W (in dbSNP:rs9603422). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGGCGAGTGCGGATCCTGAGT 0.537000 19 21 2.39187e-15 3.18745e-15 0.008871 1 0 GNS 2799 broad.mit.edu 37 12 65130829 65130829 + Silent SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:65130829T>C ENST00000258145.3 - 9 1223 c.1053A>G c.(1051-1053)ccA>ccG p.P351P GNS_ENST00000543646.1_Silent_p.P383P|GNS_ENST00000542058.1_Silent_p.P331P|GNS_ENST00000418919.2_Silent_p.P295P NM_002076.3 NP_002067.1 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase 351 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4) 15 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) GAACCAACAGTGGAACTTTGA 0.453000 16 51 0 0 0.028581 0 0 NR2F2 7026 broad.mit.edu 37 15 96875646 96875646 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:96875646G>C ENST00000394166.3 + 1 1701 c.312G>C c.(310-312)aaG>aaC p.K104N NR2F2_ENST00000421109.2_Intron NM_021005.3 NP_066285.1 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 104 lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) GCTTCTTCAAGCGCAGCGTGC 0.612000 8 28 0 0 0.008291 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188125 140188125 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140188125C>T ENST00000530339.1 + 1 1353 c.1353C>T c.(1351-1353)aaC>aaT p.N451N PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.N451N|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.N451N NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACGACAACGCTCCGGCGT 0.647000 62 28 0 0 0.014410 0 0 ARL4D 379 broad.mit.edu 37 17 41477216 41477216 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:41477216A>T ENST00000320033.4 + 2 323 c.116A>T c.(115-117)tAc>tTc p.Y39F NM_001661.3 NP_001652.2 P49703 ARL4D_HUMAN ADP-ribosylation factor-like 4D 39 protein secretion|small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|GTPase activity|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.155) TCCCTCCTTTACCGCCTCAAG 0.592000 20 40 0 0 0.010504 0 0 LEPREL2 10536 broad.mit.edu 37 12 6943184 6943184 + RNA SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:6943184G>T ENST00000251761.8 + 0 1462 LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 CACCCCAGCCGAGTGTGGGGT 0.587000 28 55 1.17739e-12 1.50706e-12 0.027356 1 0 GABRA5 2558 broad.mit.edu 37 15 27160007 27160007 + Missense_Mutation SNP C C G rs140643363 by1000genomes TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:27160007C>G ENST00000335625.5 + 7 1443 c.555C>G c.(553-555)caC>caG p.H185Q GABRA5_ENST00000355395.5_Missense_Mutation_p.H185Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.H185Q NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 185 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGGATGCGCACGCTTGCCCTC 0.433000 17 18 0 0 0.028581 0 0 WDR70 55100 broad.mit.edu 37 5 37727134 37727134 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:37727134C>T ENST00000265107.4 + 17 2020 c.1864C>T c.(1864-1866)Cca>Tca p.P622S NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 622 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGGGTTTCTCCAGCATATTC 0.383000 68 88 0 0 0.014410 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156629432 156629432 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:156629432A>C ENST00000296518.7 + 5 571 c.362A>C c.(361-363)cAa>cCa p.Q121P GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q121P Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 121 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ATTGCAGAGCAAGCAGTTGCA 0.274000 29 56 0 0 0.012213 0 0 ABCA13 154664 broad.mit.edu 37 7 48285513 48285513 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:48285513C>A ENST00000435803.1 + 13 1569 c.1545C>A c.(1543-1545)gtC>gtA p.V515V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 515 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGAAGGAGGTCTTTTTGCCGC 0.448000 15 37 6.72482e-11 8.24499e-11 0.024245 1 0 KCNJ1 3758 broad.mit.edu 37 11 128709440 128709440 + Silent SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:128709440T>A ENST00000392665.2 - 2 843 c.699A>T c.(697-699)gtA>gtT p.V233V KCNJ1_ENST00000324036.3_Silent_p.V233V|KCNJ1_ENST00000392666.1_Silent_p.V233V|KCNJ1_ENST00000440599.2_Silent_p.V233V|KCNJ1_ENST00000392664.2_Silent_p.V252V NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 252 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CAGCGTCAACTACAAAGTTGA 0.428000 40 92 0 0 0.027894 0 0 TRBV2 28620 broad.mit.edu 37 7 142001214 142001214 + RNA SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:142001214G>C ENST00000455382.2 + 0 380 GGTCCACAAAGCTGGAGGACT 0.463000 10 22 0 0 0.008291 0 0 ZNF90 7643 broad.mit.edu 37 19 20229413 20229413 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:20229413C>A ENST00000418063.2 + 4 1162 c.1050C>A c.(1048-1050)ttC>ttA p.F350L ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 350 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 GCAAAGCCTTCAGGCGCTCCT 0.423000 14 23 6.81908e-15 9.01696e-15 0.020292 1 0 ADSSL1 122622 broad.mit.edu 37 14 105213312 105213312 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:105213312C>T ENST00000332972.5 + 13 1634 c.1475C>T c.(1474-1476)tCa>tTa p.S492L ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000330877.2_Missense_Mutation_p.S449L|ADSSL1_ENST00000555674.1_Missense_Mutation_p.S66L|ADSSL1_ENST00000556623.1_Missense_Mutation_p.S55L NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 449 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) GTTGGCAAGTCAAGAGAGTCG 0.468000 13 57 0 0 0.028581 0 0 EXOC4 60412 broad.mit.edu 37 7 133502223 133502223 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:133502223A>G ENST00000253861.4 + 11 1689 c.1660A>G c.(1660-1662)Aca>Gca p.T554A EXOC4_ENST00000545148.1_Missense_Mutation_p.T164A|EXOC4_ENST00000539845.1_Missense_Mutation_p.T453A|EXOC4_ENST00000460346.1_3'UTR NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 554 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) AGTCACTAAAACATCTGACCC 0.443000 18 23 0 0 0.007413 0 0 ASTN2 23245 broad.mit.edu 37 9 119202971 119202971 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:119202971C>A ENST00000313400.4 - 22 3799 c.3699G>T c.(3697-3699)ctG>ctT p.L1233L ASTN2_ENST00000361209.2_Silent_p.L1182L|ASTN2_ENST00000341734.4_Silent_p.L285L|ASTN2_ENST00000373996.3_Silent_p.L1229L|ASTN2_ENST00000361477.3_Silent_p.L285L|ASTN2_ENST00000288520.5_Silent_p.L334L O75129 ASTN2_HUMAN astrotactin 2 1233 integral to membrane p.L1182L(1)|p.L285L(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GGACTCGGAACAGCATCGAGG 0.498000 28 75 3.73808e-20 5.23495e-20 0.027356 1 0 SNHG14 104472715 broad.mit.edu 37 15 25463849 25463849 + RNA SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:25463849C>A ENST00000424208.1 + 0 2994 SNHG14_ENST00000453082.2_RNA NR_003305.1 GAGGCCCAGCCTGGGGGAGAA 0.532000 75 159 1.43675e-24 2.10417e-24 0.014410 1 0 NPSR1 387129 broad.mit.edu 37 7 34889223 34889223 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:34889223G>A ENST00000360581.1 + 9 1200 c.1072G>A c.(1072-1074)Gag>Aag p.E358K NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.E292K|NPSR1_ENST00000381539.3_Silent_p.*391*|NPSR1_ENST00000531252.1_Intron NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 358 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) GGAGAGAACTGAGAGGCATGA 0.488000 40 80 0 0 0.007835 0 0 ARAP2 116984 broad.mit.edu 37 4 36075423 36075423 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:36075423G>C ENST00000303965.4 - 32 5120 c.4631C>G c.(4630-4632)cCa>cGa p.P1544R NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1544 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CTTTCCAGCTGGTGGCCATAT 0.413000 36 67 0 0 0.017118 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20170203 20170203 + RNA SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:20170203C>A ENST00000338912.5 - 0 68 CAGACTGCATCAGCTGTACCT 0.552000 24 57 2.44723e-14 3.20948e-14 0.024334 1 0 GNAI3 2773 broad.mit.edu 37 1 110129355 110129355 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:110129355G>A ENST00000369851.4 + 7 835 c.725G>A c.(724-726)cGa>cAa p.R242Q NM_006496.3 NP_006487.1 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 242 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) TTTCAGAACCGAATGCATGAA 0.318000 16 26 0 0 0.004990 0 0 DYSF 8291 broad.mit.edu 37 2 71839829 71839829 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:71839829G>T ENST00000258104.3 + 39 4503 c.4226G>T c.(4225-4227)cGc>cTc p.R1409L DYSF_ENST00000410041.1_Missense_Mutation_p.R1427L|DYSF_ENST00000409762.1_Missense_Mutation_p.R1426L|DYSF_ENST00000409651.1_Missense_Mutation_p.R1441L|DYSF_ENST00000394120.2_Missense_Mutation_p.R1410L|DYSF_ENST00000409744.1_Missense_Mutation_p.R1396L|DYSF_ENST00000429174.2_Missense_Mutation_p.R1409L|DYSF_ENST00000413539.2_Missense_Mutation_p.R1440L|DYSF_ENST00000410020.3_Missense_Mutation_p.R1427L|DYSF_ENST00000409366.1_Missense_Mutation_p.R1410L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Missense_Mutation_p.R1426L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1409 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ATCGATAACCGCCAGTTTGGC 0.637000 23 52 2.41591e-17 3.28975e-17 0.024334 1 0 FZD7 8324 broad.mit.edu 37 2 202900651 202900651 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:202900651G>A ENST00000286201.1 + 1 1342 c.1281G>A c.(1279-1281)gcG>gcA p.A427A NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 427 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 TCGTGCTGGCGCCTCTGTTCG 0.617000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 78 0 0 0.009096 0 0 HAS1 3036 broad.mit.edu 37 19 52222623 52222623 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:52222623C>A ENST00000540069.2 - 2 595 c.535G>T c.(535-537)Gcc>Tcc p.A179S HAS1_ENST00000222115.1_Missense_Mutation_p.A180S|HAS1_ENST00000594621.1_Missense_Mutation_p.A34S|HAS1_ENST00000601714.1_Missense_Mutation_p.A187S Q92839 HAS1_HUMAN hyaluronan synthase 1 180 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TAGGCTccggcgcccaccgcg 0.726000 3 8 0.004672 0.00479949 0.004672 1 0 IGSF9 57549 broad.mit.edu 37 1 159898079 159898079 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:159898079G>A ENST00000368094.1 - 19 3296 c.3099C>T c.(3097-3099)ttC>ttT p.F1033F IGSF9_ENST00000361509.3_Silent_p.F1017F|IGSF9_ENST00000493195.1_5'UTR NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 1033 cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGGCCGCAGGAACGAAGCGC 0.697000 13 17 0 0 0.016723 0 0 AMER1 139285 broad.mit.edu 37 X 63410293 63410293 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:63410293C>A ENST00000330258.3 - 2 3146 c.2874G>T c.(2872-2874)tgG>tgT p.W958C AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CCCAAGCAGGCCAATCATAGG 0.577000 15 6 4.7546e-09 5.58339e-09 0.028581 1 0 XDH 7498 broad.mit.edu 37 2 31598392 31598392 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:31598392C>A ENST00000379416.3 - 15 1504 c.1456G>T c.(1456-1458)Gtg>Ttg p.V486L NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 486 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity p.V486M(1)|p.V486L(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCTGCACACACGTCCTGCAGC 0.637000 18 26 1.67942e-08 1.94012e-08 0.006122 1 0 IQCH 64799 broad.mit.edu 37 15 67757467 67757467 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:67757467G>T ENST00000335894.4 + 17 2574 c.2508G>T c.(2506-2508)gtG>gtT p.V836V IQCH_ENST00000358767.3_Silent_p.V572V|IQCH_ENST00000546225.1_Silent_p.V493V|IQCH_ENST00000360277.4_Silent_p.V497V|IQCH-AS1_ENST00000559298.1_lincRNA NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 836 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TTAATCAGGTGTGGGCAACCG 0.517000 21 43 9.57634e-11 1.1674e-10 0.018920 1 0 PLXNA3 55558 broad.mit.edu 37 X 153689091 153689091 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:153689091G>A ENST00000369682.3 + 2 743 c.568G>A c.(568-570)Gaa>Aaa p.E190K NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 190 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.E190K(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CATCAGTGATGAAGACAGCGC 0.597000 29 18 0 0 0.006320 0 0 FAM73A 374986 broad.mit.edu 37 1 78332059 78332059 + Nonsense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:78332059A>T ENST00000370791.3 + 14 1578 c.1546A>T c.(1546-1548)Aaa>Taa p.K516* FAM73A_ENST00000443751.2_Nonsense_Mutation_p.K478* NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 516 integral to membrane p.R517fs*19(1) breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) GCTGAAACAGAAAAGACAACA 0.353000 28 69 0 0 0.009535 0 0 SYNE1 23345 broad.mit.edu 37 6 152631122 152631122 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:152631122G>A ENST00000367255.5 - 90 17651 c.17050C>T c.(17050-17052)Ccg>Tcg p.P5684S SYNE1_ENST00000265368.4_Missense_Mutation_p.P5684S|SYNE1_ENST00000341594.5_Missense_Mutation_p.P5296S|SYNE1_ENST00000356820.4_Missense_Mutation_p.P208S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P5613S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P5613S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5684 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) TGCACCTTCGGCTTCAGTGAC 0.453000 HNSCC(10;0.0054) 30 19 0 0 0.012213 0 0 TAAR9 134860 broad.mit.edu 37 6 132859539 132859539 + RNA SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:132859539C>T ENST00000434551.1 + 0 111 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) TCCTCTACGCCGTCCTTGGTT 0.478000 33 17 0 0 0.012213 0 0 MSC 9242 broad.mit.edu 37 8 72756070 72756070 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:72756070C>T ENST00000325509.4 - 1 633 c.344G>A c.(343-345)cGt>cAt p.R115H RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin 115 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) GGCACGCTCACGGGCGTTGGC 0.692000 OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 17 0 0 0.021553 0 0 WDR60 55112 broad.mit.edu 37 7 158718989 158718989 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:158718989A>T ENST00000407559.3 + 18 2527 c.2369A>T c.(2368-2370)gAa>gTa p.E790V NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 790 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TCTACTCAAGAAGGTACGTGA 0.388000 6 12 0 0 0.021553 0 0 CEP170 9859 broad.mit.edu 37 1 243289810 243289810 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:243289810T>C ENST00000366542.1 - 20 4747 c.4696A>G c.(4696-4698)Ata>Gta p.I1566V CEP170_ENST00000490813.1_Missense_Mutation_p.I275V|CEP170_ENST00000366544.1_Missense_Mutation_p.I1468V|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000366543.1_Missense_Mutation_p.I1442V|CEP170_ENST00000481987.1_Missense_Mutation_p.I302V NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 1566 Targeting to centrosomes.|Targeting to microtubules. centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TTGAAATGTATACTGAAATCA 0.438000 9 16 0 0 0.008291 0 0 PRKD1 5587 broad.mit.edu 37 14 30194823 30194823 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:30194823G>A ENST00000331968.5 - 2 551 c.322C>T c.(322-324)Cct>Tct p.P108S PRKD1_ENST00000415220.2_Missense_Mutation_p.P108S NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 108 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TCAGAGGTAGGGTCATGGCGA 0.413000 16 45 0 0 0.004990 0 0 XIRP2 129446 broad.mit.edu 37 2 168099600 168099600 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:168099600G>T ENST00000409195.1 + 9 1787 c.1698G>T c.(1696-1698)tgG>tgT p.W566C XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.W344C|XIRP2_ENST00000295237.9_Missense_Mutation_p.W566C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 391 actin cytoskeleton organization cell junction actin binding p.W566*(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACTTGGAATGGGATGAAATTC 0.403000 13 25 1.49906e-05 1.60973e-05 0.020292 1 0 DSCAM 1826 broad.mit.edu 37 21 41505903 41505903 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:41505903T>A ENST00000400454.1 - 19 3917 c.3440A>T c.(3439-3441)cAg>cTg p.Q1147L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1147 Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAGTGAAGGCTGTGTGGTGGT 0.532000 18 38 0 0 0.008871 0 0 NUTM1 256646 broad.mit.edu 37 15 34640812 34640812 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:34640812A>T ENST00000537011.1 + 3 1125 c.743A>T c.(742-744)tAc>tTc p.Y248F NUTM1_ENST00000438749.3_Missense_Mutation_p.Y238F|NUTM1_ENST00000333756.4_Missense_Mutation_p.Y220F NUT midline carcinoma, family member 1 TGGCAGCGTTACAAAGCCTTG 0.512000 33 33 0 0 0.012213 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411241 105411241 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:105411241A>C ENST00000333244.5 - 7 10666 c.10547T>G c.(10546-10548)cTc>cGc p.L3516R AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3516 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGTGGCCTTGAGGTCCCCCTG 0.667000 49 125 0 0 0.014410 0 0 FMN2 56776 broad.mit.edu 37 1 240601394 240601394 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:240601394A>T ENST00000319653.9 + 16 5174 c.4944A>T c.(4942-4944)aaA>aaT p.K1648N FMN2_ENST00000545751.1_Missense_Mutation_p.K244N NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1648 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCTTCATGAAACCAAAACTTG 0.383000 38 76 0 0 0.027894 0 0 NRXN1 9378 broad.mit.edu 37 2 51254950 51254950 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:51254950G>A ENST00000404971.1 - 2 1801 c.462C>T c.(460-462)ttC>ttT p.F154F NRXN1_ENST00000402717.3_Silent_p.F154F|NRXN1_ENST00000405472.3_Silent_p.F154F|NRXN1_ENST00000405581.1_Silent_p.F154F|NRXN1_ENST00000401669.2_Silent_p.F154F|NRXN1_ENST00000406859.3_Silent_p.F154F|NRXN1_ENST00000406316.2_Silent_p.F154F NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 154 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCCCCCCGACGAAAAGGCCGC 0.662000 5 21 0 0 0.021553 0 0 USH2A 7399 broad.mit.edu 37 1 215901506 215901506 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:215901506C>G ENST00000366943.2 - 61 12318 c.11932G>C c.(11932-11934)Gct>Cct p.A3978P USH2A_ENST00000307340.3_Missense_Mutation_p.A3978P O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3978 Fibronectin type-III 25. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACTGAATGAGCACTCGTGGCT 0.488000 HNSCC(13;0.011) 37 63 0 0 0.023175 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502039 90502039 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:90502039C>T ENST00000325643.5 + 4 2703 c.2637C>T c.(2635-2637)gcC>gcT p.A879A NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CCCCCTGGGCCTCCTGGGTAT 0.557000 15 21 0 0 0.020292 0 0 GRM5 2915 broad.mit.edu 37 11 88258477 88258477 + Splice_Site SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:88258477C>A ENST00000418177.2 - 9 3093 c.2726_splice c.e9+1 p.S909_splice GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000305447.4_Splice_Site_p.S909_splice|GRM5_ENST00000455756.2_Intron P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 909 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GTTTGCTTACCTGCTCATTGT 0.507000 73 191 2.37984e-18 3.27548e-18 0.014410 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117432538 117432538 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:117432538G>T ENST00000160373.3 - 4 803 c.712C>A c.(712-714)Cgg>Agg p.R238R NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 238 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AGCTGTTCCCGCTCAGTGTCA 0.453000 13 39 2.27111e-07 2.559e-07 0.013537 1 0 BPI 671 broad.mit.edu 37 20 36952317 36952317 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:36952317C>T ENST00000262865.4 + 8 903 c.814C>T c.