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 TNN 63923 broad.mit.edu 37 1 175046756 175046756 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:175046756G>A ENST00000239462.4 + 2 315 c.202G>A c.(202-204)Gat>Aat p.D68N NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 68 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) CCTCAGTGACGATGGGGCTTC 0.577000 19 46 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179616450 179616450 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:179616450G>A ENST00000360870.5 - 46 10899 c.10677C>T c.(10675-10677)caC>caT p.H3559H TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3558 Ig-like 21. 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) AAGAGTGATGGTGTAAATCAC 0.413000 4 20 0 0 1 0 0 FCGR3A 2214 broad.mit.edu 37 1 161514743 161514743 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:161514743G>A ENST00000367969.3 - 4 616 c.433C>T c.(433-435)Ctg>Ttg p.L145L FCGR3A_ENST00000443193.1_Silent_p.L144L|FCGR3A_ENST00000436743.1_Silent_p.L109L|FCGR3A_ENST00000540048.1_Silent_p.L109L NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 109 Ig-like C2-type 2. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 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) TGGAGCAACAGCCAGCCTGAA 0.562000 7 17 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93691 93691 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr10:93691G>A ENST00000447903.2 - 4 740 c.425C>T c.(424-426)aCc>aTc p.T142I TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.T214I Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 214 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CAGTTTTAGGGTCTTGGAACA 0.537000 17 65 0 0 1 0 0 SGK1 6446 broad.mit.edu 37 6 134492024 134492024 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:134492024G>A ENST00000367858.5 - 13 1950 c.1353C>T c.(1351-1353)tcC>tcT p.S451S SGK1_ENST00000367857.5_Silent_p.S346S|SGK1_ENST00000475719.2_Silent_p.S312S|SGK1_ENST00000413996.3_Silent_p.S370S|SGK1_ENST00000237305.7_Silent_p.S356S|SGK1_ENST00000528577.1_Silent_p.S384S NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 356 apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) AGTTAATTAAGGAGAAGAAGA 0.393000 5 58 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44253763 44253763 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:44253763G>A ENST00000371505.4 - 3 906 c.784C>T c.(784-786)Ctc>Ttc p.L262F TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.L109F|TCTE1_ENST00000371503.3_Missense_Mutation_p.L109F NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 262 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TAGGTGAAGAGGAAGAGATTC 0.592000 11 126 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31588407 31588407 + Silent SNP G G T rs143539472 byFrequency TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:31588407G>T ENST00000379416.3 - 23 2508 c.2460C>A c.(2458-2460)acC>acA p.T820T NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 820 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.T820T(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) CAGGGCGGCCGGTCCTGGGGG 0.552000 28 158 7.63091e-17 7.80369e-17 1 1 0 EIF2D 1939 broad.mit.edu 37 1 206772928 206772928 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:206772928G>A ENST00000271764.2 - 10 1299 c.1091C>T c.(1090-1092)tCc>tTc p.S364F EIF2D_ENST00000367114.3_Missense_Mutation_p.S240F NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D 364 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GATAGTCTGGGAGGTCGGGGA 0.507000 16 88 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109539872 109539872 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:109539872C>T ENST00000409271.1 - 6 837 c.394G>A c.(394-396)Ggc>Agc p.G132S EDAR_ENST00000376651.1_Missense_Mutation_p.G132S|EDAR_ENST00000258443.2_Missense_Mutation_p.G132S Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 132 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CAGACCATGCCATAGATGTTC 0.547000 18 205 0 0 1 0 0 PLA2G5 5322 broad.mit.edu 37 1 20412721 20412721 + Splice_Site SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:20412721G>A ENST00000375108.3 + 3 453 c.e3+1 PLA2G5_ENST00000486277.1_Splice_Site NM_000929.2 NP_000920.1 P39877 PA2G5_HUMAN phospholipase A2, group V lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) GCACCGATTGGTGAGCTGATC 0.517000 11 82 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181765 140181765 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140181765C>T ENST00000522353.2 + 1 983 c.983C>T c.(982-984)cCc>cTc p.P328L PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P328L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGGAAATCCCCCAATGTCA 0.373000 4 88 0 0 1 0 0 ACER2 340485 broad.mit.edu 37 9 19450565 19450565 + Nonsense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:19450565G>A ENST00000340967.2 + 6 785 c.759G>A c.(757-759)tgG>tgA p.W253* NM_001010887.2 NP_001010887.2 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 253 ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 13 ATGAGAAATGGGCCTTCATTG 0.507000 11 74 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56137870 56137870 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:56137870G>A ENST00000319441.4 + 4 689 c.525G>A c.(523-525)cgG>cgA p.R175R PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.R43R NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 175 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TCATGACGCGGATGGGCACGC 0.572000 15 111 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28574447 28574447 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:28574447G>A ENST00000220562.4 + 3 1773 c.871G>A c.(871-873)Gtc>Atc p.V291I EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 291 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TCTCTATAACGTCAGTACTGG 0.522000 4 50 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113163201 113163201 + Missense_Mutation SNP A A C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:113163201A>C ENST00000401783.2 - 40 10091 c.9755T>G c.(9754-9756)gTg>gGg p.V3252G SVEP1_ENST00000297826.5_Missense_Mutation_p.V1178G|SVEP1_ENST00000374469.1_Missense_Mutation_p.V3229G NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3252 Sushi 31. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ACTGCCAACCACAAATCCATG 0.403000 3 24 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17793307 17793307 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:17793307G>A ENST00000379472.3 + 2 696 c.666G>A c.(664-666)acG>acA p.T222T KCNC1_ENST00000265969.6_Silent_p.T222T NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 222 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TGAACAAGACGGAGATCGAGA 0.582000 6 67 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226050548 226050548 + Translation_Start_Site SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:226050548G>A ENST00000537914.1 - 0 408 TMEM63A_ENST00000366835.3_Silent_p.D250D|TMEM63A_ENST00000474478.1_5'UTR O94886 TM63A_HUMAN transmembrane protein 63A integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) TGGGATACGCGTCCCTGTGGC 0.567000 8 68 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96922768 96922768 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:96922768C>T ENST00000267584.4 + 11 1227 c.1183C>T c.(1183-1185)Cac>Tac p.H395Y NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 395 Adenylate kinase. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CAAACTGCATCACATCCAACT 0.393000 9 74 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101845351 101845351 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:101845351C>T ENST00000360264.3 + 18 2827 c.2807C>T c.(2806-2808)cCc>cTc p.P936L CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P903L|CUX1_ENST00000556210.1_Missense_Mutation_p.P767L|CUX1_ENST00000550008.2_Missense_Mutation_p.P869L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P925L|CUX1_ENST00000546411.2_Missense_Mutation_p.P823L|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 925 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CCCACCAAGCCCTCGGTCCCC 0.642000 33 195 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54735191 54735191 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:54735191G>A ENST00000306858.7 + 2 263 c.147G>A c.(145-147)caG>caA p.Q49Q NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 49 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTCTTGTCCAGGAACGAGTTT 0.388000 4 43 0 0 1 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 33647359 33647359 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:33647359C>T ENST00000558425.1 - 2 240 c.241G>A c.(241-243)Gac>Aac p.D81N TTCACAGAGTCTGCGTAGTTT 0.502000 26 303 0 0 1 0 0 CELF5 60680 broad.mit.edu 37 19 3282252 3282252 + Silent SNP C C T rs144542912 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:3282252C>T ENST00000541430.2 + 7 915 c.879C>T c.(877-879)atC>atT p.I293I CELF5_ENST00000292672.2_Silent_p.I293I NM_001172673.1 NP_001166144.1 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 293 I -> V (in Ref. 5; AAK07476). mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 CCACACCCATCGCTCCTGCCT 0.672000 5 17 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515025 195515025 + Silent SNP A A G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:195515025A>G ENST00000463781.3 - 2 3885 c.3426T>C c.