(814-816)Cca>Tca p.P272S CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_Intron NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 272 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TCCCTTTGCTCCACCAGTGAT 0.522000 23 45 0 0 0.016522 0 0 PRSS36 146547 broad.mit.edu 37 16 31160510 31160510 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:31160510G>T ENST00000268281.4 - 4 214 c.156C>A c.(154-156)aaC>aaA p.N52K PRSS36_ENST00000418068.2_Missense_Mutation_p.N52K|PRSS36_ENST00000569305.1_Missense_Mutation_p.N52K NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 52 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 CCGGCTGCGCGTTTGAGCCCC 0.701000 4 9 0.014758 0.015088 0.014758 1 0 ZNF831 128611 broad.mit.edu 37 20 57769304 57769304 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:57769304G>T ENST00000371030.2 + 1 3230 c.3230G>T c.(3229-3231)cGc>cTc p.R1077L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1077 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CGTATCCATCGCCTCTGCATG 0.637000 10 32 1.76689e-08 2.03383e-08 0.006214 1 0 CFTR 1080 broad.mit.edu 37 7 117267811 117267811 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:117267811G>T ENST00000003084.6 + 22 3836 c.3704G>T c.(3703-3705)aGt>aTt p.S1235I AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.S1174I NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1235 ABC transporter 2. S -> R (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TTCTCAATAAGTCCTGGCCAG 0.438000 Cystic Fibrosis 11 43 0.00136819 0.0014192 0.013537 1 0 TRPC7 57113 broad.mit.edu 37 5 135692763 135692763 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:135692763G>A ENST00000513104.1 - 2 595 c.313C>T c.(313-315)Cgg>Tgg p.R105W TRPC7_ENST00000355180.3_Missense_Mutation_p.R105W|TRPC7_ENST00000426057.2_Missense_Mutation_p.R105W NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 105 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding p.R105W(2) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCCCCCACCCGTGCCAGGTTC 0.652000 37 21 0 0 0.017118 0 0 DNAH7 56171 broad.mit.edu 37 2 196674504 196674504 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:196674504A>C ENST00000312428.6 - 52 9953 c.9853T>G c.(9853-9855)Tgt>Ggt p.C3285G NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3285 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATGGTTAGACAAAAGGAAAAG 0.368000 19 31 0 0 0.010504 0 0 TNS3 64759 broad.mit.edu 37 7 47408232 47408232 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:47408232C>T ENST00000398879.1 - 17 2377 c.2011G>A c.(2011-2013)Gga>Aga p.G671R TNS3_ENST00000311160.9_Missense_Mutation_p.G671R|TNS3_ENST00000355730.3_Missense_Mutation_p.G431R Q68CZ2 TENS3_HUMAN tensin 3 671 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 ACCTGGTCTCCTGGAAACCTG 0.632000 60 113 0 0 0.014410 0 0 ZNF430 80264 broad.mit.edu 37 19 21205625 21205625 + Nonsense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:21205625A>T ENST00000261560.5 + 2 215 c.34A>T c.(34-36)Aag>Tag p.K12* ZNF430_ENST00000599548.1_Nonsense_Mutation_p.K12*|ZNF430_ENST00000595401.1_Nonsense_Mutation_p.K12* NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 GTATCCTCTCAAGGAAGCAAG 0.448000 33 74 0 0 0.013726 0 0 EYA1 2138 broad.mit.edu 37 8 72229917 72229917 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:72229917C>G ENST00000340726.3 - 7 1065 c.426G>C c.(424-426)ttG>ttC p.L142F EYA1_ENST00000388741.2_Missense_Mutation_p.L108F|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388743.2_Missense_Mutation_p.L141F|EYA1_ENST00000303824.7_Intron|EYA1_ENST00000388740.3_Missense_Mutation_p.L109F|EYA1_ENST00000388742.4_Missense_Mutation_p.L142F NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 142 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TGCCTGCCCACAATGCACCTA 0.423000 37 96 0 0 0.027894 0 0 SYNE1 23345 broad.mit.edu 37 6 152605236 152605236 + Silent SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:152605236C>G ENST00000367255.5 - 96 18685 c.18084G>C c.(18082-18084)ctG>ctC p.L6028L SYNE1_ENST00000265368.4_Silent_p.L6028L|SYNE1_ENST00000341594.5_Silent_p.L5640L|SYNE1_ENST00000356820.4_Silent_p.L552L|SYNE1_ENST00000423061.1_Silent_p.L5957L|SYNE1_ENST00000448038.1_Silent_p.L5957L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6028 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) ACTCGGATACCAGCTCCTCTG 0.542000 HNSCC(10;0.0054) 35 25 0 0 0.017118 0 0 KRT6C 286887 broad.mit.edu 37 12 52862855 52862855 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:52862855G>A ENST00000252250.6 - 9 1733 c.1686C>T c.(1684-1686)taC>taT p.Y562Y NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 562 Tail. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) TTTAGTGCTTGTAGCTCTTCC 0.612000 4 50 0 0 0.009096 0 0 SLC41A2 84102 broad.mit.edu 37 12 105321903 105321903 + Missense_Mutation SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:105321903T>G ENST00000258538.3 - 1 530 c.403A>C c.(403-405)Ata>Cta p.I135L NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 135 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 TCACTAGATATATCTTCATCT 0.393000 34 75 0 0 0.017118 0 0 WSCD2 9671 broad.mit.edu 37 12 108603974 108603974 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:108603974G>C ENST00000332082.4 + 5 1392 c.574G>C c.(574-576)Gag>Cag p.E192Q WSCD2_ENST00000549903.1_Missense_Mutation_p.E192Q|WSCD2_ENST00000261400.3_Missense_Mutation_p.E192Q|WSCD2_ENST00000547525.1_Missense_Mutation_p.E192Q Q2TBF2 WSCD2_HUMAN WSC domain containing 2 192 WSC 1. integral to membrane p.E192K(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GAACGTGAGCGAGGCAGAGTG 0.677000 8 26 0 0 0.004482 0 0 DLC1 10395 broad.mit.edu 37 8 12957730 12957730 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:12957730C>T ENST00000276297.4 - 9 2525 c.2116G>A c.(2116-2118)Gag>Aag p.E706K DLC1_ENST00000512044.2_Missense_Mutation_p.E303K|DLC1_ENST00000358919.2_Missense_Mutation_p.E269K|DLC1_ENST00000520226.1_Missense_Mutation_p.E195K NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 706 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TTCAGCTTCTCCTCATCCATC 0.567000 21 33 0 0 0.010504 0 0 FCHO1 23149 broad.mit.edu 37 19 17887482 17887482 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:17887482C>G ENST00000594202.1 + 18 1525 c.1246C>G c.(1246-1248)Ccc>Gcc p.P416A FCHO1_ENST00000389133.4_Missense_Mutation_p.P416A|FCHO1_ENST00000252771.7_Missense_Mutation_p.P416A|FCHO1_ENST00000600676.1_Missense_Mutation_p.P416A|FCHO1_ENST00000595033.1_Missense_Mutation_p.P366A|FCHO1_ENST00000596536.1_Missense_Mutation_p.P416A|FCHO1_ENST00000596951.1_Missense_Mutation_p.P416A|FCHO1_ENST00000597512.1_Missense_Mutation_p.P423A|FCHO1_ENST00000539407.1_Missense_Mutation_p.P416A NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 416 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 TCGGTCTGCCCCCAGAACCAG 0.637000 13 41 0 0 0.013537 0 0 ANK2 287 broad.mit.edu 37 4 114214656 114214656 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:114214656C>A ENST00000357077.4 + 22 2490 c.2437C>A c.(2437-2439)Ctg>Atg p.L813M ANK2_ENST00000509550.1_Missense_Mutation_p.L22M|ANK2_ENST00000394537.3_Missense_Mutation_p.L813M|ANK2_ENST00000506722.1_Missense_Mutation_p.L792M|ANK2_ENST00000264366.6_Missense_Mutation_p.L813M NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 813 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGTCGACACCCTGAAGGTTGT 0.478000 17 26 5.3912e-06 5.87797e-06 0.006122 1 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112898559 112898559 + Silent SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:112898559T>G ENST00000374530.3 + 8 915 c.735T>G c.(733-735)ccT>ccG p.P245P AKAP2_ENST00000510514.5_Silent_p.P245P|PALM2-AKAP2_ENST00000302798.7_Silent_p.P245P|AKAP2_ENST00000259318.7_Silent_p.P14P|AKAP2_ENST00000434623.2_Silent_p.P103P|AKAP2_ENST00000555236.1_Silent_p.P245P|AKAP2_ENST00000374525.1_Silent_p.P103P NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 14 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 AAAGTGTTCCTGGAATCACCT 0.502000 31 88 0 0 0.019004 0 0 KCNIP4 80333 broad.mit.edu 37 4 21305453 21305453 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:21305453C>A ENST00000382150.4 - 1 159 c.77G>T c.(76-78)gGg>gTg p.G26V KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382152.2_Intron|KCNIP4_ENST00000509207.1_Intron NM_147183.3 NP_671712.1 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 0 KIS (By similarity). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) TTCAATCAGCCCAAACTGTTC 0.398000 8 37 0.000157383 0.00016594 0.003080 1 0 OR11A1 26531 broad.mit.edu 37 6 29394860 29394860 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:29394860C>A ENST00000377149.1 - 5 1031 c.559G>T c.(559-561)Ggc>Tgc p.G187C OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.G187C|OR11A1_ENST00000377147.2_Missense_Mutation_p.G187C Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 CAAGCCAGGCCCACGAAAAGC 0.507000 21 14 2.89027e-11 3.57099e-11 0.014323 1 0 AGBL1 123624 broad.mit.edu 37 15 86790944 86790944 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:86790944G>C ENST00000441037.2 + 6 526 c.431G>C c.(430-432)aGc>aCc p.S144T AGBL1_ENST00000421325.2_Missense_Mutation_p.S144T NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 144 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TACGTCACCAGCCTGCTCGGG 0.612000 12 11 0 0 0.010729 0 0 SCN1A 6323 broad.mit.edu 37 2 166850763 166850763 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:166850763A>G ENST00000423058.2 - 25 4762 c.4745T>C c.(4744-4746)gTg>gCg p.V1582A AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1554A|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1571A|SCN1A_ENST00000303395.4_Missense_Mutation_p.V1582A NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1582 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGTAAATAGCACAATGAACAC 0.378000 12 33 0 0 0.013537 0 0 ADCY1 107 broad.mit.edu 37 7 45697343 45697343 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:45697343C>A ENST00000297323.7 + 6 1188 c.1166C>A c.(1165-1167)aCc>aAc p.T389N ADCY1_ENST00000432715.1_Missense_Mutation_p.T164N NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 389 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GCTGAAGCCACCGAGGTGGAT 0.607000 5 15 1.23904e-05 1.33275e-05 0.014758 1 0 PUS7 54517 broad.mit.edu 37 7 105111200 105111200 + Nonsense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:105111200C>A ENST00000356362.2 - 11 1547 c.1333G>T c.(1333-1335)Gaa>Taa p.E445* PUS7_ENST00000469408.1_Nonsense_Mutation_p.E445* NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 445 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 AGCTGCCCTTCCACACACCTT 0.453000 56 89 2.17126e-26 3.20925e-26 0.014410 1 0 TTN 7273 broad.mit.edu 37 2 179577472 179577472 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:179577472T>A ENST00000589042.1 - 94 27504 c.27280A>T c.(27280-27282)Agc>Tgc p.S9094C TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8777C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7850C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8777 Ig-like 74. 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) GCTTCATTGCTAACTATGCAA 0.393000 25 69 0 0 0.016522 0 0 COL22A1 169044 broad.mit.edu 37 8 139833498 139833498 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:139833498C>A ENST00000303045.6 - 7 1572 c.1126G>T c.(1126-1128)Gtc>Ttc p.V376F COL22A1_ENST00000435777.1_Missense_Mutation_p.V376F NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 376 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGCAGGGAGACGTTCTGGGCC 0.562000 HNSCC(7;0.00092) 21 45 4.96729e-08 5.6769e-08 0.008871 1 0 TP53 7157 broad.mit.edu 37 17 7578463 7578463 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:7578463C>G ENST00000420246.2 - 5 599 c.467G>C c.(466-468)cGc>cCc p.R156P TP53_ENST00000359597.4_Missense_Mutation_p.R156P|TP53_ENST00000413465.2_Missense_Mutation_p.R156P|TP53_ENST00000445888.2_Missense_Mutation_p.R156P|TP53_ENST00000269305.4_Missense_Mutation_p.R156P|TP53_ENST00000455263.2_Missense_Mutation_p.R156P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 156 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (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.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(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) GGCGCGGACGCGGGTGCCGGG 0.612000 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) 17 43 0 0 0.004990 0 0 CC2D1B 200014 broad.mit.edu 37 1 52826198 52826198 + Translation_Start_Site SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:52826198G>A ENST00000438831.1 - 0 638 CC2D1B_ENST00000371586.2_Silent_p.H167H|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.H167H Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 CCAGCAAAGCGTGTAGCCCCT 0.632000 11 23 0 0 0.010729 0 0 FLG 2312 broad.mit.edu 37 1 152284331 152284331 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:152284331C>G ENST00000368799.1 - 3 3066 c.3031G>C c.(3031-3033)Gag>Cag p.E1011Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1011 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGGAAGTCTCTGCGTGAGGA 0.582000 Ichthyosis 138 260 0 0 0.014410 0 0 SGMS1 259230 broad.mit.edu 37 10 52103623 52103623 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:52103623G>A ENST00000361781.2 - 7 1211 c.252C>T c.(250-252)caC>caT p.H84H SGMS1_ENST00000361543.2_Silent_p.H84H|SGMS1_ENST00000429490.1_Intron NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 90 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CAATGTTGAGGTGCCCATTGG 0.512000 22 54 0 0 0.010504 0 0 ORMDL3 94103 broad.mit.edu 37 17 38079494 38079494 + Missense_Mutation SNP G G A rs139204234 byFrequency TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:38079494G>A ENST00000394169.1 - 5 1691 c.197C>T c.(196-198)aCg>aTg p.T66M ORMDL3_ENST00000579695.1_Missense_Mutation_p.T66M|ORMDL3_ENST00000584220.1_Missense_Mutation_p.T50M|ORMDL3_ENST00000304046.2_Missense_Mutation_p.T66M Q8N138 ORML3_HUMAN ORM1-like 3 (S. cerevisiae) 66 ceramide metabolic process integral to membrane|SPOTS complex protein binding endometrium(3)|kidney(1)|lung(1) 5 Colorectal(19;0.000442) Lung(15;0.0234) CCCCTTCACCGTGTGCAGGAA 0.582000 39 120 0 0 0.025465 0 0 CWC22 57703 broad.mit.edu 37 2 180851515 180851515 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:180851515C>G ENST00000410053.3 - 4 412 c.113G>C c.(112-114)cGa>cCa p.R38P CWC22_ENST00000295749.6_Missense_Mutation_p.R38P NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 38 Arg-rich. catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 CCGGGGGGATCGTTCTTGTTC 0.343000 18 17 0 0 0.006122 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32893875 32893875 + RNA SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:32893875C>A ENST00000330048.5 - 0 1382 NR_003083.2 TGACAGGGGACTGGCGGTCAG 0.612000 20 78 2.61193e-14 3.4115e-14 0.009535 1 0 BAGE2 85319 broad.mit.edu 37 21 11039216 11039216 + RNA SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:11039216G>T ENST00000470054.1 - 0 987 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) TGGAGGCCTTGATTCTTCTTT 0.428000 22 266 9.95505e-16 1.33849e-15 0.014323 1 0 MUC16 94025 broad.mit.edu 37 19 9070007 9070007 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:9070007C>G ENST00000397910.4 - 3 17642 c.17439G>C c.(17437-17439)gaG>gaC p.E5813D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5815 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 TCCTGGAGACCTCAGTAGTAG 0.493000 21 75 0 0 0.008871 0 0 TPD52 7163 broad.mit.edu 37 8 80976829 80976829 + Splice_Site SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:80976829C>A ENST00000379096.5 - 2 134 c.e2-1 TPD52_ENST00000519303.2_Splice_Site|TPD52_ENST00000379097.3_Splice_Site|TPD52_ENST00000448733.2_Splice_Site|TPD52_ENST00000520527.1_Splice_Site|TPD52_ENST00000537855.1_Splice_Site|TPD52_ENST00000518937.1_Splice_Site|TPD52_ENST00000517427.1_Splice_Site NM_005079.2 NP_005070.1 P55327 TPD52_HUMAN tumor protein D52 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) CTCAGCAGACCTGGTTGGGGA 0.463000 40 81 8.69298e-16 1.17126e-15 0.027894 1 0 CSMD3 114788 broad.mit.edu 37 8 113668416 113668416 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:113668416G>T ENST00000297405.5 - 18 3215 c.2971C>A c.(2971-2973)Cgt>Agt p.R991S CSMD3_ENST00000455883.2_Missense_Mutation_p.R887S|CSMD3_ENST00000343508.3_Missense_Mutation_p.R951S|CSMD3_ENST00000352409.3_Missense_Mutation_p.R991S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 991 CUB 5. 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 TTATTGGAACGACTGTTGTCT 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 70 4.7796e-09 5.59222e-09 0.024334 1 0 OR2T27 403239 broad.mit.edu 37 1 248813780 248813780 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:248813780T>A ENST00000344889.3 - 1 405 c.406A>T c.(406-408)Atg>Ttg p.M136L NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGCGGCTCATGAGGACAGGA 0.557000 20 48 0 0 0.027356 0 0 HECW2 57520 broad.mit.edu 37 2 197092955 197092955 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:197092955C>A ENST00000260983.2 - 22 3970 c.3788G>T c.(3787-3789)aGa>aTa p.R1263I HECW2_ENST00000409111.1_Missense_Mutation_p.R907I NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 1263 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GAAAAACTCTCTAGAAGGCCC 0.363000 20 29 8.10497e-08 9.21347e-08 0.010504 1 0 DDHD2 23259 broad.mit.edu 37 8 38095108 38095108 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:38095108C>G ENST00000397166.2 + 4 989 c.464C>G c.(463-465)tCt>tGt p.S155C DDHD2_ENST00000520272.2_Missense_Mutation_p.S155C NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 155 lipid catabolic process centrosome hydrolase activity|metal ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) AAACTGGAATCTCCCAACAGA 0.328000 7 14 0 0 0.003080 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41809959 41809959 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:41809959A>T ENST00000392006.3 + 13 2228 c.2055A>T c.(2053-2055)agA>agT p.R685S HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R596S|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R585S|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R585S|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R571S|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R585S|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R685S NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 685 Asn-rich.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 CCAACAACAGAGGCAGCTACA 0.612000 37 56 0 0 0.025465 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33535075 33535075 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:33535075C>A ENST00000504830.1 - 23 4804 c.4469G>T c.(4468-4470)gGc>gTc p.G1490V ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1405V NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1490 TSP type-1 8. 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 CTTCTGAAAGCCACCTCCACA 0.493000 HNSCC(64;0.19) 32 44 1.56442e-22 2.23488e-22 0.012213 1 0 LRRTM1 347730 broad.mit.edu 37 2 80529964 80529964 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:80529964C>T ENST00000295057.3 - 2 1637 c.981G>A c.(979-981)tcG>tcA p.S327S CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.S327S|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 327 LRRCT. axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 TGTTGAGCCACGAGGCTAGGG 0.637000 HNSCC(69;0.2) 7 17 0 0 0.001984 0 0 CNGA3 1261 broad.mit.edu 37 2 98999860 98999860 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:98999860C>T ENST00000393504.1 + 5 822 c.405C>T c.