(3424-3426)acT>acC p.T1142T MUC4_ENST00000475231.1_Silent_p.T1142T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1019 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.T1142T(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ATACTGAGGAAGTGTCGGTGA 0.562000 3 5 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113446901 113446901 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:113446901C>T ENST00000392583.2 + 10 2112 c.1905C>T c.(1903-1905)atC>atT p.I635I OAS2_ENST00000342315.4_Silent_p.I635I|RP1-71H24.1_ENST00000552784.1_RNA NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 635 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GGCCTGTGATCTTGGACCCAG 0.493000 27 158 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47343143 47343143 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:47343143G>A ENST00000398879.1 - 22 3228 c.2862C>T c.(2860-2862)ccC>ccT p.P954P TNS3_ENST00000355730.3_Silent_p.P714P|TNS3_ENST00000311160.9_Silent_p.P954P Q68CZ2 TENS3_HUMAN tensin 3 954 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 CCATGGGCTTGGGGCTGCTCT 0.597000 5 7 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563208 140563208 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140563208G>A ENST00000361016.2 + 1 2229 c.1074G>A c.(1072-1074)gaG>gaA p.E358E NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 358 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCATCCCAGAGAACTCGCCTG 0.522000 8 91 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165953813 165953813 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:165953813C>T ENST00000360093.3 - 23 4679 c.4188G>A c.(4186-4188)gtG>gtA p.V1396V SCN3A_ENST00000409101.3_Silent_p.V1347V|SCN3A_ENST00000283254.7_Silent_p.V1396V NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1396 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AGTTTACTTTCACGTTTTTCC 0.403000 10 27 0 0 1 0 0 TCL1A 8115 broad.mit.edu 37 14 96178665 96178665 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:96178665G>A ENST00000402399.1 - 2 318 c.189C>T c.(187-189)acC>acT p.T63T TCL1A_ENST00000555202.1_Silent_p.T63T|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000554012.1_Silent_p.T63T|TCL1A_ENST00000556450.1_Silent_p.T63T|RP11-164H13.1_ENST00000553445.1_RNA NM_021966.2 NP_068801.1 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 63 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TCTGGGTGGGGGTCATAGGCC 0.547000 T TRA@ T-CLL 18 102 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 132193153 132193153 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:132193153G>A ENST00000359827.3 - 2 1262 c.300C>T c.(298-300)atC>atT p.I100I PLXNA4_ENST00000423507.2_Silent_p.I100I|PLXNA4_ENST00000378539.5_Silent_p.I100I|PLXNA4_ENST00000321063.4_Silent_p.I100I Q9HCM2 PLXA4_HUMAN plexin A4 100 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AGGTCTGGACGATGCGGGGTG 0.557000 17 73 0 0 1 0 0 MKL1 57591 broad.mit.edu 37 22 40816901 40816901 + Missense_Mutation SNP C C G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr22:40816901C>G ENST00000396617.3 - 10 1421 c.831G>C c.(829-831)caG>caC p.Q277H MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000355630.3_Missense_Mutation_p.Q277H|MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 277 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GCTGCTGCTGCTGGTTGAGGA 0.657000 T RBM15 acute megakaryocytic leukemia 4 94 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31855918 31855918 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:31855918G>A ENST00000395728.3 - 12 1815 c.1816C>T c.(1816-1818)Ccc>Tcc p.P606S EHMT2_ENST00000375528.4_Missense_Mutation_p.P572S|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.P515S|EHMT2_ENST00000375537.4_Missense_Mutation_p.P549S Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 549 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 TCACCCCGGGGGATGGTCACC 0.652000 6 48 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090384 115090384 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:115090384C>T ENST00000361283.1 + 3 1376 c.1067C>T c.(1066-1068)cCt>cTt p.P356L NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 356 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding TCTGTATCTCCTGGACCTTGG 0.502000 8 107 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 88365890 88365890 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:88365890G>A ENST00000518476.1 + 10 1230 c.1179G>A c.(1177-1179)atG>atA p.M393I NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 393 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TTGTTTATATGGGGAAACTTA 0.323000 3 11 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95081330 95081330 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:95081330G>A ENST00000553947.1 + 5 1515 c.627G>A c.(625-627)gtG>gtA p.V209V SERPINA3_ENST00000393078.3_Silent_p.V184V|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Silent_p.V184V|SERPINA3_ENST00000393080.4_Silent_p.V184V P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 184 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) ACGACTACGTGAAGAATGGAA 0.488000 12 94 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2408369 2408369 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:2408369G>A ENST00000332578.3 + 7 756 c.756G>A c.(754-756)acG>acA p.T252T NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 252 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) AAGACCCGACGAAGTGGGTGG 0.657000 16 53 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114203843 114203843 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr4:114203843C>T ENST00000357077.4 + 18 1947 c.1894C>T c.(1894-1896)Ccg>Tcg p.P632S ANK2_ENST00000264366.6_Missense_Mutation_p.P632S|ANK2_ENST00000394537.3_Missense_Mutation_p.P632S|ANK2_ENST00000506722.1_Missense_Mutation_p.P611S NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 632 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) TGGCTATACTCCGTTACATAT 0.348000 5 13 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19211483 19211483 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr22:19211483G>A ENST00000263200.10 - 14 2295 c.2223C>T c.(2221-2223)atC>atT p.I741I CLTCL1_ENST00000353891.5_Silent_p.I741I|CLTCL1_ENST00000427926.1_Silent_p.I741I NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 741 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CCACCTCCTTGATCTGCCCTG 0.522000 T ? ALCL 11 54 0 0 1 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180558 142180558 + RNA SNP C C A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:142180558C>A ENST00000390368.2 - 0 366 TGGGAGGGAGCAGCCGACAGC 0.557000 65 366 6.01781e-45 6.17737e-45 1 1 0 TTN 7273 broad.mit.edu 37 2 179612246 179612246 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:179612246G>A ENST00000360870.5 - 46 15103 c.14881C>T c.(14881-14883)Cgt>Tgt p.R4961C TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1078 Ig-like 30. 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) GAAAGTGGACGACCTAGTGAT 0.408000 4 20 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106208028 106208028 + RNA SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:106208028C>T ENST00000390548.2 - 0 774 ACGGCGATGTCGCTGGGATAG 0.612000 66 183 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45672385 45672385 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:45672385G>A ENST00000308064.2 - 4 759 c.89C>T c.(88-90)tCc>tTc p.S30F NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 30 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GGTGTGAAAGGACTTGGCGGT 0.652000 13 132 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75530502 75530502 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr10:75530502G>A ENST00000339365.2 + 23 3252 c.3090G>A c.(3088-3090)aaG>aaA p.K1030K SEC24C_ENST00000535742.1_Silent_p.K278K|SEC24C_ENST00000345254.4_Silent_p.K1030K|SEC24C_ENST00000540668.1_Silent_p.K278K|SEC24C_ENST00000411652.2_Silent_p.K911K NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 1030 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) CACTGTCCAAGAAGGTTCGAG 0.463000 14 80 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75693210 75693210 + Missense_Mutation SNP T T A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:75693210T>A ENST00000394947.3 - 11 1912 c.1598A>T c.(1597-1599)tAt>tTt p.Y533F SIN3A_ENST00000394949.4_Missense_Mutation_p.Y533F|SIN3A_ENST00000360439.4_Missense_Mutation_p.Y533F NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 533 Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CTCCTTTGGATAAGTTTCCAG 0.418000 3 31 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40093419 40093419 + Nonsense_Mutation SNP G G A rs147730816 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:40093419G>A ENST00000299092.3 - 4 1657 c.1459C>T c.(1459-1461)Cag>Tag p.Q487* GPR176_ENST00000561100.1_Nonsense_Mutation_p.Q488*|GPR176_ENST00000543580.1_Nonsense_Mutation_p.Q443*|RP11-37C7.1_ENST00000558616.1_RNA NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 488 synaptic transmission integral to plasma membrane G-protein coupled receptor activity p.Q488*(1) central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) ACCTTTGTCTGGATCAGCTCT 0.517000 25 102 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5048751 5048751 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:5048751C>T ENST00000574788.1 + 27 4274 c.2044C>T c.(2044-2046)Cat>Tat p.H682Y USP6_ENST00000304328.5_Missense_Mutation_p.H365Y|USP6_ENST00000250066.6_Missense_Mutation_p.H682Y|USP6_ENST00000332776.4_Missense_Mutation_p.H682Y P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 682 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GGATTTGTTCCATGGGCAGCT 0.388000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 9 49 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86964337 86964337 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:86964337C>T ENST00000234701.3 + 14 2547 c.2196C>T c.(2194-2196)tcC>tcT p.S732S CLCA1_ENST00000394711.1_Silent_p.S732S A8K7I4 CLCA1_HUMAN chloride channel accessory 1 732 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity 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) GCAGAACATCCTCGGGAGGCT 0.448000 9 113 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34064264 34064264 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:34064264C>T ENST00000389232.4 + 63 9030 c.8960C>T c.(8959-8961)tCt>tTt p.S2987F RYR3_ENST00000415757.3_Missense_Mutation_p.S2987F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2987 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAAGGCGTTTCTCAGAATATT 0.453000 6 33 0 0 1 0 0 ASMTL 8623 broad.mit.edu 37 X 1522331 1522331 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:1522331G>A ENST00000534940.1 - 13 1748 c.1523C>T c.(1522-1524)gCg>gTg p.A508V ASMTL_ENST00000381317.3_Missense_Mutation_p.A566V|ASMTL-AS1_ENST00000443929.1_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000381333.4_Missense_Mutation_p.A550V|ASMTL_ENST00000416733.2_Missense_Mutation_p.A490V|ASMTL-AS1_ENST00000420411.2_RNA NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 566 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCGCGCTGCGCCACCCTCTT 0.652000 16 117 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47989612 47989612 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:47989612C>T ENST00000371741.4 - 2 2651 c.2485G>A c.(2485-2487)Gaa>Aaa p.E829K NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 829 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.E829K(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTGCACTTTTCCTGACCACTG 0.522000 6 50 0 0 1 0 0 ADAL 161823 broad.mit.edu 37 15 43641177 43641177 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:43641177C>T ENST00000422466.2 + 11 1280 c.706C>T c.(706-708)Ctc>Ttc p.L236F ADAL_ENST00000562188.1_Missense_Mutation_p.L236F|ADAL_ENST00000389651.4_Missense_Mutation_p.L236F|ADAL_ENST00000428046.3_Missense_Mutation_p.L209F Q6DHV7 ADAL_HUMAN adenosine deaminase-like 236 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) TGGAACATTTCTCAACTCCGG 0.473000 9 66 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539985 133539985 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:133539985G>A ENST00000409261.1 - 14 4772 c.4399C>T c.(4399-4401)Ccc>Tcc p.P1467S NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1467S|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1467 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GGTGAGAGGGGGGCTTCTGAA 0.488000 7 15 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954947 30954947 + Missense_Mutation SNP A A C rs144550410 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:30954947A>C ENST00000376296.3 + 2 1236 c.995A>C c.(994-996)aAc>aCc p.N332T MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 332 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ACAGCCACCAACTCTGAGTCC 0.622000 8 485 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 32483090 32483090 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:32483090C>T ENST00000359872.6 - 1 1223 c.462G>A c.(460-462)ctG>ctA p.L154L NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 154 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GCAGGAACTCCAGCATGCTGA 0.577000 31 133 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48239251 48239251 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:48239251G>A ENST00000309562.2 + 1 908 c.890G>A c.(889-891)aGa>aAa p.R297K NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 297 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 ATCGCCATAAGAAGATTGTGG 0.418000 5 36 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27948907 27948907 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:27948907C>T ENST00000379992.2 - 6 2212 c.1763G>A c.(1762-1764)gGt>gAt p.G588D LINGO2_ENST00000308675.3_Missense_Mutation_p.G588D NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 588 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CACAACAGCACCATTGTTTTT 0.453000 6 29 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67389392 67389392 + Nonsense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:67389392C>T ENST00000478722.1 + 7 1587 c.466C>T c.(466-468)Caa>Taa p.Q156* GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Nonsense_Mutation_p.Q138*|GPHN_ENST00000315266.5_Nonsense_Mutation_p.Q156*|GPHN_ENST00000305960.9_Nonsense_Mutation_p.Q125*|GPHN_ENST00000543237.1_Nonsense_Mutation_p.Q169* NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 156 Interaction with GABARAP (By similarity).|MPT Mo-transferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) GGAATGCTTTCAATTCATACT 0.368000 T MLL AL 9 76 0 0 1 0 0 MAP2K1 5604 broad.mit.edu 37 15 66774131 66774131 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:66774131G>A ENST00000307102.5 + 6 1138 c.607G>A c.(607-609)Gag>Aag p.E203K MAP2K1_ENST00000566326.1_Missense_Mutation_p.E27K NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 203 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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 cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E203K(4) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 CTCCCGTGGGGAGATCAAGCT 0.522000 26 88 0 0 1 0 0 CCDC138 165055 broad.mit.edu 37 2 109463246 109463246 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:109463246G>A ENST00000295124.4 + 12 1436 c.1376G>A c.(1375-1377)gGa>gAa p.G459E CCDC138_ENST00000412964.2_Missense_Mutation_p.G459E NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 459 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 ATTTTTAAAGGAGTGGTAACT 0.348000 5 44 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103724 53103724 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:53103724G>A ENST00000408890.4 + 1 376 c.360G>A c.(358-360)atG>atA p.M120I NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 120 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 AGGGTTGCATGAAAGGGGGGC 0.706000 8 58 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61986959 61986959 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:61986959C>T ENST00000409186.1 - 5 3378 c.1273G>A c.(1273-1275)Gaa>Aaa p.E425K PCDH20_ENST00000409204.4_Missense_Mutation_p.E425K Q8N6Y1 PCD20_HUMAN protocadherin 20 398 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GGGACAATTTCAGGGGGTCTG 0.448000 13 66 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75865438 75865438 + Missense_Mutation SNP C C G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:75865438C>G ENST00000322507.8 - 16 3692 c.3383G>C c.(3382-3384)aGa>aCa p.R1128T COL12A1_ENST00000483888.2_Missense_Mutation_p.R1128T|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1128T|COL12A1_ENST00000345356.6_Intron NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1128 Fibronectin type-III 8. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCCCAGTCTTCTGTCATCCCC 0.468000 3 64 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26129185 26129185 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:26129185C>T ENST00000381655.2 + 13 1384 c.1242C>T c.(1240-1242)aaC>aaT p.N414N ATP8A2_ENST00000255283.8_Silent_p.N374N NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 374 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GGACATCAAACCTTAATGAAG 0.428000 3 28 0 0 1 0 0 GPC1 2817 broad.mit.edu 37 2 241404942 241404942 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:241404942G>A ENST00000264039.2 + 8 1569 c.1321G>A c.(1321-1323)Gag>Aag p.E441K NM_002081.2 NP_002072.2 P35052 GPC1_HUMAN glypican 1 441 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) CAACAACCCCGAGGTGGAGGT 0.622000 14 103 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180419923 180419923 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:180419923C>T ENST00000342868.6 + 2 344 c.160C>T c.(160-162)Cgg>Tgg p.R54W NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 54 lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) TATGGAAGTGCGGTTCTTCAG 0.552000 4 80 0 0 1 0 0 NAGK 55577 broad.mit.edu 37 2 71303799 71303799 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:71303799C>T ENST00000418807.3 + 7 744 c.580C>T c.(580-582)Cac>Tac p.H194Y NAGK_ENST00000455662.2_Missense_Mutation_p.H291Y|NAGK_ENST00000244204.5_Missense_Mutation_p.H245Y Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase 245 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) GCTGGGCAGACACATCGTAGC 0.592000 8 81 0 0 1 0 0 DLX6 1750 broad.mit.edu 37 7 96635340 96635340 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:96635340C>T ENST00000518156.2 + 1 481 c.51C>T c.(49-51)tcC>tcT p.S17S DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Silent_p.S17S|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) AGGACTCGTCCAAATCCGCCT 0.617000 3 28 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17846834 17846834 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:17846834G>A ENST00000448223.2 - 28 3477 c.3208C>T c.