(403-405)ccC>ccT p.P135P CNGA3_ENST00000409937.1_Silent_p.P139P|CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000272602.2_Silent_p.P135P NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 135 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GCGCCTGGCCCCTGGCCAAAT 0.597000 9 39 0 0 0.004482 0 0 CNTN5 53942 broad.mit.edu 37 11 99941252 99941252 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:99941252C>G ENST00000524871.1 + 11 1549 c.1259C>G c.(1258-1260)aCg>aGg p.T420R CNTN5_ENST00000528682.1_Missense_Mutation_p.T420R|CNTN5_ENST00000527185.1_Missense_Mutation_p.T420R|CNTN5_ENST00000279463.3_Missense_Mutation_p.T420R|CNTN5_ENST00000418526.2_Missense_Mutation_p.T346R NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 420 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCCAGACCCACGTATCGTTGG 0.478000 16 30 0 0 0.006122 0 0 DIAPH3 81624 broad.mit.edu 37 13 60590252 60590252 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr13:60590252C>T ENST00000400324.4 - 6 874 c.654G>A c.(652-654)ggG>ggA p.G218G DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000400319.1_Silent_p.G148G|DIAPH3_ENST00000400330.1_Silent_p.G218G|DIAPH3_ENST00000377908.2_Silent_p.G207G|DIAPH3_ENST00000267215.4_Silent_p.G218G|DIAPH3_ENST00000400320.1_Silent_p.G172G|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 218 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding p.G218G(1) cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) ATAATCCAAGCCCTTCATGTC 0.313000 7 15 0 0 0.003080 0 0 DCC 1630 broad.mit.edu 37 18 50450211 50450211 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:50450211G>A ENST00000442544.2 + 4 1448 c.832G>A c.(832-834)Gaa>Aaa p.E278K DCC_ENST00000412726.1_Missense_Mutation_p.E126K NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 278 Ig-like C2-type 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ACGAGGCGAGGAAGTCATCCA 0.368000 41 48 0 0 0.010771 0 0 RASAL1 8437 broad.mit.edu 37 12 113543582 113543582 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:113543582G>A ENST00000546530.1 - 17 2055 c.1770C>T c.(1768-1770)ttC>ttT p.F590F RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.F588F|RASAL1_ENST00000261729.5_Silent_p.F588F|RASAL1_ENST00000548055.1_Silent_p.F589F NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 588 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 AGCGCTTCTTGAAGGCAAAGC 0.637000 31 54 0 0 0.010818 0 0 USH2A 7399 broad.mit.edu 37 1 216019335 216019335 + Silent SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:216019335A>T ENST00000366943.2 - 45 9272 c.8886T>A c.(8884-8886)ctT>ctA p.L2962L USH2A_ENST00000307340.3_Silent_p.L2962L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2962 Fibronectin type-III 16. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AACTCCAAAAAAGTGTGTAAT 0.398000 HNSCC(13;0.011) 11 26 0 0 0.016723 0 0 SNORD114-26 767606 broad.mit.edu 37 14 101453434 101453434 + RNA SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:101453434G>C ENST00000363543.1 + 0 52 NR_003219.1 ATGAATACGTGTCTGGAACTC 0.378000 25 86 0 0 0.027356 0 0 PXDNL 137902 broad.mit.edu 37 8 52287228 52287228 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:52287228A>G ENST00000356297.4 - 18 3721 c.3621T>C c.(3619-3621)ccT>ccC p.P1207P PXDNL_ENST00000543296.1_Silent_p.P1207P NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1207 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTCTTGTACCAGGAATCAGGT 0.483000 12 39 0 0 0.013537 0 0 KCNH2 3757 broad.mit.edu 37 7 150644574 150644574 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:150644574G>A ENST00000392968.2 - 11 3826 c.2706C>T c.(2704-2706)ttC>ttT p.F902F KCNH2_ENST00000330883.4_Silent_p.F658F|KCNH2_ENST00000262186.5_Silent_p.F998F Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 998 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CCCAGAAGCTGAAAATGTTGG 0.692000 5 11 0 0 0.021553 0 0 KIAA2013 90231 broad.mit.edu 37 1 11982754 11982754 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:11982754A>C ENST00000376572.3 - 2 2011 c.1826T>G c.(1825-1827)cTc>cGc p.L609R KIAA2013_ENST00000376576.3_Missense_Mutation_p.L609R NM_138346.2 NP_612355.1 Q8IYS2 K2013_HUMAN KIAA2013 609 integral to membrane endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGCTTGAAGAGGAAGAGGTG 0.597000 10 20 0 0 0.010729 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55443753 55443753 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:55443753G>T ENST00000398661.2 - 1 232 c.101C>A c.(100-102)cCc>cAc p.P34H HMGCLL1_ENST00000428842.1_Missense_Mutation_p.P34H|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.P34H|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P34H|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.P34H|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.P34H|HMGCLL1_ENST00000358072.5_Missense_Mutation_p.P34H NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 34 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) TACCTGCGCGGGGTCGAGCGC 0.647000 5 3 1.024e-07 1.16199e-07 0.014758 1 0 NFAT5 10725 broad.mit.edu 37 16 69727108 69727108 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:69727108C>G ENST00000349945.1 + 14 4650 c.3098C>G c.(3097-3099)tCt>tGt p.S1033C NFAT5_ENST00000354436.2_Missense_Mutation_p.S1109C|NFAT5_ENST00000567239.1_Missense_Mutation_p.S1126C|NFAT5_ENST00000432919.1_Missense_Mutation_p.S1127C|NFAT5_ENST00000393742.2_Missense_Mutation_p.S1033C|NFAT5_ENST00000566899.1_Missense_Mutation_p.S1033C NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1109 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ACAACCTCCTCTGAACAAATG 0.438000 35 122 0 0 0.017118 0 0 C1orf173 127254 broad.mit.edu 37 1 75097586 75097586 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:75097586C>A ENST00000326665.5 - 7 848 c.630G>T c.(628-630)agG>agT p.R210S C1orf173_ENST00000420661.2_Missense_Mutation_p.R13S NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 210 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTATGGAGTTCCTGAACTTCA 0.393000 39 51 1.47244e-24 2.15152e-24 0.025465 1 0 ZNF761 388561 broad.mit.edu 37 19 53960016 53960016 + RNA SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:53960016G>C ENST00000454407.1 + 0 2708 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ATGTGGTGAGGTTTTTAATCA 0.388000 6 70 0 0 0.021553 0 0 CT45A1 541466 broad.mit.edu 37 X 134856764 134856764 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:134856764A>T ENST00000370741.3 + 5 784 c.539A>T c.(538-540)cAc>cTc p.H180L CT45A1_ENST00000482795.1_3'UTR NM_001017417.1 NP_001017417.1 Q5HYN5 CT451_HUMAN cancer/testis antigen family 45, member A1 180 TTTGTTAAGCACCTTAAGAAG 0.383000 19 406 0 0 0.007291 0 0 TCAIM 285343 broad.mit.edu 37 3 44449031 44449031 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:44449031G>C ENST00000342649.4 + 11 1775 c.1348G>C c.(1348-1350)Gtg>Ctg p.V450L TCAIM_ENST00000417237.1_Missense_Mutation_p.V450L NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial TATACAAATGGTGGATTGTTG 0.358000 19 28 0 0 0.007413 0 0 TRPA1 8989 broad.mit.edu 37 8 72951141 72951141 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:72951141T>A ENST00000262209.4 - 19 2461 c.2254A>T c.(2254-2256)Atc>Ttc p.I752F TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 752 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GTTTCATTGATGATGCCAGTT 0.299000 26 46 0 0 0.018920 0 0 KIAA1211 57482 broad.mit.edu 37 4 57190344 57190344 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:57190344A>G ENST00000504228.1 + 8 3558 c.3453A>G c.(3451-3453)ccA>ccG p.P1151P KIAA1211_ENST00000541073.1_Silent_p.P1144P|KIAA1211_ENST00000264229.6_Silent_p.P1151P Q6ZU35 K1211_HUMAN KIAA1211 1151 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CTGCTCTGCCAGAAGAGAAGA 0.572000 16 37 0 0 0.006122 0 0 PKD1L1 168507 broad.mit.edu 37 7 47894539 47894539 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:47894539C>G ENST00000289672.2 - 30 4850 c.4800G>C c.(4798-4800)caG>caC p.Q1600H NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1600 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CAATTTCTATCTGTAGAGATT 0.398000 31 63 0 0 0.010818 0 0 OR8U1 219417 broad.mit.edu 37 11 56143839 56143839 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:56143839C>T ENST00000302270.1 + 1 740 c.740C>T c.(739-741)gCa>gTa p.A247V NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) CACATGCTGGCAGTCACCATA 0.488000 34 69 0 0 0.010818 0 0 PLCL2 23228 broad.mit.edu 37 3 17052928 17052928 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:17052928G>C ENST00000418129.2 + 2 2177 c.1712G>C c.(1711-1713)tGc>tCc p.C571S PLCL2_ENST00000396755.2_Missense_Mutation_p.C571S|PLCL2_ENST00000432376.1_Missense_Mutation_p.C571S NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 697 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 AAATGTGGTTGCCAAATTGTA 0.418000 29 31 0 0 0.007291 0 0 OR1L1 26737 broad.mit.edu 37 9 125424532 125424532 + Missense_Mutation SNP G G T rs142065229 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:125424532G>T ENST00000373686.1 + 1 688 c.688G>T c.(688-690)Gat>Tat p.D230Y Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 CTTTTTCTGCGATGATCAACC 0.428000 59 123 4.96213e-28 7.40272e-28 0.014410 1 0 FZD5 7855 broad.mit.edu 37 2 208632914 208632914 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:208632914C>A ENST00000295417.3 - 2 1103 c.550G>T c.(550-552)Gct>Tct p.A184S NM_003468.3 NP_003459.2 Q13467 FZD5_HUMAN frizzled family receptor 5 184 angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) GGGCCCCCAGCGGGGCATTCG 0.711000 12 11 4.36969e-10 5.22729e-10 0.016723 1 0 TCEB3C 162699 broad.mit.edu 37 18 44555173 44555173 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:44555173G>A ENST00000330682.2 - 1 1276 c.1041C>T c.(1039-1041)aaC>aaT p.N347N KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 347 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CGTCCGGATTGTTCCTAGGCA 0.647000 43 1066 0 0 0.006320 0 0 ACTR5 79913 broad.mit.edu 37 20 37378668 37378668 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:37378668C>T ENST00000243903.4 + 2 428 c.391C>T c.(391-393)Ccc>Tcc p.P131S NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 131 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) TGTTGATCATCCCATAGTTTT 0.413000 23 55 0 0 0.021523 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924289 45924289 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:45924289G>A ENST00000395629.2 + 5 1271 c.941G>A c.(940-942)cGg>cAg p.R314Q MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R324Q Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 324 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) ACGGCAGGGCGGCCGCACCCC 0.711000 7 10 0 0 0.001984 0 0 TRIM60 166655 broad.mit.edu 37 4 165962140 165962140 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:165962140C>A ENST00000512596.1 + 3 1132 c.916C>A c.(916-918)Cct>Act p.P306T TRIM60_ENST00000341062.5_Missense_Mutation_p.P306T|TRIM60_ENST00000508504.1_Missense_Mutation_p.P306T NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 306 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) CACAGCACATCCTCAACTTCT 0.383000 36 77 9.45814e-24 1.3695e-23 0.021022 1 0 SOX7 83595 broad.mit.edu 37 8 10583781 10583781 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:10583781C>A ENST00000304501.1 - 2 712 c.634G>T c.(634-636)Gtg>Ttg p.V212L SOX7_ENST00000554914.1_Missense_Mutation_p.V264L|SOX7_ENST00000553390.1_Missense_Mutation_p.V264L NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 212 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) GGCTCCAGCACGTCCAGGGGA 0.701000 17 25 7.07596e-05 7.49771e-05 0.006122 1 0 FPR2 2358 broad.mit.edu 37 19 52272136 52272136 + Silent SNP G G C rs147854636 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:52272136G>C ENST00000598776.1 + 2 997 c.225G>C c.(223-225)acG>acC p.T75T FPR2_ENST00000340023.6_Silent_p.T75T|FPR2_ENST00000598953.1_Silent_p.T75T NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 75 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 TTTCTTTCACGGCCACATTAC 0.512000 28 88 0 0 0.027356 0 0 RYR1 6261 broad.mit.edu 37 19 38948913 38948913 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:38948913T>A ENST00000355481.4 + 18 2279 c.2148T>A c.(2146-2148)gaT>gaA p.D716E RYR1_ENST00000360985.3_Missense_Mutation_p.D716E|RYR1_ENST00000359596.3_Missense_Mutation_p.D716E NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 716 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACGGCTTTGATGGACTGCATC 0.632000 23 79 0 0 0.016522 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127963 117127963 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:117127963C>A ENST00000310357.3 - 3 926 c.905G>T c.(904-906)aGt>aTt p.S302I GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.S302I NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 302 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CCAATTATCACTAGCAATCCA 0.363000 44 41 9.39024e-22 1.3355e-21 0.009718 1 0 CARD16 114769 broad.mit.edu 37 11 104912149 104912149 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:104912149G>C ENST00000375706.2 - 3 589 c.572C>G c.(571-573)aCt>aGt p.T191S CASP1_ENST00000415981.2_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 ATGAGTTCCAGTTTGCAACTC 0.393000 21 35 0 0 0.012319 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68274302 68274302 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:68274302C>A ENST00000347230.4 - 5 837 c.699G>T c.(697-699)ggG>ggT p.G233G ZFYVE26_ENST00000555452.1_Silent_p.G233G NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 233 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCAACTCAACCCCAAGTGGTT 0.637000 16 31 2.31682e-05 2.4754e-05 0.024245 1 0 CDH19 28513 broad.mit.edu 37 18 64239255 64239255 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:64239255T>C ENST00000262150.2 - 2 479 c.187A>G c.(187-189)Atc>Gtc p.I63V CDH19_ENST00000540086.1_Missense_Mutation_p.I63V NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 63 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) ACCTGGCCGATGTGATGACTA 0.378000 17 38 0 0 0.006122 0 0 TEX13A 56157 broad.mit.edu 37 X 104464879 104464879 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:104464879G>A ENST00000372578.3 - 2 314 c.203C>T c.(202-204)aCc>aTc p.T68I TEX13A_ENST00000413579.1_Missense_Mutation_p.T68I|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.T68I NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 68 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 GCTGCCCCAGGTGCAGGCCTC 0.582000 16 11 0 0 0.028581 0 0 OR3A1 4994 broad.mit.edu 37 17 3195410 3195410 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:3195410A>G ENST00000323404.1 - 1 466 c.467T>C c.(466-468)tTc>tCc p.F156S RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 TGCGTTGGTGAAAGCACAAGC 0.572000 47 102 0 0 0.011902 0 0 ADAM8 101 broad.mit.edu 37 10 135086312 135086312 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:135086312T>A ENST00000445355.3 - 8 745 c.695A>T c.(694-696)cAc>cTc p.H232L ADAM8_ENST00000485491.2_Missense_Mutation_p.H193L|ADAM8_ENST00000415217.3_Missense_Mutation_p.H232L NM_001109.4 NP_001100.3 B4DVM6 B4DVM6_HUMAN ADAM metallopeptidase domain 8 193 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) CTTGTCCACGTGATTCACCAC 0.672000 14 23 0 0 0.020292 0 0 GRID1 2894 broad.mit.edu 37 10 87487768 87487768 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:87487768C>A ENST00000327946.7 - 10 1462 c.1377G>T c.(1375-1377)caG>caT p.Q459H GRID1_ENST00000536331.1_Missense_Mutation_p.Q30H NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 459 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) AGCGCTTGGGCTGTCCTAGGA 0.473000 Multiple Myeloma(13;0.14) 38 54 1.22674e-20 1.72933e-20 0.008740 1 0 TGFBI 7045 broad.mit.edu 37 5 135379745 135379745 + Splice_Site SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:135379745A>G ENST00000442011.2 + 3 394 c.e3-1 TGFBI_ENST00000504185.1_Splice_Site|TGFBI_ENST00000305126.8_Splice_Site NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTCTTGTTACAGAGTCATCAG 0.537000 95 51 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179659227 179659227 + Missense_Mutation SNP C C T rs146000949 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:179659227C>T ENST00000589042.1 - 8 1521 c.1297G>A c.(1297-1299)Gtt>Att p.V433I TTN_ENST00000342175.6_Missense_Mutation_p.V433I|TTN_ENST00000359218.5_Missense_Mutation_p.V433I|TTN_ENST00000591111.1_Missense_Mutation_p.V433I|TTN_ENST00000360870.5_Missense_Mutation_p.V433I|TTN_ENST00000460472.2_Missense_Mutation_p.V433I|TTN_ENST00000342992.6_Missense_Mutation_p.V433I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 433 Ala-rich. 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) GCCATATCAACGGCAGCAACA 0.468000 17 78 0 0 0.007413 0 0 COL6A3 1293 broad.mit.edu 37 2 238277511 238277511 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:238277511G>T ENST00000295550.4 - 10 5047 c.4595C>A c.(4594-4596)gCg>gAg p.A1532E COL6A3_ENST00000353578.4_Missense_Mutation_p.A1326E|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1332E|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1326E|COL6A3_ENST00000472056.1_Missense_Mutation_p.A925E|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1331E NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1532 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCGACTCCCCGCAGACTTAAC 0.597000 34 46 3.90053e-15 5.17912e-15 0.012213 1 0 TBX15 6913 broad.mit.edu 37 1 119474346 119474346 + Silent SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:119474346A>T ENST00000369429.3 - 2 324 c.315T>A c.(313-315)gcT>gcA p.A105A TBX15_ENST00000207157.3_5'UTR Q96SF7 TBX15_HUMAN T-box 15 105 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) AAGACATGGCAGCAGGCACAG 0.537000 13 27 0 0 0.024245 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146741075 146741075 + Missense_Mutation SNP G G C rs138738227 by1000genomes TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:146741075G>C ENST00000361727.3 + 4 995 c.479G>C c.(478-480)cGc>cCc p.R160P NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 160 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.R160H(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CGCTATGTGCGCATAGTGCCT 0.433000 HNSCC(39;0.1) 27 79 0 0 0.006320 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106888648 106888648 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:106888648G>C ENST00000526355.1 - 1 602 c.134C>G c.(133-135)cCg>cGg p.P45R GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P45R|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P45R NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 45 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GGGCTCCAGCGGCCCGGGCGG 0.781000 2 5 0 0 0.004672 0 0 OR6A2 8590 broad.mit.edu 37 11 6816345 6816345 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:6816345T>C ENST00000332601.3 - 1 783 c.595A>G c.(595-597)Aca>Gca p.T199A NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGCTCTGCTGTGGACATATCA 0.468000 37 98 0 0 0.019004 0 0 SI 6476 broad.mit.edu 37 3 164724621 164724621 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:164724621C>A ENST00000264382.3 - 37 4451 c.4389G>T c.(4387-4389)caG>caT p.Q1463H NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1463 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAGGTTTCATCTGTGACCATC 0.358000 HNSCC(35;0.089) 40 14 3.77016e-25 5.5469e-25 0.013114 1 0 ATRNL1 26033 broad.mit.edu 37 10 117061411 117061411 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:117061411G>T ENST00000355044.3 + 17 2802 c.2676G>T c.(2674-2676)ctG>ctT p.L892L ATRNL1_ENST00000423111.2_5'UTR NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 892 PSI 4. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CATGCTCTCTGAGGACATCAT 0.378000 16 48 0.000308642 0.000323821 0.024245 1 0 MEF2C 4208 broad.mit.edu 37 5 88119602 88119602 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:88119602C>A ENST00000504921.2 - 2 676 c.4G>T c.(4-6)Ggg>Tgg p.G2W MEF2C_ENST00000539796.1_Missense_Mutation_p.G2W|MEF2C_ENST00000514028.1_Missense_Mutation_p.G2W|MEF2C_ENST00000340208.5_Missense_Mutation_p.G2W|MEF2C_ENST00000508569.1_Missense_Mutation_p.G2W|MEF2C_ENST00000437473.2_Missense_Mutation_p.G2W|MEF2C_ENST00000514015.1_Missense_Mutation_p.G2W|MEF2C_ENST00000510942.1_Missense_Mutation_p.G2W|MEF2C_ENST00000506554.1_Missense_Mutation_p.G2W|MEF2C_ENST00000424173.2_Missense_Mutation_p.G2W Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 2 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TTTTTTCTCCCCATAGTCCCC 0.338000 HNSCC(66;0.2) 136 137 1.82609e-66 2.84354e-66 0.014410 1 0 ZNF443 10224 broad.mit.edu 37 19 12542408 12542408 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:12542408C>G ENST00000301547.5 - 4 775 c.578G>C c.(577-579)gGa>gCa p.G193A CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 193 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 AGGTCCATCTCCACGCTGCAC 0.418000 36 93 0 0 0.023175 0 0 FAR1 84188 broad.mit.edu 37 11 13743308 13743308 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:13743308G>T ENST00000532502.1 + 1 1859 c.31G>T c.(31-33)Gct>Tct p.A11S FAR1_ENST00000354817.3_Missense_Mutation_p.A387S Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 387 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 TCTTCACAAAGCTATGGTGTT 0.328000 24 39 9.57634e-11 1.1674e-10 0.018920 1 0 AJAP1 55966 broad.mit.edu 37 1 4772252 4772252 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:4772252G>C ENST00000378191.4 + 2 703 c.322G>C c.(322-324)Gcg>Ccg p.A108P AJAP1_ENST00000378190.3_Missense_Mutation_p.A108P NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 108 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CCGGGACCAGGCGGCCGCCCT 0.736000 2 7 0 0 0.004672 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236619 140236619 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140236619T>C ENST00000307360.5 + 1 986 c.986T>C c.(985-987)aTg>aCg p.M329T PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.M329T|PCDHA7_ENST00000525929.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACCCACCTATGGTTGGTCAC 0.408000 34 39 0 0 0.019004 0 0 CSMD3 114788 broad.mit.edu 37 8 113267587 113267587 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:113267587G>T ENST00000297405.5 - 62 10176 c.9932C>A c.(9931-9933)tCa>tAa p.S3311* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3142*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3271*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3241* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3311 Sushi 26. 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 TGAAACCTCTGACTGGTATAT 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 50 1.42536e-11 1.77476e-11 0.024334 1 0 SETBP1 26040 broad.mit.edu 37 18 42532199 42532199 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:42532199A>G ENST00000282030.5 + 4 3190 c.2894A>G c.(2893-2895)cAa>cGa p.Q965R NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 965 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ACCAAGTTCCAAGTGTTCAGA 0.473000 Schinzel-Giedion syndrome 52 58 0 0 0.014410 0 0 UGT2B7 7364 broad.mit.edu 37 4 69978304 69978304 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:69978304C>A ENST00000305231.7 + 6 1486 c.1440C>A c.(1438-1440)gcC>gcA p.A480A UGT2B7_ENST00000508661.1_3'UTR NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 480 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGGTTGCAGCCCACGACCTCA 0.483000 52 118 4.25531e-23 6.10628e-23 0.014410 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84657464 84657464 + Silent SNP G G T rs141705388 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:84657464G>T ENST00000286744.5 + 22 3962 c.3738G>T c.(3736-3738)ggG>ggT p.G1246G ADAMTSL3_ENST00000567476.1_Silent_p.G1246G NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1246 Ig-like C2-type 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) ATGGAACTGGGAAGATACAGA 0.373000 8 39 5.18039e-06 5.67714e-06 0.003080 1 0 FRG1BP 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 41 0 0 0.021553 0 0 RFX1 5989 broad.mit.edu 37 19 14104570 14104570 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:14104570G>A ENST00000254325.4 - 2 320 c.86C>T c.(85-87)cCg>cTg p.P29L NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 29 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) tggcggtggcggctggggctg 0.711000 5 15 0 0 0.028581 0 0 GLRA2 2742 broad.mit.edu 37 X 14627215 14627215 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:14627215G>C ENST00000218075.4 + 7 1348 c.818G>C c.(817-819)tGg>tCg p.W273S GLRA2_ENST00000443437.2_Missense_Mutation_p.W184S|GLRA2_ENST00000355020.4_Missense_Mutation_p.W273S NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 273 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) ATTTTGTCCTGGGTTTCCTTT 0.473000 51 29 0 0 0.014410 0 0 C9 735 broad.mit.edu 37 5 39306836 39306836 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:39306836G>C ENST00000263408.4 - 9 1394 c.1299C>G c.(1297-1299)acC>acG p.T433T NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 433 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CATATTTTCTGGTTCCACCTC 0.403000 32 73 0 0 0.010818 0 0 VSTM4 196740 broad.mit.edu 37 10 50255035 50255035 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:50255035A>C ENST00000332853.3 - 7 853 c.830T>G c.(829-831)gTc>gGc p.V277G NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 277 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 TACCAGCGTGACTTTTCTCTG 0.453000 60 143 0 0 0.014410 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626897 108626897 + Silent SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:108626897T>A ENST00000264047.2 + 9 1599 c.1323T>A c.(1321-1323)tcT>tcA p.S441S SLC5A7_ENST00000540517.1_Silent_p.S336S|SLC5A7_ENST00000409059.1_Silent_p.S441S NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 441 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) GTTATGTTTCTGGCCTCTTCC 0.453000 16 49 0 0 0.028581 0 0 DGKK 139189 broad.mit.edu 37 X 50163498 50163498 + RNA SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:50163498G>T ENST00000376025.2 - 0 904 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TCGTTGTGGTGTAATAACCTA 0.388000 39 21 2.59497e-14 3.39628e-14 0.007835 1 0 ARHGAP35 2909 broad.mit.edu 37 19 47422368 47422368 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:47422368G>T ENST00000404338.3 + 1 436 c.436G>T c.(436-438)Gag>Tag p.E146* NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 146 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity GCAGGACTTTGAGCAGAAACA 0.483000 26 45 7.92952e-12 9.9119e-12 0.021523 1 0 LRP1B 53353 broad.mit.edu 37 2 141092122 141092122 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:141092122C>A ENST00000389484.3 - 79 13094 c.12123G>T c.(12121-12123)atG>atT p.M4041I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4041 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) CAGTCCAGTACATCATCCTGA 0.493000 TSP Lung(27;0.18) 18 41 1.67942e-08 1.94012e-08 0.006122 1 0 OR51B6 390058 broad.mit.edu 37 11 5373081 5373081 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:5373081C>G ENST00000380219.1 + 1 344 c.344C>G c.(343-345)gCc>gGc p.A115G AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCTTGCTTGCCATGGCTTAT 0.473000 13 63 0 0 0.013537 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132611 91132611 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:91132611G>C ENST00000373094.1 + 2 2217 c.1372G>C c.(1372-1374)Gat>Cat p.D458H PCDH11X_ENST00000361655.2_Missense_Mutation_p.D458H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D458H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D458H NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 458 Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CAAAGTGAAAGATGAAAATGA 0.403000 27 12 0 0 0.012213 0 0 NUTM2G 441457 broad.mit.edu 37 9 99694506 99694506 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:99694506G>A ENST00000354649.3 + 2 1234 c.519G>A c.(517-519)ggG>ggA p.G173G NUTM2G_ENST00000372322.3_Silent_p.G173G|HIATL2_ENST00000506067.1_Intron NM_001045477.2 NP_001038942.1 NUT family member 2G TGTCCCCAGGGAACGCTGGGC 0.682000 26 126 0 0 0.018920 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378026 16378026 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:16378026G>T ENST00000375679.4 + 13 1392 c.1281G>T c.(1279-1281)atG>atT p.M427I CLCNKB_ENST00000375667.3_Missense_Mutation_p.M258I NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GGTACTTCATGCCCATCTTTG 0.592000 48 104 1.65492e-34 2.5278e-34 0.014410 1 0 C17orf77 146723 broad.mit.edu 37 17 72588218 72588218 + Silent SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:72588218A>T ENST00000392620.1 + 3 395 c.33A>T c.(31-33)acA>acT p.T11T C17orf77_ENST00000328023.2_Silent_p.T11T|CD300LD_ENST00000375352.1_Intron NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 11 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 TTTCCCTGACATGTCTCCTTC 0.478000 48 92 0 0 0.014410 0 0 CLIC6 54102 broad.mit.edu 37 21 36042977 36042977 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:36042977G>C ENST00000360731.3 + 1 1290 c.1290G>C c.(1288-1290)gcG>gcC p.A430A CLIC6_ENST00000349499.2_Silent_p.A430A Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 430 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 GCGAGGCCGCGCGCGTGAACG 0.741000 5 4 0 0 0.014758 0 0 TNN 63923 broad.mit.edu 37 1 175092651 175092651 + Silent SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:175092651T>A ENST00000239462.4 + 12 2879 c.2766T>A c.(2764-2766)gcT>gcA p.A922A NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 922 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACACCTCTGCTGACGGAGAGA 0.597000 17 59 0 0 0.018920 0 0 CLN3 1201 broad.mit.edu 37 16 28493805 28493805 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:28493805T>A ENST00000569430.1 - 13 1718 c.899A>T c.(898-900)cAg>cTg p.Q300L CLN3_ENST00000357857.9_Missense_Mutation_p.Q246L|CLN3_ENST00000333496.9_Missense_Mutation_p.Q276L|CLN3_ENST00000535392.1_Missense_Mutation_p.Q222L|CLN3_ENST00000395653.4_Missense_Mutation_p.Q200L|CLN3_ENST00000565316.1_Intron|CLN3_ENST00000357806.7_Missense_Mutation_p.Q201L|CLN3_ENST00000568224.1_Missense_Mutation_p.Q222L|CLN3_ENST00000354630.5_Intron|CLN3_ENST00000355477.5_Missense_Mutation_p.Q252L|CLN3_ENST00000567963.1_Missense_Mutation_p.Q300L|CLN3_ENST00000359984.7_Missense_Mutation_p.Q300L|CLN3_ENST00000360019.2_Missense_Mutation_p.Q300L|CLN3_ENST00000357076.5_Missense_Mutation_p.Q190L Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 300 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 TACAAGTCCCTGGTTAATGAA 0.547000 22 38 0 0 0.012319 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209711 140209711 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140209711T>A ENST00000529310.1 + 1 2149 c.2035T>A c.(2035-2037)Tca>Aca p.S679T PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAAAGGCGTCATCACGGGC 0.677000 40 29 0 0 0.007835 0 0 CASD1 64921 broad.mit.edu 37 7 94183816 94183816 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:94183816A>G ENST00000297273.4 + 17 2343 c.2056A>G c.(2056-2058)Aga>Gga p.R686G NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 686 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CATCCTAATAAGAAACATCCC 0.274000 24 59 0 0 0.006320 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110455181 110455181 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:110455181T>A ENST00000378402.5 + 36 4504 c.4400T>A c.(4399-4401)tTt>tAt p.F1467Y NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1467 IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCAGGTTCATTTTCTTACCAA 0.318000 HNSCC(38;0.096) 21 36 0 0 0.027356 0 0 COQ5 84274 broad.mit.edu 37 12 120947835 120947835 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:120947835G>C ENST00000288532.6 - 4 706 c.666C>G c.(664-666)gtC>gtG p.V222V COQ5_ENST00000445328.2_Silent_p.V148V NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 222 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAATGTGTGTGACATTCCGGA 0.438000 15 37 0 0 0.020292 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20876190 20876190 + Splice_Site SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:20876190T>G ENST00000381552.1 + 9 1554 c.e9+2 SLCO1C1_ENST00000266509.2_Splice_Site|SLCO1C1_ENST00000540354.1_Splice_Site|SLCO1C1_ENST00000545102.1_Splice_Site|SLCO1C1_ENST00000545604.1_Splice_Site Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TTGTGATCGGTATGCTCATCT 0.443000 17 40 0 0 0.006122 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35129971 35129971 + RNA SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:35129971T>C ENST00000436258.1 - 0 3398 TAAAACATAATAATTCACATG 0.328000 56 135 0 0 0.014410 0 0 IGKV3D-20 28874 broad.mit.edu 37 2 90078030 90078030 + RNA SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:90078030G>A ENST00000390270.2 + 0 164 CGGAGAAATTGTGTTGACGCA 0.488000 37 21 0 0 0.021022 0 0 RNF182 221687 broad.mit.edu 37 6 13977639 13977639 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:13977639G>A ENST00000488300.1 + 3 812 c.289G>A c.(289-291)Ggg>Agg p.G97R RNF182_ENST00000544682.1_Missense_Mutation_p.G97R|RNF182_ENST00000537388.1_Missense_Mutation_p.G97R|RNF182_ENST00000537663.1_Missense_Mutation_p.G97R NM_152737.3 NP_689950.1 Q8N6D2 RN182_HUMAN ring finger protein 182 97 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) TGGAGGCAAAGGGAAGAAGTG 0.542000 58 84 0 0 0.014410 0 0 POTEM 641455 broad.mit.edu 37 14 20019955 20019955 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:20019955G>A ENST00000551509.1 - 1 317 c.266C>T c.(265-267)tCt>tTt p.S89F NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 89 endometrium(4)|kidney(1)|lung(4) 9 CTTCATAGCAGAGTCGTCGTG 0.627000 32 290 0 0 0.014410 0 0 TBX18 9096 broad.mit.edu 37 6 85446515 85446515 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:85446515G>T ENST00000369663.5 - 8 2049 c.1712C>A c.(1711-1713)cCt>cAt p.P571H TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 571 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TCCTTCCACAGGGGGCAACAT 0.522000 40 18 4.0492e-12 5.12152e-12 0.027894 1 0 NXF3 56000 broad.mit.edu 37 X 102332651 102332651 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:102332651A>T ENST00000395065.3 - 18 1576 c.1475T>A c.(1474-1476)cTc>cAc p.L492H NXF3_ENST00000425644.1_Missense_Mutation_p.L164H|NXF3_ENST00000497850.1_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 492 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CCGCACAAAGAGCTTGTCATT 0.572000 42 22 0 0 0.008740 0 0 CNTN5 53942 broad.mit.edu 37 11 99715885 99715885 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:99715885C>A ENST00000524871.1 + 6 758 c.468C>A c.(466-468)acC>acA p.T156T CNTN5_ENST00000528682.1_Silent_p.T156T|CNTN5_ENST00000527185.1_Silent_p.T156T|CNTN5_ENST00000279463.3_Silent_p.T156T|CNTN5_ENST00000418526.2_Silent_p.T82T NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 156 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TAGATGGCACCTTCATTATAA 0.373000 35 69 8.53417e-09 9.93068e-09 0.013726 1 0 DLGAP1 9229 broad.mit.edu 37 18 3879384 3879384 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:3879384C>G ENST00000315677.3 - 4 1280 c.685G>C c.(685-687)Gac>Cac p.D229H DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D229H|DLGAP1_ENST00000581527.1_Missense_Mutation_p.D229H|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D229H NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 229 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GCCGAGCGGTCGGGGCACCTG 0.647000 152 187 0 0 0.014410 0 0 NLGN2 57555 broad.mit.edu 37 17 7317751 7317751 + Silent SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:7317751A>T ENST00000302926.2 + 3 670 c.597A>T c.(595-597)tcA>tcT p.S199S NLGN2_ENST00000575301.1_Silent_p.S199S NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 199 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) TCGATGGCTCAGTCCTGGCTG 0.597000 27 73 0 0 0.008361 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986125 11986125 + RNA SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:11986125G>T ENST00000434078.2 + 0 608 NR_027425.1 GAGCTGCCTGGATATCCAGGG 0.473000 7 28 0.00448238 0.00461952 0.004482 1 0 FOXG1 2290 broad.mit.edu 37 14 29236541 29236541 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:29236541G>T ENST00000382535.3 + 2 425 c.56G>T c.(55-57)aGc>aTc p.S19I FOXG1_ENST00000313071.4_Missense_Mutation_p.S19I P55316 FOXG1_HUMAN forkhead box G1 19 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TCCTCGTTCAGCATCAACAGC 0.652000 7 18 1.12685e-05 1.21822e-05 0.004482 1 0 DNM2 1785 broad.mit.edu 37 19 10893766 10893766 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:10893766C>T ENST00000314646.5 + 6 983 c.819C>T c.(817-819)ggC>ggT p.G273G DNM2_ENST00000359692.6_Silent_p.G273G|DNM2_ENST00000408974.4_Silent_p.G273G|DNM2_ENST00000585892.1_Silent_p.G273G|DNM2_ENST00000355667.6_Silent_p.G273G|DNM2_ENST00000389253.4_Silent_p.G273G P50570 DYN2_HUMAN dynamin 2 273 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) ACCGCATGGGCACGCCACATC 0.577000 """F, N, Splice, Mis, O""" ETP ALL 15 47 0 0 0.006122 0 0 ZNF518B 85460 broad.mit.edu 37 4 10444812 10444812 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:10444812G>A ENST00000326756.3 - 3 3579 c.3141C>T c.(3139-3141)gaC>gaT p.D1047D NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 1047 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 ACTCTTCCTGGTCTTCATACA 0.413000 31 80 0 0 0.009535 0 0 SMYD1 150572 broad.mit.edu 37 2 88405918 88405918 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:88405918G>C ENST00000419482.2 + 8 1141 c.1056G>C c.(1054-1056)cgG>cgC p.R352R SMYD1_ENST00000444564.2_Silent_p.R339R|SMYD1_ENST00000438570.1_Intron NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 ACATGCTGCGGATGCTGAGCA 0.547000 22 41 0 0 0.014323 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854287 12854287 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:12854287G>A ENST00000332296.7 + 3 614 c.511G>A c.(511-513)Gtt>Att p.V171I NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 171 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTTCCAGTGGGTTTACCAAAG 0.433000 83 283 0 0 0.014410 0 0 PEX11A 8800 broad.mit.edu 37 15 90227164 90227164 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:90227164T>C ENST00000300056.3 - 3 337 c.188A>G c.(187-189)aAt>aGt p.N63S PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000559170.1_Silent_p.Q24Q|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Intron NM_001271573.1 NP_001258502.1 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha 63 cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane endometrium(2)|large_intestine(2)|lung(3) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) ATGTACCACATTGCCTAGTCT 0.448000 23 48 0 0 0.014323 0 0 NSD1 64324 broad.mit.edu 37 5 176637520 176637520 + Nonsense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:176637520C>G ENST00000439151.2 + 5 2165 c.2120C>G c.(2119-2121)tCa>tGa p.S707* NSD1_ENST00000361032.4_Nonsense_Mutation_p.S604*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S438*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S438* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 707 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) ATTAGTAACTCACATACAGAC 0.403000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 43 25 0 0 0.008740 0 0 TRIM16L 147166 broad.mit.edu 37 17 18638707 18638707 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:18638707C>A ENST00000449552.2 + 7 2465 c.981C>A c.