(3208-3210)Cct>Tct p.P1070S SMC6_ENST00000351948.4_Missense_Mutation_p.P1070S|SMC6_ENST00000381272.4_Missense_Mutation_p.P1096S|SMC6_ENST00000402989.1_Missense_Mutation_p.P1070S NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 1070 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCTCTTTCAGGATCAGACATT 0.368000 3 54 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89346628 89346628 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:89346628C>T ENST00000301030.4 - 9 6782 c.6322G>A c.(6322-6324)Ggc>Agc p.G2108S ANKRD11_ENST00000378330.2_Missense_Mutation_p.G2108S NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2108 Pro-rich. 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) TGAGACAGGCCGCGGCTGCCG 0.731000 4 12 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37272719 37272719 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:37272719G>A ENST00000310758.4 - 8 1177 c.530C>T c.(529-531)tCg>tTg p.S177L ELMO1_ENST00000448602.1_Missense_Mutation_p.S177L|ELMO1_ENST00000442504.1_Missense_Mutation_p.S177L NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 177 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GAACGCCACCGAAAATGTATC 0.463000 3 52 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516182 140516182 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140516182C>T ENST00000231134.5 + 1 1383 c.1166C>T c.(1165-1167)cCc>cTc p.P389L NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 389 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGATCTCCCCTTTCTTTTG 0.473000 3 45 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62655924 62655924 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:62655924C>T ENST00000535781.1 + 14 1897 c.1786C>T c.(1786-1788)Ctc>Ttc p.L596F ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 596 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) CCTGGAAGCACTCCTGCAGAG 0.622000 16 64 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41684283 41684283 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr21:41684283G>A ENST00000400454.1 - 9 2264 c.1787C>T c.(1786-1788)cCg>cTg p.P596L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 596 Ig-like C2-type 7. 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) TATGAAAGGCGGAACTGCAAG 0.448000 3 18 0 0 1 0 0 TMIGD1 388364 broad.mit.edu 37 17 28651902 28651902 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:28651902C>T ENST00000328886.4 - 4 644 c.572G>A c.(571-573)gGa>gAa p.G191E TMIGD1_ENST00000538566.2_Missense_Mutation_p.G191E NM_206832.1 NP_996663.1 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain containing 1 191 Ig-like C2-type 2. integral to membrane breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 12 ACTGTAGGTTCCGTTGTCAGG 0.423000 9 86 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95656847 95656847 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:95656847C>T ENST00000436874.1 + 4 529 c.424C>T c.(424-426)Cct>Tct p.P142S VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.P94S NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 142 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 CCTGGCAACCCCTAATATTTG 0.448000 11 175 0 0 1 0 0 NXN 64359 broad.mit.edu 37 17 726987 726987 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:726987C>T ENST00000336868.3 - 3 588 c.497G>A c.(496-498)gGa>gAa p.G166E NXN_ENST00000575801.1_Missense_Mutation_p.G58E|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000577098.1_5'UTR NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin 166 cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GGGTTTCGGTCCCCAGGGGAA 0.542000 6 57 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324457 3324457 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:3324457C>T ENST00000291231.1 + 1 596 c.596C>T c.(595-597)tCc>tTc p.S199F NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 CTCTCCTGCTCCAGCACCCAA 0.552000 15 66 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11059590 11059590 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:11059590G>A ENST00000287766.4 + 4 721 c.300G>A c.(298-300)ctG>ctA p.L100L SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 100 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TCTTCCTGCTGGAGTGCTCCC 0.577000 27 160 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97366109 97366109 + RNA SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:97366109G>A ENST00000457909.1 + 0 4474 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 GACCCAAGAAGGAACGCCTTG 0.587000 10 64 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44847370 44847370 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:44847370G>A ENST00000326047.4 + 16 2012 c.1863G>A c.(1861-1863)caG>caA p.Q621Q KIF15_ENST00000425755.1_Silent_p.Q256Q NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 621 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CAGAGCTTCAGTCTTTGCAAA 0.343000 8 80 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108489194 108489194 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:108489194G>A ENST00000408999.3 + 20 4811 c.4734G>A c.(4732-4734)ttG>ttA p.L1578L RGPD4_ENST00000354986.4_Silent_p.L1578L NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1578 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 ATGCATCTTTGAAAAGTAACA 0.353000 25 98 0 0 1 0 0 WTAP 9589 broad.mit.edu 37 6 160176365 160176365 + Missense_Mutation SNP T T C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:160176365T>C ENST00000358372.4 + 8 2670 c.913T>C c.(913-915)Tct>Cct p.S305P SOD2_ENST00000546087.1_Intron NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein 305 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) TGACTTTCCTTCTTCTCCAGG 0.512000 8 57 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88391952 88391952 + Missense_Mutation SNP T T A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:88391952T>A ENST00000298699.2 - 4 329 c.149A>T c.(148-150)aAa>aTa p.K50I C12orf50_ENST00000550553.1_Missense_Mutation_p.K50I NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 50 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 CTGAATTTCTTTCTGTAGTGT 0.373000 5 20 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99128995 99128995 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:99128995C>T ENST00000394170.2 + 7 1894 c.1643C>T c.(1642-1644)cCa>cTa p.P548L ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P548L|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P548L NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 548 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGAGAGAGACCACATAAATGT 0.418000 7 61 0 0 1 0 0 RNF139 11236 broad.mit.edu 37 8 125498264 125498264 + Nonsense_Mutation SNP C C A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:125498264C>A ENST00000303545.3 + 2 746 c.374C>A c.(373-375)tCg>tAg p.S125* NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 125 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AAAGGTCCCTCGCTGTGGATG 0.398000 3 65 0.014758 0.0148677 1 1 0 NLRX1 79671 broad.mit.edu 37 11 119044728 119044728 + Missense_Mutation SNP G G C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:119044728G>C ENST00000409109.1 + 5 1357 c.770G>C c.(769-771)gGa>gCa p.G257A NLRX1_ENST00000292199.2_Missense_Mutation_p.G257A|NLRX1_ENST00000525863.1_Missense_Mutation_p.G257A|NLRX1_ENST00000409991.1_Missense_Mutation_p.G257A|NLRX1_ENST00000409265.4_Missense_Mutation_p.G257A Q86UT6 NLRX1_HUMAN NLR family member X1 257 NACHT.|Required for interaction with MAVS. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCAGGCACGGGACTTTGTAGT 0.592000 9 64 0 0 1 0 0 GPN2 54707 broad.mit.edu 37 1 27215604 27215604 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:27215604G>A ENST00000374135.4 - 2 624 c.424C>T c.(424-426)Cac>Tac p.H142Y NM_018066.3 NP_060536.3 Q9H9Y4 GPN2_HUMAN GPN-loop GTPase 2 142 GTP binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 TCCACGAGGTGGACGGCAGTC 0.557000 6 47 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159912857 159912857 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:159912857C>T ENST00000368094.1 - 3 340 c.143G>A c.(142-144)gGc>gAc p.G48D IGSF9_ENST00000361509.3_Missense_Mutation_p.G48D NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 48 Ig-like 1. 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) ggggggccggccggccggggg 0.642000 18 56 0 0 1 0 0 ERMAP 114625 broad.mit.edu 37 1 43296766 43296766 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:43296766C>T ENST00000328249.3 + 1 1181 c.143C>T c.(142-144)aCc>aTc p.T48I ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Missense_Mutation_p.T138I|ERMAP_ENST00000372517.2_Missense_Mutation_p.T138I Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein (Scianna blood group) 138 Ig-like V-type. integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AAAGAGGACACCGTGATCCTG 0.498000 6 31 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178551987 178551987 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:178551987C>T ENST00000251582.7 - 19 3046 c.2945G>A c.(2944-2946)gGg>gAg p.G982E NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 982 TSP type-1 4. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GGACCAGGGCCCGGCTCGCCA 0.692000 8 68 0 0 1 0 0 SFRP4 6424 broad.mit.edu 37 7 37951872 37951872 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:37951872C>T ENST00000436072.2 - 4 1017 c.640G>A c.(640-642)Gtc>Atc p.V214I EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 214 NTR. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 ACCGTTGTGACCTCATTGCAG 0.418000 5 44 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530763 140530763 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140530763G>A ENST00000231136.1 + 1 925 c.925G>A c.(925-927)Gaa>Aaa p.E309K PCDHB6_ENST00000543635.1_Missense_Mutation_p.E173K NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 309 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGATTTTGAGGAAATTCAGTC 0.463000 5 63 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82815203 82815203 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:82815203G>A ENST00000265077.3 + 7 1643 c.1078G>A c.(1078-1080)Gca>Aca p.A360T VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.A360T|VCAN_ENST00000512590.2_Missense_Mutation_p.A312T|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 360 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GAGTATCCTCGCAGAAACTGC 0.368000 7 100 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38601810 38601810 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:38601810C>T ENST00000413689.1 - 23 4266 c.4073G>A c.(4072-4074)gGg>gAg p.G1358E SCN5A_ENST00000449557.2_Missense_Mutation_p.G1304E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1357E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1358E|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1358E|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1358E|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1357E|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1357E|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1304E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1304E NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1358 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCCAAACTTCCCCGCAAAGAG 0.542000 12 85 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122632785 122632785 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:122632785G>A ENST00000195173.4 - 15 2355 c.2052C>T c.(2050-2052)ttC>ttT p.F684F SEMA5B_ENST00000357599.3_Silent_p.F684F|SEMA5B_ENST00000451055.2_Silent_p.F738F Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 684 TSP type-1 1. 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) GGCGGACCTGGAAGCCGATGC 0.687000 29 126 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57578672 57578672 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:57578672C>T ENST00000243077.3 + 39 6703 c.6237C>T c.(6235-6237)atC>atT p.I2079I NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2079 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TTGAACGGATCGACCTGGAGA 0.547000 7 59 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65621770 65621770 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:65621770G>A ENST00000327987.4 - 13 2414 c.2163C>T c.(2161-2163)ttC>ttT p.F721F NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 721 p.F721L(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGGCCGGGGGGAACAGCTGCT 0.637000 44 243 0 0 1 0 0 EGR3 1960 broad.mit.edu 37 8 22548017 22548017 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:22548017G>A ENST00000317216.2 - 2 1490 c.1133C>T c.(1132-1134)tCg>tTg p.S378L RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.S340L|EGR3_ENST00000519492.1_3'UTR NM_001199881.1|NM_004430.2 NP_001186810.1|NP_004421.2 Q06889 EGR3_HUMAN early growth response 3 378 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) GGGGGCCAGCGACACGGGGGG 0.672000 4 47 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807033 143807033 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:143807033G>A ENST00000408979.2 + 1 427 c.358G>A c.(358-360)Gat>Aat p.D120N NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GATGTCCTATGATAGGTATGT 0.468000 6 51 0 0 1 0 0 SLC34A3 142680 broad.mit.edu 37 9 140126553 140126553 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:140126553G>A ENST00000538474.1 + 3 339 c.115G>A c.(115-117)Gaa>Aaa p.E39K SLC34A3_ENST00000361134.2_Missense_Mutation_p.E39K NM_001177316.1|NM_001177317.1 NP_001170787.1|NP_001170788.1 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 39 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) AGTCTTGGAGGAAGGGGACAC 0.627000 26 240 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 10973694 10973694 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:10973694G>A ENST00000304623.8 - 22 3738 c.3549C>T c.(3547-3549)agC>agT p.S1183S CTNND2_ENST00000503622.1_Silent_p.S846S|CTNND2_ENST00000511377.1_Silent_p.S1092S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.S1125S|CTNND2_ENST00000458100.2_Silent_p.S750S NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1183 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.S1183S(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TGGTGTACTCGCTGGCGGGAG 0.522000 23 105 0 0 1 0 0 SPACA1 81833 broad.mit.edu 37 6 88768507 88768507 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:88768507C>T ENST00000237201.1 + 4 558 c.441C>T c.(439-441)ttC>ttT p.F147F NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 147 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) TAAATCGTTTCAAATATATGT 0.333000 5 23 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231109788 231109788 + Splice_Site SNP T T G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:231109788T>G ENST00000417495.3 + 6 758 c.e6+2 SP140_ENST00000392045.3_Silent_p.G219G|SP140_ENST00000420434.3_Silent_p.G219G|SP140_ENST00000343805.6_Silent_p.G219G|SP140_ENST00000350136.5_Silent_p.G199G|SP140_ENST00000486687.2_Silent_p.G219G Q13342 LY10_HUMAN SP140 nuclear body protein defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TACTACCAGGTGGGGGAGGTA 0.453000 4 18 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129547017 129547017 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:129547017C>T ENST00000393238.3 - 3 545 c.205G>A c.(205-207)Gat>Aat p.D69N TMCC1_ENST00000426664.2_Intron NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 69 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGCTGCACATCATGTGGAGAC 0.502000 8 65 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769724 247769724 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:247769724C>T ENST00000320002.2 + 1 869 c.837C>T c.(835-837)acC>acT p.T279T RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCTTCTACACCATGGTGACCC 0.428000 4 42 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G G T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:13711709G>T ENST00000011619.3 - 1 87 c.29C>A c.(28-30)cCg>cAg p.P10Q NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.761000 3 20 0.115264 0.115691 1 1 0 UBB 7314 broad.mit.edu 37 17 16285382 16285382 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:16285382G>A ENST00000302182.3 + 2 553 c.161G>A c.(160-162)cGt>cAt p.R54H UBB_ENST00000395837.1_Missense_Mutation_p.R54H|UBB_ENST00000395839.1_Missense_Mutation_p.R54H|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Missense_Mutation_p.R54H NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 54 Ubiquitin-like 1. 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) GAAGATGGCCGTACTCTTTCT 0.547000 4 125 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71757314 71757314 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:71757314C>T ENST00000318442.5 - 2 500 c.10G>A c.(10-12)Gaa>Aaa p.E4K NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) ATCTTCATTTCCTTCTGCATC 0.423000 8 70 0 0 1 0 0 UNC119 9094 broad.mit.edu 37 17 26874714 26874714 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:26874714G>A ENST00000484980.1 - 3 3467 c.306C>T c.(304-306)ccC>ccT p.P102P UNC119_ENST00000470125.1_Silent_p.P102P|UNC119_ENST00000335765.4_Silent_p.P197P|UNC119_ENST00000301032.4_Silent_p.P197P Q13432 U119A_HUMAN unc-119 homolog (C. elegans) 197 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) CGGAGAGAGGGGGGAAGTCGT 0.597000 OREG0024277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 73 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5048750 5048750 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:5048750C>T ENST00000574788.1 + 27 4273 c.2043C>T c.(2041-2043)ttC>ttT p.F681F USP6_ENST00000304328.5_Silent_p.F364F|USP6_ENST00000250066.6_Silent_p.F681F|USP6_ENST00000332776.4_Silent_p.F681F P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 681 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TGGATTTGTTCCATGGGCAGC 0.383000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 10 48 0 0 1 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986560 11986560 + RNA SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:11986560G>A ENST00000434078.2 + 0 608 NR_027425.1 CCCATATTCTGGAGACCAGCT 0.557000 8 40 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85660251 85660251 + Silent SNP C C T rs140312391 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr4:85660251C>T ENST00000322366.6 - 40 6893 c.6486G>A c.(6484-6486)ctG>ctA p.L2162L WDFY3_ENST00000295888.4_Silent_p.L2162L Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2162 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CTTCTGCTTCCAGTCCAAATC 0.403000 11 45 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100482173 100482173 + Splice_Site SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:100482173G>A ENST00000388793.4 + 7 1162 c.942_splice c.e7+1 p.Q314_splice SRRT_ENST00000432932.1_Splice_Site_p.Q314_splice|SRRT_ENST00000457580.2_Splice_Site_p.Q314_splice|SRRT_ENST00000347433.4_Splice_Site_p.Q314_splice NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 314 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ACGGCAAGCAGGTCCGAGCCC 0.617000 4 38 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 3 26 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43859822 43859822 + RNA SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:43859822C>T ENST00000378009.4 + 0 431 CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) GACCCAGGATCCTTGAGGTGC 0.547000 10 89 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24823810 24823810 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:24823810C>T ENST00000424834.2 + 5 2322 c.1849C>T c.