(979-981)atC>atA p.I327I TRIM16L_ENST00000395672.2_Silent_p.I327I|TRIM16L_ENST00000395671.4_Silent_p.I327I|TRIM16L_ENST00000571708.1_Silent_p.I327I|TRIM16L_ENST00000572555.1_Silent_p.I327I|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000395902.3_Silent_p.I381I Q309B1 TR16L_HUMAN tripartite motif containing 16-like 327 B30.2/SPRY. cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 AAAACGCCATCCGGATTGTAG 0.527000 8 33 3.52763e-06 3.89256e-06 0.004990 1 0 HMGCS1 3157 broad.mit.edu 37 5 43298817 43298817 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:43298817T>C ENST00000325110.6 - 3 457 c.251A>G c.(250-252)tAt>tGt p.Y84C HMGCS1_ENST00000433297.2_Missense_Mutation_p.Y84C NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 84 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 AATGCAATCATAGGAAAGGTT 0.428000 70 116 0 0 0.014410 0 0 BDP1 55814 broad.mit.edu 37 5 70798483 70798483 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:70798483A>G ENST00000358731.4 + 15 2369 c.2106A>G c.(2104-2106)gtA>gtG p.V702V BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 702 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TAAGACCTGTACAAGTGAGGG 0.383000 23 14 0 0 0.018920 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27844781 27844781 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:27844781G>C ENST00000318304.8 + 27 3086 c.2803G>C c.(2803-2805)Gga>Cga p.G935R PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G904R|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G782R|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G929R NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 935 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) ACAGGCATCAGGAAGTGCATC 0.403000 38 81 0 0 0.027894 0 0 TLR4 7099 broad.mit.edu 37 9 120470943 120470943 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:120470943C>T ENST00000355622.6 + 2 297 c.196C>T c.(196-198)Ctg>Ttg p.L66L TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.L26L NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 66 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CTTTAATCCCCTGAGGCATTT 0.443000 52 132 0 0 0.014410 0 0 SCN9A 6335 broad.mit.edu 37 2 167056253 167056253 + Silent SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:167056253C>G ENST00000375387.4 - 27 5239 c.4899G>C c.(4897-4899)acG>acC p.T1633T AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.T1621T|SCN9A_ENST00000303354.6_Silent_p.T1633T|SCN9A_ENST00000409435.1_Silent_p.T1632T Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1632 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CAAAGAGCAGCGTGCGGATCC 0.502000 53 110 0 0 0.014410 0 0 USP19 10869 broad.mit.edu 37 3 49149744 49149744 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:49149744C>A ENST00000453664.1 - 19 3020 c.2702G>T c.(2701-2703)cGg>cTg p.R901L USP19_ENST00000434032.2_Missense_Mutation_p.R911L|USP19_ENST00000398892.3_Missense_Mutation_p.R850L|USP19_ENST00000398896.1_Missense_Mutation_p.R618L|USP19_ENST00000398888.2_Missense_Mutation_p.R810L|USP19_ENST00000398898.2_Missense_Mutation_p.R850L|USP19_ENST00000417901.1_Missense_Mutation_p.R913L NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 810 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACGGTAGCACCGGGTACAGCG 0.617000 4 6 1.23904e-05 1.33275e-05 0.014758 1 0 PAPPA2 60676 broad.mit.edu 37 1 176526361 176526361 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:176526361C>A ENST00000367662.3 + 2 2067 c.903C>A c.(901-903)aaC>aaA p.N301K PAPPA2_ENST00000367661.3_Missense_Mutation_p.N301K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 301 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GACAGAACAACCCAGCCATCA 0.577000 4 13 0.000602214 0.000627715 0.014758 1 0 PPP2R2B 5521 broad.mit.edu 37 5 146017900 146017900 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:146017900C>G ENST00000394413.3 - 6 1274 c.704G>C c.(703-705)tGc>tCc p.C235S PPP2R2B_ENST00000504198.1_Missense_Mutation_p.C241S|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.C224S|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.C235S|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.C293S|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.C301S|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.C235S|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.C238S|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.C224S|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.C235S Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 235 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAAGGTGTTGCAATGATGGGG 0.542000 43 21 0 0 0.007835 0 0 FAT3 120114 broad.mit.edu 37 11 92564960 92564960 + Silent SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:92564960T>A ENST00000298047.6 + 13 9671 c.9654T>A c.(9652-9654)tcT>tcA p.S3218S FAT3_ENST00000525166.1_Silent_p.S3068S|FAT3_ENST00000409404.2_Silent_p.S3218S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3218 Cadherin 29. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCCTGTCCTCTCTCACTACTG 0.577000 TCGA Ovarian(4;0.039) 11 11 0 0 0.008291 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8219105 8219105 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:8219105C>A ENST00000361926.3 + 8 1564 c.1454C>A c.(1453-1455)tCt>tAt p.S485Y ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S485Y NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 485 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CGTGTGCGCTCTTCCCCCCAC 0.577000 17 18 5.35267e-07 5.99949e-07 0.007413 1 0 MSANTD3-TMEFF1 100526694 broad.mit.edu 37 9 103204596 103204596 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:103204596C>A ENST00000502978.1 + 1 44 c.44C>A c.(43-45)cCc>cAc p.P15H MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000395067.2_Missense_Mutation_p.P126T|MSANTD3_ENST00000374885.1_Missense_Mutation_p.P126T|TMEFF1_ENST00000334943.6_Missense_Mutation_p.P13T NM_001198812.1 NP_001185741.1 Q8IYR6 TEFF1_HUMAN 44 multicellular organismal development integral to membrane|plasma membrane GCAGAGCCCCCCGGAGGAGGA 0.587000 15 36 5.01169e-05 5.33691e-05 0.004990 1 0 AGPS 8540 broad.mit.edu 37 2 178301756 178301756 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:178301756G>T ENST00000264167.4 + 5 757 c.611G>T c.(610-612)cGa>cTa p.R204L AGPS_ENST00000409888.1_Intron NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 204 FAD-binding PCMH-type. ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity p.R204Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) ATGTTTGAGCGAATTCCTGAT 0.303000 30 72 3.67414e-24 5.3442e-24 0.012213 1 0 LDHC 3948 broad.mit.edu 37 11 18472631 18472631 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:18472631G>T ENST00000541669.1 + 8 1067 c.956G>T c.(955-957)aGt>aTt p.S319I LDHC_ENST00000544105.1_3'UTR|LDHC_ENST00000546146.1_3'UTR|LDHC_ENST00000280704.4_Missense_Mutation_p.S319I|LDHC_ENST00000537486.1_3'UTR|LDHC_ENST00000536880.1_Missense_Mutation_p.S305I|LDHC_ENST00000535809.1_3'UTR P07864 LDHC_HUMAN lactate dehydrogenase C 319 glycolysis cytoplasm binding|L-lactate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) TTCAAGAAGAGTGCAGAAACA 0.388000 29 55 1.2476e-16 1.68808e-16 0.006320 1 0 CARD6 84674 broad.mit.edu 37 5 40843302 40843302 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:40843302G>C ENST00000254691.5 + 2 531 c.332G>C c.(331-333)aGc>aCc p.S111T CARD6_ENST00000381677.3_Missense_Mutation_p.S111T NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 111 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 ATGGGGGCAAGCAGTAATTCA 0.383000 50 83 0 0 0.014410 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68919654 68919654 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:68919654A>G ENST00000356291.2 - 10 1349 c.1290T>C c.(1288-1290)gaT>gaC p.D430D RP11-453E17.1_ENST00000500538.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 430 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 AGGCAATCCAATCTCGATACT 0.408000 33 60 0 0 0.013726 0 0 SEMA5B 54437 broad.mit.edu 37 3 122662294 122662294 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:122662294G>T ENST00000195173.4 - 4 720 c.417C>A c.(415-417)atC>atA p.I139I SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000451055.2_Silent_p.I193I|SEMA5B_ENST00000357599.3_Silent_p.I139I Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 139 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) TGGCTCCCACGATGAGCTGGT 0.602000 9 16 1.76689e-08 2.03383e-08 0.006214 1 0 GAS2L2 246176 broad.mit.edu 37 17 34074283 34074283 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:34074283G>A ENST00000254466.6 - 5 864 c.837C>T c.(835-837)caC>caT p.H279H GAS2L2_ENST00000587565.1_Silent_p.H263H NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 279 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGCCTGGCTTGTGTGCTACCA 0.597000 52 101 0 0 0.014410 0 0 FAM86DP 692099 broad.mit.edu 37 3 75471976 75471976 + RNA SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:75471976T>G ENST00000459803.1 - 0 1165 NR_024241.1 AGAGGGCAGTTTGTGGTTTCT 0.393000 6 4 0 0 0.021553 0 0 MRO 83876 broad.mit.edu 37 18 48331580 48331580 + Missense_Mutation SNP C C T rs143359256 by1000genomes TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:48331580C>T ENST00000428869.2 - 6 631 c.373G>A c.(373-375)Ggt>Agt p.G125S MRO_ENST00000256425.2_Missense_Mutation_p.G125S|MRO_ENST00000398439.3_Missense_Mutation_p.G125S|MRO_ENST00000431965.2_Missense_Mutation_p.G139S|MRO_ENST00000588444.1_Missense_Mutation_p.G125S|MRO_ENST00000436348.2_Missense_Mutation_p.G139S|MRO_ENST00000587291.1_5'UTR Q9BYG7 MSTRO_HUMAN maestro 125 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) GAACCCAAACCTTTCCCCTGG 0.433000 50 45 0 0 0.014410 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554035 140554035 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140554035C>T ENST00000231137.3 + 1 1793 c.1619C>T c.(1618-1620)gCg>gTg p.A540V NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 540 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCTCCCCCGCGCTGAGCAGC 0.697000 45 32 0 0 0.010771 0 0 APC2 10297 broad.mit.edu 37 19 1466497 1466497 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:1466497C>T ENST00000535453.1 + 14 4910 c.3197C>T c.(3196-3198)tCg>tTg p.S1066L C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.S1066L|APC2_ENST00000238483.4_Missense_Mutation_p.S792L O95996 APC2_HUMAN adenomatosis polyposis coli 2 1066 5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCCACTCTCGCTGTCCCGA 0.682000 5 10 0 0 0.014758 0 0 MBD1 4152 broad.mit.edu 37 18 47806252 47806252 + Splice_Site SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:47806252C>T ENST00000591416.1 - 2 542 c.e2+1 MBD1_ENST00000398493.1_Splice_Site|MBD1_ENST00000398495.2_Splice_Site|MBD1_ENST00000382948.5_Splice_Site|MBD1_ENST00000353909.3_Splice_Site|MBD1_ENST00000591535.1_Splice_Site|MBD1_ENST00000585672.1_Splice_Site|MBD1_ENST00000339998.6_Splice_Site|MBD1_ENST00000269468.5_Splice_Site|MBD1_ENST00000269471.5_Splice_Site|MBD1_ENST00000590208.1_Splice_Site|MBD1_ENST00000457839.2_Splice_Site|MBD1_ENST00000588937.1_Splice_Site|MBD1_ENST00000587605.1_Splice_Site|MBD1_ENST00000424334.2_Splice_Site|MBD1_ENST00000349085.2_Splice_Site|MBD1_ENST00000585595.1_Splice_Site|MBD1_ENST00000436910.1_Splice_Site|MBD1_ENST00000347968.3_Splice_Site|MBD1_ENST00000398488.1_Splice_Site Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CCACCCAGTACCTCTGGTAAT 0.537000 16 50 0 0 0.004990 0 0 ADAM11 4185 broad.mit.edu 37 17 42852065 42852065 + Splice_Site SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:42852065G>T ENST00000200557.6 + 14 1337 c.e14-1 ADAM11_ENST00000535346.1_Splice_Site NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) TCACCCCTCAGGGGACTGCAA 0.652000 11 47 6.40141e-05 6.7942e-05 0.010729 1 0 MECOM 2122 broad.mit.edu 37 3 168834254 168834254 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:168834254T>C ENST00000464456.1 - 7 2042 c.842A>G c.(841-843)tAt>tGt p.Y281C MECOM_ENST00000494292.1_Missense_Mutation_p.Y469C|MECOM_ENST00000433243.2_Missense_Mutation_p.Y282C|MECOM_ENST00000392736.3_Missense_Mutation_p.Y281C|MECOM_ENST00000264674.3_Missense_Mutation_p.Y346C|MECOM_ENST00000472280.1_Missense_Mutation_p.Y282C|MECOM_ENST00000468789.1_Missense_Mutation_p.Y281C|MECOM_ENST00000460814.1_Missense_Mutation_p.Y281C 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 GGCGCCAAAATAGTCAGCAAG 0.493000 15 79 0 0 0.024245 0 0 OR9A2 135924 broad.mit.edu 37 7 142723861 142723861 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:142723861A>T ENST00000350513.2 - 1 421 c.359T>A c.(358-360)gTg>gAg p.V120E NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) ACACACAGCCACATAACGGTC 0.438000 28 57 0 0 0.027356 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18474230 18474230 + Translation_Start_Site SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:18474230C>A ENST00000380548.4 + 0 339 ADAMTSL1_ENST00000431052.2_De_novo_Start_InFrame|ADAMTSL1_ENST00000380566.4_De_novo_Start_InFrame|ADAMTSL1_ENST00000327883.7_De_novo_Start_InFrame|ADAMTSL1_ENST00000276935.6_Intron|ADAMTSL1_ENST00000380570.4_De_novo_Start_InFrame NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) AGGATCCAAGCATGGAATGCT 0.512000 38 36 1.07121e-22 1.53372e-22 0.027894 1 0 PPFIA2 8499 broad.mit.edu 37 12 81768458 81768458 + Silent SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:81768458A>T ENST00000550584.2 - 10 1516 c.1221T>A c.(1219-1221)ccT>ccA p.P407P PPFIA2_ENST00000550359.2_Silent_p.P254P|PPFIA2_ENST00000548586.1_Silent_p.P407P|PPFIA2_ENST00000552948.1_Silent_p.P407P|PPFIA2_ENST00000443686.3_Silent_p.P308P|PPFIA2_ENST00000549396.1_Silent_p.P407P|PPFIA2_ENST00000407050.4_Silent_p.P333P|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Silent_p.P389P|PPFIA2_ENST00000333447.7_Silent_p.P389P NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 333 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CCTCTACTTCAGGCAAGGTTT 0.433000 39 61 0 0 0.025465 0 0 ENPEP 2028 broad.mit.edu 37 4 111452358 111452358 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:111452358A>G ENST00000265162.5 + 11 2074 c.1732A>G c.(1732-1734)Aca>Gca p.T578A NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 578 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ttttaGTTATACATGGAATAT 0.204000 15 22 0 0 0.028581 0 0 FZD4 8322 broad.mit.edu 37 11 86662821 86662821 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:86662821G>A ENST00000531380.1 - 2 1282 c.977C>T c.(976-978)aCt>aTt p.T326I PRSS23_ENST00000533902.2_3'UTR NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 326 canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CAAAAACCAAGTGAGTGTCAG 0.453000 13 23 0 0 0.016723 0 0 CUBN 8029 broad.mit.edu 37 10 16870935 16870935 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:16870935C>G ENST00000377833.4 - 66 10698 c.10633G>C c.(10633-10635)Gct>Cct p.A3545P NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3545 CUB 27. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGCCTTCCAGCAGGAGCAACA 0.522000 65 44 0 0 0.014410 0 0 GRM1 2911 broad.mit.edu 37 6 146755793 146755793 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:146755793C>T ENST00000361719.2 + 9 3916 c.3446C>T c.(3445-3447)tCg>tTg p.S1149L GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.S1149L|GRM1_ENST00000507907.1_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1149 Ser-rich. synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ACGCCTCCGTCGCCTTTCCGC 0.657000 5 43 0 0 0.014758 0 0 DMBT1 1755 broad.mit.edu 37 10 124399936 124399936 + Silent SNP G G C rs112912048 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:124399936G>C ENST00000338354.3 + 52 7042 c.6936G>C c.(6934-6936)acG>acC p.T2312T DMBT1_ENST00000368956.2_Silent_p.T1684T|DMBT1_ENST00000368955.3_Silent_p.T2302T|DMBT1_ENST00000344338.3_Silent_p.T2302T|DMBT1_ENST00000368909.3_Silent_p.T2312T|DMBT1_ENST00000359586.6_Silent_p.T1032T|DMBT1_ENST00000330163.4_Silent_p.T1684T Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2312 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATGACTTCACGTCTTTGACTT 0.458000 19 40 0 0 0.007413 0 0 F13B 2165 broad.mit.edu 37 1 197030098 197030098 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:197030098C>A ENST00000367412.1 - 4 602 c.559G>T c.(559-561)Gct>Tct p.A187S NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 187 Sushi 3. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TTTCCTCCAGCTGTGTAGTAG 0.388000 30 84 3.1745e-13 4.0715e-13 0.008361 1 0 VEPH1 79674 broad.mit.edu 37 3 157146169 157146169 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:157146169G>T ENST00000362010.2 - 5 945 c.638C>A c.(637-639)cCa>cAa p.P213Q VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392833.2_Missense_Mutation_p.P213Q|VEPH1_ENST00000543418.1_Missense_Mutation_p.P213Q|VEPH1_ENST00000392832.2_Missense_Mutation_p.P213Q NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 213 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GTACTGTTCTGGCTGTTCCAG 0.443000 102 28 5.84261e-33 8.88188e-33 0.014410 1 0 LINGO4 339398 broad.mit.edu 37 1 151774763 151774763 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:151774763G>A ENST00000368820.3 - 2 1355 c.418C>T c.(418-420)Cgc>Tgc p.R140C NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 140 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGGTTGAGGCGGAGGTCCAGC 0.582000 35 69 0 0 0.013726 0 0 TIE1 7075 broad.mit.edu 37 1 43772569 43772569 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:43772569G>C ENST00000372476.3 + 4 622 c.543G>C c.(541-543)caG>caC p.Q181H TIE1_ENST00000441333.2_Missense_Mutation_p.Q181H|TIE1_ENST00000538015.1_Missense_Mutation_p.Q181H NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 181 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCCTGCTGCAGCTCCCAAATG 0.607000 18 46 0 0 0.006122 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242741244 242741244 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:242741244C>T ENST00000192314.6 + 3 299 c.168C>T c.(166-168)ttC>ttT p.F56F AC114730.5_ENST00000437438.1_RNA NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 56 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) ACATCATGTTCCTGAAGACGC 0.662000 18 33 0 0 0.008871 0 0 RECQL 5965 broad.mit.edu 37 12 21629893 21629893 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:21629893T>C ENST00000444129.2 - 8 1369 c.901A>G c.(901-903)Att>Gtt p.I301V RECQL_ENST00000421138.2_Missense_Mutation_p.I301V NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 301 Helicase C-terminal. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 ATATCCTCAATAAAATCTTCA 0.338000 Other identified genes with known or suspected DNA repair function 13 39 0 0 0.004990 0 0 PRRX1 5396 broad.mit.edu 37 1 170633413 170633413 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:170633413C>A ENST00000239461.6 + 1 367 c.54C>A c.(52-54)cgC>cgA p.R18R PRRX1_ENST00000497230.2_Silent_p.R18R|PRRX1_ENST00000367760.3_Silent_p.R18R NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 18 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGGCGGCCGCTTGGACAGCC 0.662000 14 19 6.31663e-08 7.20613e-08 0.024245 1 0 SLIT1 6585 broad.mit.edu 37 10 98770785 98770785 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:98770785G>C ENST00000266058.4 - 31 3551 c.3306C>G c.(3304-3306)gtC>gtG p.V1102V ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.V1102V NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1102 EGF-like 5. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) AGTAGCTGTTGACTTCATCCA 0.592000 6 18 0 0 0.001984 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24880577 24880577 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:24880577C>A ENST00000396432.2 - 23 4524 c.4038G>T c.