(1849-1851)Cgt>Tgt p.R617C SPATA13_ENST00000382108.3_Missense_Mutation_p.R617C|SPATA13_ENST00000382095.4_5'UTR Q96N96 SPT13_HUMAN spermatogenesis associated 13 0 C-terminal tail. cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) GAAGGAAGACCGTGTGGACGA 0.622000 12 120 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96237103 96237103 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:96237103C>T ENST00000347108.3 - 20 2843 c.2411G>A c.(2410-2412)gGa>gAa p.G804E DZIP1_ENST00000361156.3_Missense_Mutation_p.G785E|DZIP1_ENST00000361396.2_Missense_Mutation_p.G785E|DZIP1_ENST00000376829.2_Missense_Mutation_p.G804E Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 804 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) AGATTTTTTTCCCAAAGATAT 0.428000 4 34 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890687 229890687 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:229890687G>A ENST00000392054.3 - 4 747 c.408C>T c.(406-408)atC>atT p.I136I PID1_ENST00000409462.1_Silent_p.I56I|PID1_ENST00000354069.6_Silent_p.I138I|PID1_ENST00000392055.3_Silent_p.I105I|PID1_ENST00000482518.2_Intron NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 138 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) GGAATGGCCGGATTTCCAGGA 0.567000 5 63 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873580 36873580 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:36873580C>T ENST00000301807.6 - 21 7609 c.5712G>A c.(5710-5712)aaG>aaA p.K1904K TRANK1_ENST00000428977.2_Silent_p.K1904K|TRANK1_ENST00000429976.2_Silent_p.K2454K NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2454 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCCCAAGCTCCTTGTCCTTCT 0.512000 11 60 0 0 1 0 0 YTHDF1 54915 broad.mit.edu 37 20 61835092 61835092 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:61835092G>A ENST00000370339.3 - 4 541 c.200C>T c.(199-201)cCt>cTt p.P67L YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.P17L NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 67 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 GAGGGAGTAAGGAAATCCAAT 0.512000 21 59 0 0 1 0 0 TRAV13-1 28671 broad.mit.edu 37 14 22337305 22337305 + RNA SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:22337305C>T ENST00000390436.2 + 0 119 CCCTGAGTGTCCAGGAGGGAG 0.438000 8 50 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16217065 16217065 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:16217065G>A ENST00000339732.5 + 1 910 c.407G>A c.(406-408)gGg>gAg p.G136E GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.G136E NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 AGGGACTGGGGGGCTGATGAG 0.637000 8 29 0 0 1 0 0 OR2K2 26248 broad.mit.edu 37 9 114090456 114090456 + Silent SNP C C G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:114090456C>G ENST00000374428.1 - 1 344 c.345G>C c.(343-345)ctG>ctC p.L115L OR2K2_ENST00000302681.1_Silent_p.L86L Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 TCTGGGATGACAGCAAGTTCA 0.468000 3 28 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139158223 139158223 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:139158223G>A ENST00000395297.1 - 15 3689 c.3519C>T c.(3517-3519)ttC>ttT p.F1173F NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1173 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) CAGACATTAGGAAGTCCAGTT 0.438000 HNSCC(54;0.14) 7 44 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31995761 31995761 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:31995761G>A ENST00000438447.1 + 4 1446 c.1058G>A c.(1057-1059)gGa>gAa p.G353E PDZD2_ENST00000282493.3_Missense_Mutation_p.G353E O15018 PDZD2_HUMAN PDZ domain containing 2 353 PDZ 2. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGAGGCCGAGGATCAAAGCGC 0.532000 14 60 0 0 1 0 0 NCF1 653361 broad.mit.edu 37 7 74197924 74197924 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:74197924G>A ENST00000289473.4 + 7 701 c.631G>A c.(631-633)Gag>Aag p.E211K NCF1_ENST00000443956.3_3'UTR NM_000265.4 NP_000256.3 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 211 Asp/Glu-rich (highly acidic).|SH3 1. cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 GTCCTTCCTCGAGCCCCTGGA 0.637000 15 94 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692607 20692607 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:20692607C>T ENST00000315519.2 + 1 817 c.739C>T c.(739-741)Ccc>Tcc p.P247S NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) GCTTTGTATTCCCTCTGGTGC 0.473000 5 25 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65342720 65342720 + Missense_Mutation SNP G G A rs139105394 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:65342720G>A ENST00000402939.2 - 23 3721 c.3722C>T c.(3721-3723)tCa>tTa p.S1241L MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1270 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGACTCCAATGACGGATGCTG 0.617000 29 145 0 0 1 0 0 WFDC12 128488 broad.mit.edu 37 20 43752814 43752814 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:43752814C>T ENST00000372785.3 - 2 189 c.172G>A c.(172-174)Gaa>Aaa p.E58K NM_080869.1 NP_543145.1 Q8WWY7 WFD12_HUMAN WAP four-disulfide core domain 12 58 WAP. defense response to bacterium extracellular region serine-type endopeptidase inhibitor activity p.E58fs*14(1) endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 Myeloproliferative disorder(115;0.0122) CACTTCCTTTCCCCCAGACAG 0.547000 14 78 0 0 1 0 0 TRAT1 50852 broad.mit.edu 37 3 108572633 108572633 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:108572633C>T ENST00000295756.6 + 6 700 c.470C>T c.(469-471)tCc>tTc p.S157F TRAT1_ENST00000426646.1_Missense_Mutation_p.S120F NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 157 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity p.S157Y(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 GACAGTTTCTCCCCAGAAAGC 0.443000 9 51 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162769628 162769628 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:162769628C>T ENST00000367917.3 + 5 611 c.543C>T c.(541-543)ctC>ctT p.L181L HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Silent_p.L181L P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 181 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) ATTTCAGCCTCGAGGACTTCC 0.502000 11 30 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154317975 154317975 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:154317975C>T ENST00000368489.3 + 23 2747 c.2747C>T c.(2746-2748)aCc>aTc p.T916I NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 902 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TTTGCTTTCACCATGGTCCAC 0.488000 OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 248 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22939426 22939426 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:22939426C>T ENST00000397104.3 - 7 2744 c.2745G>A c.(2743-2745)ccG>ccA p.P915P zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CACATTTGTACGGTTTCTCCC 0.368000 4 44 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112403 59112403 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:59112403G>A ENST00000395153.3 + 4 1098 c.951G>A c.(949-951)agG>agA p.R317R DACT1_ENST00000541264.2_Silent_p.R73R|DACT1_ENST00000395151.3_Silent_p.R73R|DACT1_ENST00000556859.1_Silent_p.R73R|DACT1_ENST00000335867.4_Silent_p.R354R NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 354 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus p.R354S(1) endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 ACCCTGTAAGGACCAACAAAC 0.552000 6 22 0 0 1 0 0 NR6A1 2649 broad.mit.edu 37 9 127316631 127316631 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:127316631G>A ENST00000487099.2 - 3 518 c.361C>T c.(361-363)Ctc>Ttc p.L121F NR6A1_ENST00000416460.2_Missense_Mutation_p.L117F|NR6A1_ENST00000344523.4_Missense_Mutation_p.L121F|NR6A1_ENST00000373584.3_Missense_Mutation_p.L117F NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 121 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 CCCATCTGGAGGCATTTGAGC 0.493000 27 131 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640501 57640501 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:57640501C>T ENST00000254181.4 + 4 912 c.458C>T c.(457-459)tCa>tTa p.S153L USP29_ENST00000598197.1_Missense_Mutation_p.S153L NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 153 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATGTCAAAATCACCAACACAT 0.363000 7 43 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112402 59112402 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:59112402G>A ENST00000395153.3 + 4 1097 c.950G>A c.(949-951)aGg>aAg p.R317K DACT1_ENST00000541264.2_Missense_Mutation_p.R73K|DACT1_ENST00000395151.3_Missense_Mutation_p.R73K|DACT1_ENST00000556859.1_Missense_Mutation_p.R73K|DACT1_ENST00000335867.4_Missense_Mutation_p.R354K NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 354 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CACCCTGTAAGGACCAACAAA 0.557000 6 22 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59485578 59485578 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:59485578C>T ENST00000240328.3 + 7 2131 c.1850C>T c.(1849-1851)cCc>cTc p.P617L RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 617 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 AGTGCCCGGCCCCGACTGCGT 0.721000 13 73 0 0 1 0 0 NXN 64359 broad.mit.edu 37 17 726988 726988 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:726988C>T ENST00000336868.3 - 3 587 c.496G>A c.(496-498)Gga>Aga p.G166R NXN_ENST00000575801.1_Missense_Mutation_p.G58R|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000577098.1_5'UTR NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin 166 cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GGTTTCGGTCCCCAGGGGAAC 0.547000 5 57 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 92002452 92002452 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:92002452G>A ENST00000450295.1 - 12 1955 c.1179C>T c.(1177-1179)ttC>ttT p.F393F SEMA4D_ENST00000356444.2_Silent_p.F393F|SEMA4D_ENST00000420987.1_Silent_p.F393F|SEMA4D_ENST00000455551.2_Silent_p.F393F|SEMA4D_ENST00000438547.2_Silent_p.F393F|SEMA4D_ENST00000422704.2_Silent_p.F393F|SEMA4D_ENST00000339861.4_Silent_p.F393F|SEMA4D_ENST00000343780.4_Silent_p.F393F Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 393 Sema. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 GGTCTTTAACGAACTGCAGCG 0.527000 11 75 0 0 1 0 0 SDC3 9672 broad.mit.edu 37 1 31347210 31347210 + Missense_Mutation SNP C C A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:31347210C>A ENST00000336798.7 - 2 2414 c.922G>T c.(922-924)Gac>Tac p.D308Y SDC3_ENST00000339394.6_Missense_Mutation_p.D366Y O75056 SDC3_HUMAN syndecan 3 366 integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) CTGCCCGAGTCGATGGCATTG 0.667000 10 56 4.3838e-07 4.4662e-07 1 1 0 KRT74 121391 broad.mit.edu 37 12 52963652 52963652 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:52963652C>T ENST00000549343.1 - 6 1163 c.1125G>A c.(1123-1125)gtG>gtA p.V375V KRT74_ENST00000305620.2_Silent_p.V375V Q7RTS7 K2C74_HUMAN keratin 74 375 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) CCTGCTTCTTCACATTCCCGA 0.582000 7 112 0 0 1 0 0 ME2 4200 broad.mit.edu 37 18 48473491 48473491 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr18:48473491C>T ENST00000321341.5 + 16 1964 c.1692C>T c.(1690-1692)tcC>tcT p.S564S ME2_ENST00000382927.3_3'UTR|ME2_ENST00000585680.1_3'UTR NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 564 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) AATATGATTCCCTGCTGCCAG 0.433000 25 64 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24261570 24261570 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:24261570G>A ENST00000538205.1 + 14 1685 c.1138G>A c.(1138-1140)Gat>Aat p.D380N ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.D380N|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.D459N|RP11-624C23.1_ENST00000519689.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 459 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GCCTGGAACTGATTGCGGAGG 0.408000 7 26 0 0 1 0 0 UNC119 9094 broad.mit.edu 37 17 26874713 26874713 + Missense_Mutation SNP G G A rs150932837 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:26874713G>A ENST00000484980.1 - 3 3468 c.307C>T c.(307-309)Cct>Tct p.P103S UNC119_ENST00000470125.1_Missense_Mutation_p.P103S|UNC119_ENST00000335765.4_Missense_Mutation_p.P198S|UNC119_ENST00000301032.4_Missense_Mutation_p.P198S Q13432 U119A_HUMAN unc-119 homolog (C. elegans) 198 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) TCGGAGAGAGGGGGGAAGTCG 0.597000 OREG0024277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 74 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908196 103908196 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:103908196G>A ENST00000302259.3 + 1 889 c.646G>A c.(646-648)Gag>Aag p.E216K PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 216 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CAAAATAGAAGAGGAAATCCG 0.488000 9 87 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27222490 27222490 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:27222490C>T ENST00000230582.3 + 10 1184 c.1169C>T c.(1168-1170)cCc>cTc p.P390L PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.P133L NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 390 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TGTGAGAATCCCAGATGTCCT 0.522000 20 182 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128041115 128041115 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:128041115G>A ENST00000338791.6 - 6 808 c.458C>T c.(457-459)tCc>tTc p.S153F IMPDH1_ENST00000496200.1_Missense_Mutation_p.S68F|IMPDH1_ENST00000480861.1_Missense_Mutation_p.S68F|IMPDH1_ENST00000470772.1_Missense_Mutation_p.S68F|IMPDH1_ENST00000419067.2_Missense_Mutation_p.S120F|IMPDH1_ENST00000378717.4_Missense_Mutation_p.S84F|IMPDH1_ENST00000354269.5_Missense_Mutation_p.S143F|IMPDH1_ENST00000348127.6_Missense_Mutation_p.S117F|IMPDH1_ENST00000343214.4_Missense_Mutation_p.S68F NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 68 CBS 1. GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) GTCCATGGGGGAGGAGATCAG 0.577000 15 90 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 4 46 0 0 1 0 0 IGHM 3507 broad.mit.edu 37 14 106322144 106322144 + RNA SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:106322144C>T ENST00000390559.2 - 0 179 TGCCCCCTCTCAGGACTGATG 0.582000 8 38 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204236633 204236633 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:204236633G>A ENST00000272203.3 - 5 566 c.250C>T c.(250-252)Ctg>Ttg p.L84L PLEKHA6_ENST00000414478.1_Silent_p.L84L NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 84 PH. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CGATCCACCAGGACGAACCAG 0.582000 25 128 0 0 1 0 0 GFM1 85476 broad.mit.edu 37 3 158383129 158383129 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:158383129G>A ENST00000486715.1 + 12 1741 c.1384G>A c.(1384-1386)Gat>Aat p.D462N GFM1_ENST00000264263.5_Missense_Mutation_p.D481N|GFM1_ENST00000478576.1_Missense_Mutation_p.D462N|GFM1_ENST00000490261.1_3'UTR NM_024996.5 NP_079272.4 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 462 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TTTAAAGAACGATCTGGAAAA 0.313000 4 14 0 0 1 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140866630 140866630 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140866630G>A ENST00000306593.1 + 1 1890 c.1890G>A c.(1888-1890)acG>acA p.T630T PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGCGGACGGCTGTTCCTA 0.527000 3 22 0 0 1 0 0 TMEM105 284186 broad.mit.edu 37 17 79287763 79287763 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:79287763C>T ENST00000332900.1 - 3 627 c.78G>A c.(76-78)gtG>gtA p.V26V NM_178520.3 NP_848615.1 Q8N8V8 TM105_HUMAN transmembrane protein 105 26 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) GCTGCCCGATCACATTTCCTG 0.602000 24 95 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149492394 149492394 + RNA SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:149492394C>T ENST00000378016.2 + 0 6283 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCTGCCCTCCTGGGGGCTCC 0.677000 7 70 0 0 1 0 0 CRYBB1 1414 broad.mit.edu 37 22 27008142 27008142 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr22:27008142C>T ENST00000215939.2 - 3 323 c.193G>A c.(193-195)Gaa>Aaa p.E65K NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 65 Beta/gamma crystallin 'Greek key' 1. visual perception structural constituent of eye lens p.E65K(1) breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 TTTTCCAGTTCGAAGACCACC 0.537000 20 79 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125521583 125521583 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr10:125521583C>T ENST00000241305.3 - 11 1736 c.1582G>A c.(1582-1584)Gac>Aac p.D528N CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 528 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.D528N(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGCACCAGGTCGTAGGGGTAC 0.647000 36 153 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166210819 166210819 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:166210819G>A ENST00000375437.2 + 17 3327 c.3037G>A c.(3037-3039)Gga>Aga p.G1013R SCN2A_ENST00000283256.6_Missense_Mutation_p.G1013R|SCN2A_ENST00000357398.3_Missense_Mutation_p.G1013R|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1013R NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1013 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GATGCAGAAAGGAATCGATTT 0.368000 8 56 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161220127 161220127 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:161220127C>T ENST00000327928.4 + 3 487 c.487C>T c.(487-489)Cca>Tca p.P163S NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 163 Collagen-like 1. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 CCAAGGAGTTCCAGGATACCC 0.423000 3 33 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 4 44 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22915786 22915786 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:22915786G>A ENST00000374644.4 + 5 1474 c.1402G>A c.(1402-1404)Gac>Aac p.D468N EPHA8_ENST00000166244.3_Intron|EPHA8_ENST00000538803.1_Missense_Mutation_p.D468N NM_001006943.1 NP_001006944.1 P29322 EPHA8_HUMAN EPH receptor A8 0 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTCTGCCGGGGACGTGCTGTG 0.622000 7 67 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70637889 70637889 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:70637889C>T ENST00000322773.4 + 5 457 c.355C>T c.