(4036-4038)gaG>gaT p.E1346D ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E1133D NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1345 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TTACAAGAGGCTCTTCAGCAC 0.393000 33 161 8.73648e-17 1.18461e-16 0.019004 1 0 OR9I1 219954 broad.mit.edu 37 11 57886521 57886521 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:57886521A>G ENST00000302610.1 - 1 395 c.396T>C c.(394-396)taT>taC p.Y132Y OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) TGGCCACGGTATAGAGCAGTG 0.557000 12 38 0 0 0.016723 0 0 REG1P 5969 broad.mit.edu 37 2 79365157 79365157 + RNA SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:79365157G>T ENST00000444841.1 - 0 101 TCTGAGCCATGCTGAGCAGCA 0.478000 7 20 0.000442599 0.000463607 0.006214 1 0 TGM4 7047 broad.mit.edu 37 3 44945437 44945437 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:44945437G>A ENST00000296125.4 + 9 1101 c.1033G>A c.(1033-1035)Ggc>Agc p.G345S NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 345 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GGGCTACGACGGCTGGCAGGC 0.652000 35 46 0 0 0.019004 0 0 TBC1D21 161514 broad.mit.edu 37 15 74178505 74178505 + Silent SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:74178505T>A ENST00000300504.2 + 7 749 c.666T>A c.(664-666)gcT>gcA p.A222A TBC1D21_ENST00000562056.1_Silent_p.A185A|TBC1D21_ENST00000535547.2_Silent_p.A186A NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 222 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 CCGTGTTTGCTGAGCACCTAA 0.592000 15 35 0 0 0.024245 0 0 GTF2I 2969 broad.mit.edu 37 7 74113421 74113421 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:74113421C>G ENST00000324896.4 + 4 758 c.369C>G c.(367-369)tgC>tgG p.C123W GTF2I_ENST00000443166.1_Missense_Mutation_p.C123W|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.C123W|GTF2I_ENST00000346152.4_Missense_Mutation_p.C123W|GTF2I_ENST00000353920.4_Missense_Mutation_p.C123W NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 123 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 TCTGCTTTTGCTATGGTAAAA 0.294000 7 23 0 0 0.003080 0 0 APOB 338 broad.mit.edu 37 2 21231404 21231404 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:21231404T>A ENST00000233242.1 - 26 8463 c.8336A>T c.(8335-8337)aAt>aTt p.N2779I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2779 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGTGGTTCCATTCCCTATGTC 0.398000 40 65 0 0 0.008740 0 0 OR4B1 119765 broad.mit.edu 37 11 48239279 48239279 + Silent SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:48239279A>T ENST00000309562.2 + 1 936 c.918A>T c.(916-918)ccA>ccT p.P306P NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 AGGAGAATCCAGGGAGGGAGT 0.408000 11 31 0 0 0.013537 0 0 KCNIP4 80333 broad.mit.edu 37 4 21305454 21305454 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:21305454C>G ENST00000382150.4 - 1 158 c.76G>C c.(76-78)Ggg>Cgg p.G26R KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382152.2_Intron|KCNIP4_ENST00000509207.1_Intron NM_147183.3 NP_671712.1 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 0 KIS (By similarity). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) TCAATCAGCCCAAACTGTTCC 0.398000 8 37 0 0 0.003080 0 0 PCDH18 54510 broad.mit.edu 37 4 138452706 138452706 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:138452706A>T ENST00000344876.4 - 1 923 c.537T>A c.(535-537)aaT>aaA p.N179K PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.N179K|PCDH18_ENST00000507846.1_5'UTR NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 179 Cadherin 2. 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) TAAAAAAATCATTGGCAGAGA 0.483000 17 40 0 0 0.006122 0 0 CR2 1380 broad.mit.edu 37 1 207649656 207649656 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:207649656G>A ENST00000367057.3 + 15 2983 c.2794G>A c.(2794-2796)Gga>Aga p.G932R CR2_ENST00000458541.2_Missense_Mutation_p.G846R|CR2_ENST00000367059.3_Intron|CR2_ENST00000367058.3_Missense_Mutation_p.G873R NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 873 Sushi 15. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 ATTTTCTCCTGGAATGTCAAT 0.527000 25 76 0 0 0.018920 0 0 C17orf82 388407 broad.mit.edu 37 17 59489603 59489603 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:59489603C>T ENST00000335108.2 + 1 492 c.267C>T c.(265-267)ccC>ccT p.P89P NM_203425.1 NP_982249.1 Q86X59 CQ082_HUMAN chromosome 17 open reading frame 82 89 cervix(1)|lung(1) 2 GGCACCCTCCCGGGAGCGCCT 0.721000 OREG0024630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 7 0 0 0.001984 0 0 DENND4A 10260 broad.mit.edu 37 15 66007893 66007893 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:66007893T>A ENST00000443035.3 - 14 2091 c.1876A>T c.(1876-1878)Att>Ttt p.I626F DENND4A_ENST00000431932.2_Missense_Mutation_p.I626F NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 626 dDENN. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 ATGAAGCGAATAAACATTTGT 0.328000 7 21 0 0 0.001984 0 0 SEMA5A 9037 broad.mit.edu 37 5 9154600 9154600 + Splice_Site SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:9154600C>A ENST00000382496.5 - 12 2146 c.1481_splice c.e12+1 p.S494_splice NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 494 S -> R (in Ref. 2; AAC14668). cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GATGCCCTACCTGCGTGTGCG 0.612000 38 39 3.28013e-08 3.76891e-08 0.021022 1 0 DLGAP1 9229 broad.mit.edu 37 18 3879506 3879506 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:3879506C>G ENST00000315677.3 - 4 1158 c.563G>C c.(562-564)cGc>cCc p.R188P DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R188P|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R188P|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R188P NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 188 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GGGCTCCGCGCGCCGCTCCTT 0.711000 53 258 0 0 0.014410 0 0 TRAV8-2 28684 broad.mit.edu 37 14 22315349 22315349 + RNA SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:22315349C>A ENST00000390434.3 + 0 512 TTCCACCTGACGAAACCCTCA 0.517000 39 59 4.44401e-20 6.18297e-20 0.010771 1 0 ZNF462 58499 broad.mit.edu 37 9 109691071 109691071 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:109691071A>G ENST00000277225.5 + 3 5167 c.4878A>G c.(4876-4878)gaA>gaG p.E1626E ZNF462_ENST00000457913.1_Silent_p.E1626E|ZNF462_ENST00000441147.2_Silent_p.E471E Q96JM2 ZN462_HUMAN zinc finger protein 462 1626 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TGACCACTGAAGTGAGCCCTT 0.557000 23 62 0 0 0.016522 0 0 LRRK2 120892 broad.mit.edu 37 12 40707845 40707845 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:40707845G>C ENST00000298910.7 + 32 4666 c.4608G>C c.(4606-4608)tcG>tcC p.S1536S LRRK2_ENST00000481256.1_3'UTR NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1536 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCATTTTATCGGAGCGTAAAA 0.373000 13 37 0 0 0.013537 0 0 ZNF568 374900 broad.mit.edu 37 19 37488355 37488355 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:37488355G>T ENST00000455427.2 + 9 1899 c.1570G>T c.(1570-1572)Gag>Tag p.E524* NM_001204839.1 NP_001191768.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 611 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCACACTGGGGAGAGACCCCA 0.448000 5 13 0.000602214 0.000627715 0.014758 1 0 METTL22 79091 broad.mit.edu 37 16 8736032 8736032 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:8736032A>G ENST00000381920.3 + 8 1133 c.875A>G c.(874-876)tAc>tGc p.Y292C METTL22_ENST00000561758.1_Missense_Mutation_p.Y236C|METTL22_ENST00000568967.1_3'UTR NM_024109.2 NP_077014.2 Q9BUU2 MET22_HUMAN methyltransferase like 22 292 methyltransferase activity large_intestine(5)|lung(4) 9 TCTGACTTGTACGATCACACC 0.478000 16 59 0 0 0.004990 0 0 CD163 9332 broad.mit.edu 37 12 7640427 7640427 + Silent SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:7640427T>G ENST00000359156.4 - 7 1879 c.1677A>C c.(1675-1677)gtA>gtC p.V559V CD163_ENST00000541972.1_Silent_p.V547V|CD163_ENST00000432237.2_Silent_p.V559V|CD163_ENST00000396620.3_Silent_p.V559V NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 559 SRCR 5. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GGCGGGGTGCTACTGGGCAGA 0.502000 32 58 0 0 0.010818 0 0 OR4M2 390538 broad.mit.edu 37 15 22369024 22369024 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:22369024G>T ENST00000332663.2 + 1 547 c.449G>T c.(448-450)aGg>aTg p.R150M RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R150M(2) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 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) CTCTCCTGGAGGGGGGGCTTC 0.502000 49 313 1.74971e-23 2.52211e-23 0.014410 1 0 CLEC14A 161198 broad.mit.edu 37 14 38724494 38724494 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:38724494G>A ENST00000342213.2 - 1 1080 c.734C>T c.(733-735)cCc>cTc p.P245L NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 245 EGF-like. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CCCGGGGCAGGGACACAACAC 0.617000 46 120 0 0 0.014410 0 0 STAT5B 6777 broad.mit.edu 37 17 40362219 40362219 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:40362219C>A ENST00000293328.3 - 15 2044 c.1876G>T c.(1876-1878)Ggc>Tgc p.G626C NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 626 SH2. 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) ATGGTGATGCCGCCAATTTCT 0.428000 30 51 2.12542e-12 2.69894e-12 0.006320 1 0 TPO 7173 broad.mit.edu 37 2 1457542 1457542 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:1457542C>A ENST00000345913.4 + 6 650 c.559C>A c.(559-561)Cag>Aag p.Q187K TPO_ENST00000346956.3_Missense_Mutation_p.Q187K|TPO_ENST00000349624.3_Missense_Mutation_p.Q187K|TPO_ENST00000329066.4_Missense_Mutation_p.Q187K|TPO_ENST00000382198.1_Missense_Mutation_p.Q187K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.Q187K|TPO_ENST00000337415.3_Missense_Mutation_p.Q187K NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 187 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGGCTTCAGTCAGCCCCGAGG 0.602000 29 60 7.41945e-09 8.64927e-09 0.027356 1 0 PCDHA12 56137 broad.mit.edu 37 5 140256339 140256339 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140256339C>A ENST00000398631.2 + 1 1282 c.1282C>A c.(1282-1284)Cgg>Agg p.R428R PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 p.R428W(1) NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGACTGCGCGGGATGGGGG 0.637000 124 76 1.15969e-64 1.80146e-64 0.014410 1 0 LRP1B 53353 broad.mit.edu 37 2 141208166 141208166 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:141208166C>G ENST00000389484.3 - 63 10999 c.10028G>C c.(10027-10029)gGt>gCt p.G3343A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3343 LDL-receptor class A 21. 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) AGATCCATCACCACAGTCATC 0.348000 TSP Lung(27;0.18) 19 65 0 0 0.007413 0 0 ASIC2 40 broad.mit.edu 37 17 32483062 32483062 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:32483062G>T ENST00000359872.6 - 1 1251 c.490C>A c.(490-492)Ctg>Atg p.L164M NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 164 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) ATATCCTTCAGGTCATGGCCC 0.557000 23 72 1.1804e-14 1.55443e-14 0.021523 1 0 ATP6V1C2 245973 broad.mit.edu 37 2 10923308 10923308 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:10923308G>A ENST00000381661.3 + 13 1174 c.1065G>A c.(1063-1065)gtG>gtA p.V355V ATP6V1C2_ENST00000272238.4_Silent_p.V401V NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 401 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) AGGCATCTGTGGAGATCCCGG 0.443000 20 45 0 0 0.010504 0 0 GPR98 84059 broad.mit.edu 37 5 89986666 89986666 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:89986666G>A ENST00000405460.2 + 31 6855 c.6759G>A c.(6757-6759)aaG>aaA p.K2253K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2253 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACTCAGTGAAGGTAAACCTGC 0.428000 17 10 0 0 0.028581 0 0 DYRK1B 9149 broad.mit.edu 37 19 40317964 40317964 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:40317964C>A ENST00000593685.1 - 8 1524 c.1056G>T c.(1054-1056)ggG>ggT p.G352G DYRK1B_ENST00000430012.2_Silent_p.G352G|DYRK1B_ENST00000323039.5_Silent_p.G352G|DYRK1B_ENST00000348817.3_Silent_p.G352G|DYRK1B_ENST00000597639.1_Silent_p.G352G Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 352 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) TCCAGCCACCCCCAGGCAGCC 0.652000 14 23 6.72482e-11 8.24499e-11 0.024245 1 0 MYO16 23026 broad.mit.edu 37 13 109318423 109318423 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr13:109318423C>A ENST00000356711.2 + 2 278 c.152C>A c.(151-153)gCg>gAg p.A51E MYO16_ENST00000357550.2_Missense_Mutation_p.A51E|MYO16_ENST00000251041.5_Missense_Mutation_p.A51E NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 51 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CTGAAGCATGCGAAGAATCCG 0.483000 12 12 3.07112e-06 3.39467e-06 0.010729 1 0 SRRM4 84530 broad.mit.edu 37 12 119563220 119563220 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:119563220C>A ENST00000267260.4 + 7 938 c.550C>A c.(550-552)Cgc>Agc p.R184S SRRM4_ENST00000537597.1_3'UTR NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 184 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 TCACCGCCACCGCCATCACCG 0.612000 17 27 6.94344e-10 8.27524e-10 0.006122 1 0 CCM2L 140706 broad.mit.edu 37 20 30610545 30610545 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:30610545G>T ENST00000300415.8 + 6 1029 c.1016G>T c.(1015-1017)cGg>cTg p.R339L CCM2L_ENST00000262659.8_Missense_Mutation_p.R339L cerebral cavernous malformation 2-like p.R339Q(2) TGTGTGGACCGGGCTGGCTAC 0.587000 15 46 2.61681e-11 3.24566e-11 0.020292 1 0 PTPRC 5788 broad.mit.edu 37 1 198687375 198687375 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:198687375A>G ENST00000367376.2 + 14 1768 c.1597A>G c.(1597-1599)Aag>Gag p.K533E PTPRC_ENST00000348564.6_Missense_Mutation_p.K374E|PTPRC_ENST00000594404.1_Missense_Mutation_p.K372E|PTPRC_ENST00000442510.2_Missense_Mutation_p.K535E|PTPRC_ENST00000352140.3_Missense_Mutation_p.K485E NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 533 Fibronectin type-III 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TGAGTCGCATAAGAATTGCGA 0.398000 12 22 0 0 0.013537 0 0 LGI4 163175 broad.mit.edu 37 19 35617862 35617862 + Nonsense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:35617862G>A ENST00000392225.3 - 7 1207 c.688C>T c.(688-690)Caa>Taa p.Q230* LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000310123.3_Nonsense_Mutation_p.Q230* Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 230 extracellular region endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) GGCTCCCCTTGGTAGGAGAAG 0.652000 15 43 0 0 0.024245 0 0 HECTD4 283450 broad.mit.edu 37 12 112673511 112673511 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:112673511G>A ENST00000550722.1 - 36 5479 c.5084C>T c.(5083-5085)cCg>cTg p.P1695L HECTD4_ENST00000430131.2_Missense_Mutation_p.P1419L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P1669L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CTTTGGAGACGGGCGTTGGTC 0.562000 11 21 0 0 0.008291 0 0 DGKB 1607 broad.mit.edu 37 7 14722240 14722240 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:14722240G>T ENST00000403951.2 - 12 1392 c.973C>A c.(973-975)Cac>Aac p.H325N DGKB_ENST00000258767.5_Missense_Mutation_p.H325N|DGKB_ENST00000402815.1_Missense_Mutation_p.H325N|DGKB_ENST00000406247.3_Missense_Mutation_p.H325N|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.H318N|DGKB_ENST00000407950.1_Missense_Mutation_p.H318N|DGKB_ENST00000399322.3_Missense_Mutation_p.H325N Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 325 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) ACAGTTTTGTGGCACTTATCA 0.423000 40 93 1.48646e-12 1.89887e-12 0.010771 1 0 PHRF1 57661 broad.mit.edu 37 11 608731 608731 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:608731G>T ENST00000264555.5 + 14 3403 c.3275G>T c.(3274-3276)cGg>cTg p.R1092L PHRF1_ENST00000413872.2_Missense_Mutation_p.R1090L|PHRF1_ENST00000533464.1_Missense_Mutation_p.R1088L|PHRF1_ENST00000416188.2_Missense_Mutation_p.R1091L NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1092 Arg-rich. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 TCCCGGTCGCGGTCGGGGAGC 0.632000 12 19 1.61879e-10 1.95477e-10 0.013537 1 0 C1QL3 389941 broad.mit.edu 37 10 16562732 16562732 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:16562732G>A ENST00000298943.3 - 1 1272 c.333C>T c.(331-333)aaC>aaT p.N111N NM_001010908.1 NP_001010908.1 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 111 Collagen-like. collagen breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CCCCGGCCGCGTTCAggccgg 0.761000 6 48 0 0 0.021553 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563910 228563910 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:228563910A>T ENST00000258403.3 - 3 592 c.521T>A c.(520-522)gTc>gAc p.V174D SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.V170D NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 174 V -> I (in dbSNP:rs59736804). 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) CAAGGATATGACGTTGAGGTA 0.507000 27 85 0 0 0.024334 0 0 ITFG1 81533 broad.mit.edu 37 16 47345160 47345160 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:47345160G>A ENST00000320640.6 - 10 1289 c.1061C>T c.(1060-1062)aCa>aTa p.T354I ITFG1_ENST00000544001.2_Missense_Mutation_p.T241I|ITFG1_ENST00000568047.1_5'UTR|RP11-474B12.1_ENST00000564739.1_RNA NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 354 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) CCTTCCAGATGTGTTCTTTAG 0.353000 15 25 0 0 0.004990 0 0 SPHKAP 80309 broad.mit.edu 37 2 228890142 228890142 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:228890142C>T ENST00000392056.3 - 5 455 c.409G>A c.(409-411)Gga>Aga p.G137R SPHKAP_ENST00000344657.5_Missense_Mutation_p.G137R NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 137 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGGAGATTTCCAGAGGCTAAC 0.378000 19 60 0 0 0.007413 0 0 GPLD1 2822 broad.mit.edu 37 6 24473885 24473885 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:24473885T>A ENST00000230036.1 - 6 562 c.452A>T c.(451-453)cAc>cTc p.H151L GPLD1_ENST00000474784.1_5'UTR NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 151 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 ATAGGAGCCGTGAAAATCAAT 0.393000 22 15 0 0 0.021523 0 0 SYNJ1 8867 broad.mit.edu 37 21 34018775 34018775 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:34018775C>A ENST00000382499.2 - 24 3291 c.3292G>T c.(3292-3294)Ggt>Tgt p.G1098C SYNJ1_ENST00000357345.3_Missense_Mutation_p.G1059C|SYNJ1_ENST00000433931.2_Missense_Mutation_p.G1098C|SYNJ1_ENST00000382491.3_Missense_Mutation_p.G1054C|SYNJ1_ENST00000322229.7_Missense_Mutation_p.G1059C NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1059 Pro-rich. Missing (in Ref. 1; BAA74933). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GGTACAGGACCCTCTGATATT 0.517000 61 99 3.95532e-38 6.07052e-38 0.014410 1 0 TMC3 342125 broad.mit.edu 37 15 81625263 81625263 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:81625263G>T ENST00000558726.1 - 22 2938 c.2803C>A c.(2803-2805)Cgc>Agc p.R935S RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.R934S|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 934 integral to membrane p.R938S(1) autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 GGAGGCTGGCGGGGGACCCGG 0.552000 13 44 9.05144e-12 1.12922e-11 0.016723 1 0 TNS3 64759 broad.mit.edu 37 7 47333420 47333420 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:47333420T>C ENST00000398879.1 - 25 4049 c.3683A>G c.(3682-3684)gAt>gGt p.D1228G TNS3_ENST00000311160.9_Missense_Mutation_p.D1228G|TNS3_ENST00000355730.3_Missense_Mutation_p.D988G Q68CZ2 TENS3_HUMAN tensin 3 1228 SH2. focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 ATTGGCCAAATCTCCAGCTGT 0.438000 28 50 0 0 0.007291 0 0 DNAH7 56171 broad.mit.edu 37 2 196659141 196659141 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:196659141C>T ENST00000312428.6 - 57 10737 c.10637G>A c.(10636-10638)gGt>gAt p.G3546D DNAH7_ENST00000409063.1_Missense_Mutation_p.G29D NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3546 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGCCCGTAAACCTTTTGGTGC 0.443000 35 83 0 0 0.015359 0 0 SEC31B 25956 broad.mit.edu 37 10 102256959 102256959 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:102256959C>A ENST00000370345.3 - 17 2166 c.2069G>T c.(2068-2070)gGg>gTg p.G690V NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 690 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) CTCCACACTCCCTGAGCACAC 0.582000 15 43 7.93312e-07 8.84529e-07 0.020292 1 0 FAM47B 170062 broad.mit.edu 37 X 34962223 34962223 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:34962223G>T ENST00000329357.5 + 1 1311 c.1275G>T c.(1273-1275)ccG>ccT p.P425P NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 425 p.P425P(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GTCTCTGCCCGGAGCCTACCA 0.547000 31 10 3.80469e-20 5.3166e-20 0.009535 1 0 KDR 3791 broad.mit.edu 37 4 55987310 55987310 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:55987310C>T ENST00000263923.4 - 2 410 c.115G>A c.(115-117)Gac>Aac p.D39N NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 39 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.D39Y(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GTAAGTATGTCTTTTTGTATG 0.333000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 16 62 0 0 0.028581 0 0 IL24 11009 broad.mit.edu 37 1 207072725 207072725 + Nonsense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:207072725C>A ENST00000367093.3 + 3 382 c.108C>A c.(106-108)tgC>tgA p.C36* IL24_ENST00000491169.1_Intron|IL24_ENST00000294984.2_Nonsense_Mutation_p.C35*|IL24_ENST00000391929.3_Nonsense_Mutation_p.C36* NM_001185157.1|NM_001185158.1 NP_001172086.1|NP_001172087.1 Q13007 IL24_HUMAN interleukin 24 35 apoptosis extracellular space cytokine activity endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(84;0.201) TGCTCCCTTGCCTGGGTTTTA 0.592000 22 46 1.1804e-14 1.55443e-14 0.021523 1 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657254 72657254 + RNA SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:72657254A>T ENST00000425256.1 - 0 2657 NR_002164.1 ggactagaagactccagcctt 0.498000 26 37 0 0 0.027356 0 0 CUBN 8029 broad.mit.edu 37 10 16916401 16916401 + Missense_Mutation SNP C C A rs144314567 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:16916401C>A ENST00000377833.4 - 58 9273 c.9208G>T c.(9208-9210)Gtt>Ttt p.V3070F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3070 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCGTCACTAACGGTGATGGTA 0.403000 27 156 0.000117367 0.000123952 0.027356 1 0 OR52I2 143502 broad.mit.edu 37 11 4608485 4608485 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:4608485T>C ENST00000312614.4 + 1 465 c.443T>C c.(442-444)aTg>aCg p.M148T NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGCTGACCATGGCTTTTGAC 0.493000 16 70 0 0 0.006122 0 0 OR11L1 391189 broad.mit.edu 37 1 248005080 248005080 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:248005080A>G ENST00000355784.2 - 1 174 c.119T>C c.(118-120)aTa>aCa p.I40T NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AACATTCCCTATAATGGTCAG 0.502000 14 28 0 0 0.016723 0 0 TRAV7 28686 broad.mit.edu 37 14 22251695 22251695 + RNA SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:22251695A>T ENST00000390429.3 + 0 312 CTGAAGATTCAGCCACCTATT 0.453000 10 21 0 0 0.008291 0 0 MCM3AP 8888 broad.mit.edu 37 21 47704507 47704507 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:47704507C>G ENST00000397708.1 - 2 948 c.694G>C c.(694-696)Gag>Cag p.E232Q MCM3AP_ENST00000291688.1_Missense_Mutation_p.E232Q O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 232 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TTCTCTTCCTCTACATTTTGG 0.388000 21 61 0 0 0.010504 0 0 OR10T2 128360 broad.mit.edu 37 1 158369186 158369186 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:158369186A>T ENST00000334438.1 - 1 70 c.71T>A c.(70-72)cTc>cAc p.L24H NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) CAGCAGCTGGAGCTCCCCCAG 0.483000 11 29 0 0 0.010729 0 0 KIF21B 23046 broad.mit.edu 37 1 200954076 200954076 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:200954076G>C ENST00000332129.2 - 27 4030 c.3714C>G c.(3712-3714)ccC>ccG p.P1238P KIF21B_ENST00000461742.2_Silent_p.P1238P|KIF21B_ENST00000422435.2_Silent_p.P1238P|KIF21B_ENST00000360529.5_Silent_p.P1238P 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 1238 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 GGGATGATGGGGGTGTGAATC 0.612000 14 52 0 0 0.020292 0 0 FIGN 55137 broad.mit.edu 37 2 164467533 164467533 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:164467533G>T ENST00000333129.3 - 3 1123 c.809C>A c.(808-810)cCg>cAg p.P270Q FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 270 Pro-rich. nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CGCTGAAGGCGGAGGCGGTGC 0.592000 19 35 7.45023e-12 9.33101e-12 0.010504 1 0 DAAM2 23500 broad.mit.edu 37 6 39864638 39864638 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:39864638A>T ENST00000538976.1 + 20 2574 c.2392A>T c.(2392-2394)Atg>Ttg p.M798L RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.M798L|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.M798L NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 798 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) TCTTAGACAGATGCTAGAGGT 0.622000 18 8 0 0 0.004990 0 0 MAP1B 4131 broad.mit.edu 37 5 71492996 71492996 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:71492996C>A ENST00000296755.7 + 5 4112 c.3814C>A c.(3814-3816)Ctg>Atg p.L1272M NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1272 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAAGACCCCCCTGGGTGAACG 0.517000 51 23 3.86236e-30 5.81626e-30 0.014410 1 0 RIMS2 9699 broad.mit.edu 37 8 104922385 104922385 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:104922385G>C ENST00000507740.1 + 3 1308 c.1072G>C c.(1072-1074)Gat>Cat p.D358H RIMS2_ENST00000406091.3_Missense_Mutation_p.D550H|RIMS2_ENST00000436393.2_Missense_Mutation_p.D328H|RIMS2_ENST00000262231.10_Intron NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 617 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAACTGGTTGGATCATACGTC 0.393000 HNSCC(12;0.0054) 32 91 0 0 0.012213 0 0 CUL9 23113 broad.mit.edu 37 6 43170895 43170895 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:43170895A>G ENST00000252050.4 + 18 3886 c.3802A>G c.(3802-3804)Aac>Gac p.N1268D CUL9_ENST00000354495.3_Missense_Mutation_p.N1158D|CUL9_ENST00000372647.2_Missense_Mutation_p.N1268D NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1268 DOC. N -> S (in Ref. 3; CAH18328). ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GGAGAACCTGAACCGCTTCTG 0.577000 23 28 0 0 0.021523 0 0 OR10G4 390264 broad.mit.edu 37 11 123886995 123886995 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:123886995G>T ENST00000320891.4 + 1 714 c.714G>T c.(712-714)caG>caT p.Q238H NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GAGCCTTTCAGACCTGTGCCT 0.542000 22 57 1.50039e-11 1.86456e-11 0.012319 1 0 SLC35E2 9906 broad.mit.edu 37 1 1670363 1670363 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:1670363C>T ENST00000355439.2 - 4 1216 c.456G>A c.(454-456)atG>atA p.M152I SLC35E2_ENST00000246421.4_Missense_Mutation_p.M152I|SLC35E2_ENST00000400924.1_Missense_Mutation_p.M152I NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 152 integral to membrane endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TTCTTTACCTCATCAGACCCA 0.473000 8 28 0 0 0.010729 0 0 PTPRH 5794 broad.mit.edu 37 19 55707974 55707974 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:55707974G>A ENST00000376350.3 - 10 2195 c.2173C>T c.(2173-2175)Cgg>Tgg p.R725W PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.R547W NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 725 Fibronectin type-III 8. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GGGTAGGACCGAGCCGGCCCG 0.632000 29 44 0 0 0.007291 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899252 112899252 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:112899252G>T ENST00000374530.3 + 8 1608 c.1428G>T c.(1426-1428)ccG>ccT p.P476P AKAP2_ENST00000510514.5_Silent_p.P476P|PALM2-AKAP2_ENST00000302798.7_Silent_p.P476P|AKAP2_ENST00000259318.7_Silent_p.P245P|AKAP2_ENST00000434623.2_Silent_p.P334P|AKAP2_ENST00000555236.1_Silent_p.P476P|AKAP2_ENST00000374525.1_Silent_p.P334P NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 245 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GGAATCCCCCGCAGGAAAAAA 0.542000 18 42 5.3912e-06 5.87797e-06 0.006122 1 0 PDGFRA 5156 broad.mit.edu 37 4 55156559 55156559 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:55156559C>A ENST00000257290.5 + 22 3291 c.2960C>A c.(2959-2961)gCa>gAa p.A987E FIP1L1_ENST00000507166.1_Missense_Mutation_p.A747E NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 987 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TCAGACAATGCATACATTGGT 0.468000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 28 82 2.12542e-12 2.69894e-12 0.006320 1 0 GPATCH8 23131 broad.mit.edu 37 17 42475961 42475961 + Nonsense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:42475961C>A ENST00000434000.1 - 9 3532 c.3250G>T c.(3250-3252)Gaa>Taa p.E1084* GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.E1162* Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1162 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CCAGACTCTTCACACTTCTTA 0.542000 50 121 1.32667e-27 1.97e-27 0.014410 1 0 BCORL1 63035 broad.mit.edu 37 X 129184758 129184758 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:129184758G>T ENST00000540052.1 + 10 4729 c.4685G>T c.(4684-4686)aGt>aTt p.S1562I BCORL1_ENST00000218147.7_Missense_Mutation_p.S1562I|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1432I|BCORL1_ENST00000303743.5_Missense_Mutation_p.S1636I NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1562 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TTTTACAGCAGTTCTGTGTTG 0.502000 61 39 8.33888e-18 1.14525e-17 0.014410 1 0 PXDN 7837 broad.mit.edu 37 2 1684055 1684055 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:1684055C>G ENST00000252804.4 - 7 690 c.640G>C c.(640-642)Ggg>Cgg p.G214R NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 214 LRRCT. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGCGCGTTCCCCGACTCCGCG 0.582000 11 24 0 0 0.010729 0 0 KCND2 3751 broad.mit.edu 37 7 119915355 119915355 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:119915355G>T ENST00000331113.4 + 1 1634 c.669G>T c.(667-669)gaG>gaT p.E223D NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 223 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) CCTGTGGAGAGCGGTATGCTG 0.542000 27 39 7.41945e-09 8.64927e-09 0.027356 1 0 HCN1 348980 broad.mit.edu 37 5 45396681 45396681 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:45396681G>T ENST00000303230.4 - 4 1200 c.1143C>A c.(1141-1143)gtC>gtA p.V381V NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 381 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGGTGGCCCCGACGATCATGC 0.507000 18 75 5.03518e-11 6.20909e-11 0.007413 1 0 MUC16 94025 broad.mit.edu 37 19 9075389 9075389 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:9075389G>A ENST00000397910.4 - 3 12260 c.12057C>T c.(12055-12057)gaC>gaT p.D4019D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4021 Ser-rich.|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 AAGGGCTGACGTCCCTCAGTT 0.473000 27 56 0 0 0.024334 0 0 SLC14A1 6563 broad.mit.edu 37 18 43316445 43316445 + Silent SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:43316445T>C ENST00000321925.4 + 6 727 c.495T>C c.(493-495)aaT>aaC p.N165N SLC14A1_ENST00000591943.1_Intron|RP11-116O18.3_ENST00000586213.1_RNA|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000402943.2_Silent_p.N60N|SLC14A1_ENST00000415427.3_Silent_p.N221N|SLC14A1_ENST00000535474.1_Silent_p.N33N|SLC14A1_ENST00000502059.2_Silent_p.N57N|SLC14A1_ENST00000586142.1_Silent_p.N165N|SLC14A1_ENST00000589700.1_Silent_p.N165N|SLC14A1_ENST00000436407.3_Silent_p.N221N NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 165 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 GTGCATTGAATTCCATGCTCA 0.458000 34 114 0 0 0.023175 0 0 SLC12A4 6560 broad.mit.edu 37 16 67981323 67981323 + Nonsense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:67981323C>T ENST00000422611.2 - 15 2028 c.1989G>A c.(1987-1989)tgG>tgA p.W663* SLC12A4_ENST00000338335.3_Nonsense_Mutation_p.W661*|SLC12A4_ENST00000537830.2_Nonsense_Mutation_p.W655*|SLC12A4_ENST00000576616.1_Nonsense_Mutation_p.W661*|SLC12A4_ENST00000541864.2_Nonsense_Mutation_p.W630*|SLC12A4_ENST00000572037.1_Nonsense_Mutation_p.W613*|SLC12A4_ENST00000316341.3_Nonsense_Mutation_p.W661* NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 661 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCCCGTCACCCCACTCCTTCT 0.667000 5 10 0 0 0.021553 0 0 OR4N4 283694 broad.mit.edu 37 15 22383416 22383416 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:22383416G>T ENST00000328795.4 + 1 1035 c.944G>T c.(943-945)aGa>aTa p.R315I RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 315 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) TTTATAATAAGAAACTGAGAA 0.388000 11 21 6.40141e-05 6.7942e-05 0.010729 1 0 TAS2R60 338398 broad.mit.edu 37 7 143141256 143141256 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:143141256C>A ENST00000332690.1 + 1 711 c.711C>A c.(709-711)ccC>ccA p.P237P EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 237 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity p.P237P(2) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TCCGAGAGCCCAGTGTGCAGG 0.483000 38 69 2.09667e-21 2.96873e-21 0.017118 1 0 UNC5D 137970 broad.mit.edu 37 8 35406851 35406851 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:35406851G>C ENST00000287272.2 + 2 165 c.145G>C c.(145-147)Gct>Cct p.A49P UNC5D_ENST00000416672.1_Missense_Mutation_p.A49P|UNC5D_ENST00000453357.2_Missense_Mutation_p.A44P|UNC5D_ENST00000404895.2_Missense_Mutation_p.A49P|UNC5D_ENST00000420357.1_Missense_Mutation_p.A49P Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 49 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CATCCCATCAGCTCCTGGGAC 0.483000 13 40 0 0 0.016723 0 0 SNX27 81609 broad.mit.edu 37 1 151611499 151611499 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:151611499G>T ENST00000368843.3 + 2 567 c.447G>T c.(445-447)tcG>tcT p.S149S SNX27_ENST00000458013.2_Silent_p.S149S|SNX27_ENST00000368838.1_Silent_p.S56S NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 149 cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GTGACGACTCGTTGGGACAAT 0.468000 25 53 1.64293e-13 2.11565e-13 0.018920 1 0 CUL3 8452 broad.mit.edu 37 2 225371641 225371641 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:225371641C>G ENST00000264414.4 - 7 1301 c.963G>C c.(961-963)ttG>ttC p.L321F CUL3_ENST00000344951.4_Missense_Mutation_p.L255F|CUL3_ENST00000409777.1_Missense_Mutation_p.L297F|CUL3_ENST00000409096.1_Missense_Mutation_p.L297F NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 321 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding p.L321F(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) CTTGCTCCCTCAAATAGGAAC 0.378000 26 36 0 0 0.006320 0 0 INSC 387755 broad.mit.edu 37 11 15260566 15260566 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:15260566C>A ENST00000379554.3 + 11 1526 c.1480C>A c.(1480-1482)Ctg>Atg p.L494M INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.L405M|INSC_ENST00000530161.1_Missense_Mutation_p.L447M|INSC_ENST00000525218.1_Missense_Mutation_p.L405M|INSC_ENST00000379556.3_Missense_Mutation_p.L447M|INSC_ENST00000528567.1_Missense_Mutation_p.L447M NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 494 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 TGCAGTGACCCTGGCTCGTCT 0.602000 16 26 1.15088e-07 1.30135e-07 0.028581 1 0 LRP1B 53353 broad.mit.edu 37 2 141108566 141108566 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:141108566T>A ENST00000389484.3 - 77 12663 c.11692A>T c.(11692-11694)Atc>Ttc p.I3898F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3898 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) AAACCCAGGATATCAGTGTCA 0.294000 TSP Lung(27;0.18) 35 91 0 0 0.021022 0 0 CCDC155 147872 broad.mit.edu 37 19 49902726 49902726 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:49902726C>G ENST00000447857.3 + 9 965 c.760C>G c.(760-762)Cag>Gag p.Q254E NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 254 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 AAAGGAGCAGCAGCATCTGGT 0.572000 7 9 0 0 0.001984 0 0 FBN2 2201 broad.mit.edu 37 5 127595187 127595187 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:127595187C>A ENST00000508053.1 - 71 9673 c.8699G>T c.(8698-8700)gGg>gTg p.G2900V FBN2_ENST00000262464.4_Missense_Mutation_p.G2900V P35556 FBN2_HUMAN fibrillin 2 2900 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GAGAGCCTCCCCAAGCTCCCC 0.493000 62 44 9.53978e-28 1.41987e-27 0.014410 1 0 AARD 441376 broad.mit.edu 37 8 117954796 117954796 + Splice_Site SNP G G A rs77850379 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:117954796G>A ENST00000378279.3 + 2 369 c.e2-1 AARD_ENST00000523536.1_Splice_Site NM_001025357.2 NP_001020528.1 Q4LEZ3 AARD_HUMAN alanine and arginine rich domain containing protein CTAACTTTTAGGTGGAAATGC 0.343000 8 16 0 0 0.003080 0 0 ZFHX3 463 broad.mit.edu 37 16 72821667 72821667 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:72821667T>A ENST00000268489.5 - 10 11180 c.10508A>T c.(10507-10509)cAc>cTc p.H3503L ZFHX3_ENST00000397992.5_Missense_Mutation_p.H2589L|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3503 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gGTGGGGACGTGAAGCACCAT 0.731000 13 29 0 0 0.013537 0 0 TRAV26-2 28656 broad.mit.edu 37 14 22671053 22671053 + RNA SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:22671053A>T ENST00000390460.1 + 0 118 CTTGCCTTGTAACCACTCCAC 0.448000 17 38 0 0 0.028581 0 0 ZNF592 9640 broad.mit.edu 37 15 85326315 85326315 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:85326315A>C ENST00000299927.3 + 1 431 c.409A>C c.(409-411)Acc>Ccc p.T137P ZNF592_ENST00000560079.2_Missense_Mutation_p.T137P Q92610 ZN592_HUMAN zinc finger protein 592 137 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCATTACCCACCTTCAACCA 0.478000 49 91 0 0 0.014410 0 0 IQCD 115811 broad.mit.edu 37 12 113645397 113645397 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:113645397C>T ENST00000546692.1 - 2 948 c.575G>A c.(574-576)gGt>gAt p.G192D IQCD_ENST00000299732.2_Missense_Mutation_p.G192D|IQCD_ENST00000416617.2_Missense_Mutation_p.G192D Q96DY2 IQCD_HUMAN IQ motif containing D 192 endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 AAACAGGAAACCACGGAGCTC 0.473000 22 66 0 0 0.010504 0 0 SUSD2 56241 broad.mit.edu 37 22 24584279 24584279 + Missense_Mutation SNP C C A rs150371467 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:24584279C>A ENST00000358321.3 + 14 2689 c.2428C>A c.(2428-2430)Cgc>Agc p.R810S NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 810 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 GCTGCTGCGCCGCAGGAAGGG 0.657000 8 20 0.00621372 0.00637304 0.006214 1 0 PRPF8 10594 broad.mit.edu 37 17 1576801 1576801 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:1576801C>A ENST00000572621.1 - 22 3772 c.3507G>T c.(3505-3507)caG>caT p.Q1169H PRPF8_ENST00000304992.6_Missense_Mutation_p.Q1169H Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1169 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGTTCTCCCACTGAACTGTAG 0.547000 29 57 2.4375e-19 3.38395e-19 0.007291 1 0 LINC00477 144360 broad.mit.edu 37 12 24736660 24736660 + RNA SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:24736660G>T ENST00000483544.1 - 0 442 NR_029451.2 GGGGAAGGAGGGTGAGGAACA 0.582000 31 87 3.03874e-20 4.2649e-20 0.015359 1 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229092 90229092 + RNA SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:90229092C>A ENST00000390278.2 + 0 48 CGCTCAGCTCCTGGGGCTCCT 0.552000 44 25 5.57489e-27 8.2591e-27 0.014410 1 0 SEPHS2 22928 broad.mit.edu 37 16 30456594 30456594 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:30456594C>A ENST00000478753.2 - 1 908 c.455G>T c.(454-456)cGc>cTc p.R152L SEPHS2_ENST00000500504.2_Missense_Mutation_p.R152L|SEPHS2_ENST00000542752.1_Missense_Mutation_p.R95L Q99611 SPS2_HUMAN selenophosphate synthetase 2 152 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 ACAAGCTATGCGCCCCATCAT 0.547000 23 46 5.35047e-06 5.85351e-06 0.018920 1 0 FAM53B 9679 broad.mit.edu 37 10 126370314 126370314 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:126370314C>A ENST00000337318.3 - 4 979 c.768G>T c.(766-768)ctG>ctT p.L256L FAM53B_ENST00000392754.3_Silent_p.L256L|FAM53B_ENST00000280780.6_Silent_p.L256L|RP11-12J10.3_ENST00000494792.1_3'UTR NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 256 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) AGCGTCTCGCCAGCTCTGGTG 0.587000 4 13 3.59834e-05 3.83823e-05 0.021553 1 0 RHO 6010 broad.mit.edu 37 3 129249874 129249874 + Missense_Mutation SNP G G C rs139731264 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:129249874G>C ENST00000296271.3 + 2 611 c.517G>C c.(517-519)Gcc>Ccc p.A173P NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 173 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) ACCCCCACTCGCCGGCTGGTC 0.612000 15 36 0 0 0.028581 0 0 DMD 1756 broad.mit.edu 37 X 32459328 32459328 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:32459328C>G ENST00000357033.4 - 28 4096 c.3890G>C c.(3889-3891)gGc>gCc p.G1297A DMD_ENST00000378677.2_Missense_Mutation_p.G1293A NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1297 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTCAGCTCCGCCAGGAATGTT 0.358000 31 21 0 0 0.007291 0 0 ZNF512B 57473 broad.mit.edu 37 20 62597874 62597874 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:62597874G>A ENST00000450537.1 - 5 714 c.654C>T c.(652-654)gtC>gtT p.V218V ZNF512B_ENST00000217130.3_Silent_p.V218V|ZNF512B_ENST00000369888.1_Silent_p.V218V Q96KM6 Z512B_HUMAN zinc finger protein 512B 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TGGGTCTGCCGACCGAGACTG 0.597000 65 165 0 0 0.014410 0 0 NHS 4810 broad.mit.edu 37 X 17739579 17739579 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:17739579G>T ENST00000380060.3 + 4 1209 c.871G>T c.(871-873)Gaa>Taa p.E291* NHS_ENST00000398097.3_Nonsense_Mutation_p.E135*|NHS_ENST00000485305.1_3'UTR NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 291 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CCCAGAGGATGAAGATACAGA 0.433000 25 13 4.59853e-10 5.49078e-10 0.027356 1 0 HCN1 348980 broad.mit.edu 37 5 45262356 45262356 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:45262356G>C ENST00000303230.4 - 8 2397 c.2340C>G c.(2338-2340)acC>acG p.T780T NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 780 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGACTTCCCGGGTCAGGTTGG 0.632000 22 61 0 0 0.016522 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26431630 26431630 + RNA SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:26431630C>A ENST00000466808.2 + 0 1578 GCAGCCACTGCACAATGCCTC 0.587000 58 64 3.31993e-32 5.03496e-32 0.014410 1 0 PLEKHH3 79990 broad.mit.edu 37 17 40822701 40822701 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:40822701A>T ENST00000293349.6 - 10 1865 c.1435T>A c.(1435-1437)Ttg>Atg p.L479M PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.L479M|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.L482M Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 482 FERM. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GAGTCCTCCAACCCAGCTTCC 0.672000 17 19 0 0 0.006122 0 0 CCDC129 223075 broad.mit.edu 37 7 31683113 31683113 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:31683113C>T ENST00000319386.3 + 11 2678 c.1685C>T c.(1684-1686)aCc>aTc p.T562I CCDC129_ENST00000409210.1_Missense_Mutation_p.T618I|CCDC129_ENST00000451887.2_Missense_Mutation_p.T736I|CCDC129_ENST00000407970.3_Missense_Mutation_p.T710I Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 710 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TCTGTAATGACCCAGATGTCC 0.522000 25 45 0 0 0.016522 0 0 TRIM68 55128 broad.mit.edu 37 11 4621844 4621844 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:4621844C>G ENST00000300747.5 - 7 1409 c.1120G>C c.(1120-1122)Gta>Cta p.V374L NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 374 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TGCTTACATACTCCCAGGCCC 0.537000 18 29 0 0 0.007413 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16834669 16834669 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:16834669C>A ENST00000355661.3 - 13 2008 c.1998G>T c.(1996-1998)ctG>ctT p.L666L PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.L666L|PLEKHA7_ENST00000448080.2_Silent_p.L666L Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 666 Interaction with CTNND1. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CCTTTAGATCCAGGTACTCCA 0.468000 15 34 7.93312e-07 8.84529e-07 0.020292 1 0 EYA1 2138 broad.mit.edu 37 8 72182001 72182001 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:72182001C>A ENST00000340726.3 - 11 1663 c.1024G>T c.(1024-1026)Ggg>Tgg p.G342W EYA1_ENST00000388741.2_Missense_Mutation_p.G308W|EYA1_ENST00000419131.1_Missense_Mutation_p.G337W|EYA1_ENST00000388743.2_Missense_Mutation_p.G341W|EYA1_ENST00000303824.7_Missense_Mutation_p.G336W|EYA1_ENST00000388740.3_Missense_Mutation_p.G309W|EYA1_ENST00000388742.4_Missense_Mutation_p.G342W NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 342 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GCGTAGGACCCAGTAAGCAAG 0.398000 33 91 6.29468e-14 8.18821e-14 0.021022 1 0 DNHD1 144132 broad.mit.edu 37 11 6588904 6588904 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:6588904C>T ENST00000254579.6 + 36 12729 c.12165C>T c.(12163-12165)gcC>gcT p.A4055A DNHD1_ENST00000527990.2_Silent_p.A4055A NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4055 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TGGCAGGTGCCCTGGCAGACT 0.617000 16 38 0 0 0.024245 0 0 UBB 7314 broad.mit.edu 37 17 16285753 16285753 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:16285753G>A ENST00000302182.3 + 2 924 c.532G>A c.(532-534)Gtg>Atg p.V178M RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Missense_Mutation_p.V178M|UBB_ENST00000395839.1_Missense_Mutation_p.V178M|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Missense_Mutation_p.V102M NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 178 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) CATCGAAAATGTGAAGGCCAA 0.552000 21 47 0 0 0.010504 0 0 KIF21A 55605 broad.mit.edu 37 12 39720119 39720119 + Silent SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:39720119T>C ENST00000395670.3 - 24 3767 c.3348A>G c.(3346-3348)gtA>gtG p.V1116V KIF21A_ENST00000541463.2_Silent_p.V1080V|KIF21A_ENST00000361418.5_Silent_p.V1116V|KIF21A_ENST00000544797.2_Silent_p.V1096V|KIF21A_ENST00000361961.3_Silent_p.V1103V Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1116 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TACTATCCTCTACATTTTCTA 0.358000 11 35 0 0 0.010729 0 0 GUCY2C 2984 broad.mit.edu 37 12 14766128 14766128 + Missense_Mutation SNP G G A rs140551603 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:14766128G>A ENST00000261170.3 - 27 3281 c.3145C>T c.(3145-3147)Cgg>Tgg p.R1049W RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 1049 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CTGGCTACCCGTCTGGGTTTT 0.433000 74 158 0 0 0.014410 0 0 TAF4 6874 broad.mit.edu 37 20 60581806 60581806 + Silent SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:60581806T>C ENST00000252996.3 - 7 1982 c.1983A>G c.(1981-1983)ttA>ttG p.L661L TAF4_ENST00000488539.1_5'UTR NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 661 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TCAAGGCGGGTAAGCTCCTCT 0.587000 16 27 0 0 0.004990 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65208417 65208417 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:65208417G>C ENST00000247226.7 + 14 2322 c.2014G>C c.(2014-2016)Gaa>Caa p.E672Q PLEKHG3_ENST00000492928.1_3'UTR|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.E233Q|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.E261Q|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.E728Q NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 728 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TGAAAATGCAGAACACCATGA 0.527000 22 84 0 0 0.016522 0 0 DNAH9 1770 broad.mit.edu 37 17 11757566 11757566 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:11757566C>A ENST00000262442.3 + 50 9822 c.9754C>A c.(9754-9756)Cct>Act p.P3252T DNAH9_ENST00000454412.2_Missense_Mutation_p.P3252T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3252 Stalk (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) CGAGTTCAATCCTGAGTTTGT 0.488000 40 106 1.69901e-12 2.16607e-12 0.023175 1 0 CNKSR1 10256 broad.mit.edu 37 1 26510929 26510929 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:26510929C>T ENST00000531191.1 + 11 1271 c.264C>T c.(262-264)ccC>ccT p.P88P CNKSR1_ENST00000374253.5_Silent_p.P353P|CNKSR1_ENST00000361530.6_Silent_p.P346P Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 353 CRIC. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) TGCCCATCCCCCCGGAACCCC 0.637000 13 17 0 0 0.013537 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237225 140237225 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140237225A>T ENST00000307360.5 + 1 1592 c.1592A>T c.(1591-1593)cAg>cTg p.Q531L PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.Q531L|PCDHA7_ENST00000525929.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTGCTACAGTTCCAGGTG 0.677000 80 49 0 0 0.014410 0 0 DNHD1 144132 broad.mit.edu 37 11 6589744 6589744 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:6589744C>G ENST00000254579.6 + 38 13163 c.12599C>G c.(12598-12600)aCt>aGt p.T4200S DNHD1_ENST00000527990.2_Missense_Mutation_p.T4200S NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4200 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) AATGTAAGCACTGTTCACAGA 0.463000 24 48 0 0 0.016522 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890799 23890799 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:23890799G>T ENST00000532292.1 - 1 376 c.282C>A c.(280-282)ccC>ccA p.P94P NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CCGGGGGTCCGGGCTGGGCCT 0.652000 3 8 0.004672 0.00479949 0.004672 1 0 OR5M8 219484 broad.mit.edu 37 11 56258161 56258161 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:56258161G>T ENST00000327216.2 - 1 710 c.686C>A c.(685-687)tCt>tAt p.S229Y NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) GCCCTCTGTAGAGCGAATCTT 0.413000 17 34 4.14922e-12 5.23767e-12 0.028581 1 0 DUSP18 150290 broad.mit.edu 37 22 31059931 31059931 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:31059931G>C ENST00000403268.1 - 2 530 c.60C>G c.(58-60)ctC>ctG p.L20L DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Silent_p.L20L|DUSP18_ENST00000334679.3_Silent_p.L20L|DUSP18_ENST00000404885.1_Silent_p.L20L Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 20 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1)|prostate(1)|skin(1) 4 TTATCTGCGAGAGGCCGCTGA 0.552000 15 40 0 0 0.024245 0 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 76_84 c.69_77delCCTGCCGCT c.(67-78)ctg>ct p.LLPL23del NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 4 5 --- --- --- --- ROBO2 6092 broad.mit.edu 37 3 77651571 77651571 + Frame_Shift_Del DEL G G - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:77651571delG ENST00000461745.1 + 20 3965 c.3065delG c.(3064-3066)acfs p.S1023fs ROBO2_ENST00000487694.3_Frame_Shift_Del_p.S1039fs|ROBO2_ENST00000332191.8_Frame_Shift_Del_p.S1023fs NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1023 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CAATGGAAAAGCTCAATTCAG 0.443 23 17 --- --- --- --- SLCO2A1 6578 broad.mit.edu 37 3 133657272 133657272 + Splice_Site DEL C C - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:133657272delC ENST00000310926.4 - 12 1964 c.e12+1 SLCO2A1_ENST00000493729.1_Splice_Site NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 TAGACACTTACCCAGCAAGCG 0.537 103 66 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 7 167 --- --- --- --- CCDC39 339829 broad.mit.edu 37 3 180372672 180372672 + Frame_Shift_Del DEL C C - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:180372672delC ENST00000273654.4 - 13 1679 c.1060delG c.(1060-1062)aafs p.E354fs CCDC39_ENST00000442201.2_Frame_Shift_Del_p.E270fs Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 270 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATCTCACTTTCCAAAAACTTG 0.318 59 22 --- --- --- --- CDC20B 166979 broad.mit.edu 37 5 54442506 54442509 + Frame_Shift_Del DEL GCTT GCTT - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:54442506_54442509delGCTT ENST00000334206.5 - 3 478_481 c.302_305delAAGC c.(301-306)gtfs p.EA101fs CDC20B_ENST00000381375.2_Frame_Shift_Del_p.EA101fs|CDC20B_ENST00000296733.1_Frame_Shift_Del_p.EA101fs|CDC20B_ENST00000322374.6_Frame_Shift_Del_p.EA101fs|CDC20B_ENST00000331730.3_Frame_Shift_Del_p.EA80fs Q86Y33 CD20B_HUMAN cell division cycle 20B 101 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TGATCCGGAAGCTTCTGGGAGGTA 0.529 OREG0016610 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 60 --- --- --- --- PCDHB3 56132 broad.mit.edu 37 5 140480891 140480891 + Frame_Shift_Del DEL C C - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140480891delC ENST00000231130.2 + 1 658 c.658delC c.(658-660)ccfs p.P221fs AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 221 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCGGCTCTCCCCCTCGGTC 0.552 44 30 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 2820892 2820894 + In_Frame_Del DEL CGG CGG - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:2820892_2820894delCGG ENST00000602557.1 - 61 9862_9864 c.9307_9309delCCG c.(9307-9309)del p.P3103del CSMD1_ENST00000520002.1_In_Frame_Del_p.P3103del|CSMD1_ENST00000542608.1_In_Frame_Del_p.P2925del|CSMD1_ENST00000400186.3_In_Frame_Del_p.P2926del|CSMD1_ENST00000537824.1_In_Frame_Del_p.P3102del|CSMD1_ENST00000602723.1_In_Frame_Del_p.P2926del Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3103 Sushi 25. 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) CATTCTGCACCGGCGGCGGCTGA 0.537 39 177 --- --- --- --- INTS10 55174 broad.mit.edu 37 8 19681415 19681415 + Frame_Shift_Del DEL T T - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:19681415delT ENST00000397977.3 + 7 1094 c.696delT c.(694-696)ccfs p.P232fs NM_018142.2 NP_060612.2 Q9NVR2 INT10_HUMAN integrator complex subunit 10 232 snRNA processing integrator complex protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 20 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) TAATGTCACCTAGCAAACGTA 0.403 29 53 --- --- --- --- TUBBP1 92755 broad.mit.edu 37 8 30210561 30210562 + RNA INS - - A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:30210561_30210562insA ENST00000518096.1 + 0 1173_1174 AATGGATCCCCAACAATATCAA 0.525 36 84 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55533949 55533950 + Frame_Shift_Ins INS - - G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:55533949_55533950insG ENST00000220676.1 + 2 571_572 c.423_424insG c.(421-426)cctagcfs p.S142fs NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 142 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.V142I(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CGCCCCACCCCGTAGCCGTCGC 0.698 25 64 --- --- --- --- ADAMTS13 11093 broad.mit.edu 37 9 136302011 136302011 + Frame_Shift_Del DEL G G - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:136302011delG ENST00000371929.3 + 12 1815 c.1371delG c.(1369-1371)ccfs p.P457fs ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Frame_Shift_Del_p.P426fs|ADAMTS13_ENST00000355699.2_Frame_Shift_Del_p.P457fs|ADAMTS13_ENST00000536611.1_Frame_Shift_Del_p.P129fs|ADAMTS13_ENST00000485925.1_Intron NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 457 P -> L (in dbSNP:rs36220240). cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ACGGCCAGCCGCTGCGCTCCT 0.697 5 7 --- --- --- --- TAS2R8 50836 broad.mit.edu 37 12 10959383 10959383 + Frame_Shift_Del DEL C C - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:10959383delC ENST00000240615.2 - 1 509 c.197delG c.(196-198)gcfs p.G66fs NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 66 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TATTACAATGCCATTTACAAC 0.318 31 72 --- --- --- --- PKP2 5318 broad.mit.edu 37 12 32975546 32975547 + Frame_Shift_Del DEL CA CA - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:32975546_32975547delCA ENST00000340811.4 - 8 1801_1802 c.1693_1694delTG c.(1693-1695)cfs p.C565fs PKP2_ENST00000070846.6_Frame_Shift_Del_p.C609fs NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 609 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ATGAAGAATGCACACACAATTC 0.426 22 58 --- --- --- --- CCDC144B 284047 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 4 6 --- --- --- --- UNC45B 146862 broad.mit.edu 37 17 33497240 33497241 + Frame_Shift_Ins INS - - C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:33497240_33497241insC ENST00000268876.5 + 12 1752_1753 c.1655_1656insC c.(1654-1656)gccfs p.A552fs UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000433649.1_Frame_Shift_Ins_p.A552fs|UNC45B_ENST00000394570.2_Frame_Shift_Ins_p.A552fs|UNC45B_ENST00000378449.1_Intron NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 552 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GTCCAGGACGTCCCTGCCCTGC 0.619 15 30 --- --- --- --- FLRT3 23767 broad.mit.edu 37 20 14306693 14306694 + Frame_Shift_Ins INS - - T rs144984452 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:14306693_14306694insT ENST00000378053.3 - 2 1715_1716 c.1459_1460insA c.(1459-1461)ctafs p.L487fs MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Frame_Shift_Ins_p.L487fs|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 487 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) AAATAGGTAGAGGTTGCTGGTT 0.455 26 89 --- --- --- --- PCNT 5116 broad.mit.edu 37 21 47821563 47821563 + Frame_Shift_Del DEL G G - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:47821563delG ENST00000359568.5 + 26 4997 c.4890delG c.(4888-4890)tcfs p.S1630fs PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1630 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGCCTCCTTCGGGCAGCCCTC 0.562 39 70 --- --- --- --- OR11H1 81061 broad.mit.edu 37 22 16449523 16449523 + Frame_Shift_Del DEL G G - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:16449523delG ENST00000252835.4 - 1 282 c.282delC c.(280-282)ccfs p.P94fs NM_001005239.1 NP_001005239.1 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1) 11 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) CCAACATCTTGGGAACTGTAG 0.408 8 57 --- --- --- --- KIAA2022 340533 broad.mit.edu 37 X 73962264 73962265 + Frame_Shift_Ins INS - - A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:73962264_73962265insA ENST00000373468.1 - 3 2778_2779 c.2127_2128insT c.(2125-2130)ttagggfs p.LG709fs KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.LG709fs Q5QGS0 K2022_HUMAN KIAA2022 709 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCTGGCCCCTTAAACTCTGTGT 0.431 39 26 --- --- --- ---