(355-357)Ctg>Ttg p.L119L NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 119 TSP N-terminal. FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 ACGGTGGTTTCTGTGGCAGGT 0.423000 3 26 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10861262 10861262 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:10861262G>A ENST00000254488.2 + 2 435 c.369G>A c.(367-369)agG>agA p.R123R SLC6A11_ENST00000454147.1_Silent_p.R123R NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 123 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CGTGTTGGAGGAAAGTTTGCC 0.398000 12 77 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153036993 153036993 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:153036993G>A ENST00000538966.1 + 15 2740 c.2469G>A c.(2467-2469)gcG>gcA p.A823A PLXNB3_ENST00000538776.1_Silent_p.A453A|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.A410A|PLXNB3_ENST00000361971.5_Silent_p.A800A NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 800 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) ACTGCCAAGCGGCCAACAGGA 0.682000 8 31 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31266588 31266588 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr22:31266588C>T ENST00000332585.6 + 3 1130 c.1026C>T c.(1024-1026)atC>atT p.I342I OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000446658.2_Silent_p.I342I|OSBP2_ENST00000403222.3_Silent_p.I177I|OSBP2_ENST00000382310.3_Silent_p.I342I|OSBP2_ENST00000437268.2_Silent_p.I84I|OSBP2_ENST00000407373.1_Silent_p.I169I NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 342 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 GCCTCAAGATCCCATCTGAGA 0.577000 7 49 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155158006 155158006 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:155158006C>T ENST00000392825.3 + 9 1627 c.1060C>T c.(1060-1062)Cct>Tct p.P354S GALNT13_ENST00000409237.1_Missense_Mutation_p.P354S|GALNT13_ENST00000487047.1_3'UTR NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 354 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 ATACACTTTTCCTGGTGGCAC 0.438000 14 116 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090383 115090383 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:115090383C>T ENST00000361283.1 + 3 1375 c.1066C>T c.(1066-1068)Cct>Tct p.P356S NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 356 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding TTCTGTATCTCCTGGACCTTG 0.502000 8 103 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 322179 322179 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:322179G>A ENST00000390665.3 - 2 489 c.471C>T c.(469-471)caC>caT p.H157H NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 157 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGGCCCTCTCGTGGGGGAACC 0.637000 7 74 0 0 1 0 0 PTMA 5757 broad.mit.edu 37 2 232576081 232576081 + Silent SNP T T C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:232576081T>C ENST00000409115.3 + 2 267 c.69T>C c.(67-69)gtT>gtC p.V23V PTMA_ENST00000410064.1_Silent_p.V49V|PTMA_ENST00000409683.1_Silent_p.V23V|PTMA_ENST00000409321.1_Silent_p.V44V|PTMA_ENST00000341369.7_Silent_p.V23V|PTMA_ENST00000466801.1_3'UTR NM_002823.4 NP_002814.3 P06454 PTMA_HUMAN prothymosin, alpha 23 transcription, DNA-dependent nucleus lung(3)|ovary(1)|prostate(1)|skin(1) 6 Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142) Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) AGAAGGAAGTTGTGGAAGAGG 0.502000 6 59 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134618619 134618619 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:134618619G>A ENST00000361675.2 + 5 1328 c.1099G>A c.(1099-1101)Gca>Aca p.A367T CALD1_ENST00000393118.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000422748.1_Intron Q05682 CALD1_HUMAN caldesmon 1 367 3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K. cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 gaaaagggcagcagaggagag 0.507000 3 20 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112676998 112676998 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:112676998G>A ENST00000550722.1 - 34 5105 c.4710C>T c.(4708-4710)ctC>ctT p.L1570L HECTD4_ENST00000430131.2_Silent_p.L1294L|HECTD4_ENST00000377560.5_Silent_p.L1544L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GTCGATCCATGAGCTGCACAA 0.532000 32 165 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1094812 1094812 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:1094812C>T ENST00000441003.2 + 31 5927 c.5900C>T c.(5899-5901)cCt>cTt p.P1967L MUC2_ENST00000333592.6_Missense_Mutation_p.P255L|MUC2_ENST00000361558.6_Missense_Mutation_p.P105L NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 2003 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) AGGCCCTACCCTTCCTCTGTG 0.627000 24 278 0 0 1 0 0 SBK1 388228 broad.mit.edu 37 16 28328854 28328854 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:28328854G>A ENST00000341901.4 + 2 931 c.142G>A c.(142-144)Gac>Aac p.D48N NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 48 cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 GGCCGCCAGCGACGTCACCAA 0.637000 OREG0023701 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 101 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98382600 98382600 + Missense_Mutation SNP A A T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:98382600A>T ENST00000186436.5 - 35 4928 c.4700T>A c.(4699-4701)gTt>gAt p.V1567D NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1567 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GTGAACTGGAACGGAATCCCA 0.507000 10 56 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450805 105450805 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:105450805G>A ENST00000337685.2 + 5 2165 c.1380G>A c.(1378-1380)gaG>gaA p.E460E MUM1L1_ENST00000372552.1_Silent_p.E460E|MUM1L1_ENST00000357175.2_Silent_p.E460E NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 460 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 AAGCCAGGGAGGATTATAGTG 0.358000 6 30 0 0 1 0 0 ZC4H2 55906 broad.mit.edu 37 X 64138925 64138925 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:64138925C>T ENST00000545618.1 - 5 1106 c.543G>A c.(541-543)atG>atA p.M181I ZC4H2_ENST00000337990.2_Missense_Mutation_p.M163I|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Missense_Mutation_p.M186I Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 186 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CACTTACCTTCATAGGTGGGG 0.577000 13 34 0 0 1 0 0 JPH3 57338 broad.mit.edu 37 16 87678630 87678630 + Silent SNP C C T rs140186033 by1000genomes TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:87678630C>T ENST00000284262.2 + 2 1391 c.1149C>T c.(1147-1149)atC>atT p.I383I NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 383 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) AGGCTGAGATCGCGGCTTCCA 0.672000 3 31 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120009253 120009253 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:120009253G>A ENST00000371311.3 - 1 526 c.272C>T c.(271-273)aCg>aTg p.T91M NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 91 p.T91M(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 ctcttcctccGTCGCGGGCCC 0.706000 4 12 0 0 1 0 0 CTSC 1075 broad.mit.edu 37 11 88033712 88033712 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:88033712G>A ENST00000227266.5 - 5 857 c.743C>T c.(742-744)cCt>cTt p.P248L NM_001814.4 NP_001805.3 P53634 CATC_HUMAN cathepsin C 248 immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GTTTCGAACAGGACTGACAAA 0.383000 3 37 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7861237 7861237 + Silent SNP T T C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:7861237T>C ENST00000377532.3 + 7 1082 c.858T>C c.(856-858)ctT>ctC p.L286L PER3_ENST00000377541.1_Silent_p.L285L|PER3_ENST00000361923.2_Silent_p.L285L P56645 PER3_HUMAN period circadian clock 3 285 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GTGTTTTTCTTGAAGTAGATG 0.328000 6 56 0 0 1 0 0 KRT16 3868 broad.mit.edu 37 17 39768903 39768903 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:39768903G>A ENST00000301653.4 - 1 102 c.38C>T c.(37-39)tCc>tTc p.S13F NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 13 Head. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) GCCCTTCATGGAGCTGGAGGA 0.662000 3 26 0 0 1 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140794689 140794689 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140794689C>T ENST00000398610.2 + 1 1947 c.1947C>T c.(1945-1947)gcC>gcT p.A649A PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTAGTGGCCGTCCAGGACC 0.711000 12 119 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71418660 71418660 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:71418660C>T ENST00000356595.4 - 4 1397 c.1187G>A c.(1186-1188)aGa>aAa p.R396K PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000354608.5_Intron NM_198718.1 NP_942011.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 0 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) CATTTCTTCTCTGTTCAGCAC 0.413000 4 78 0 0 1 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725652 106725652 + RNA SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:106725652C>T ENST00000390609.2 - 0 81 GCCCAAACTCCATGGTGAGTT 0.458000 12 148 0 0 1 0 0 SFRP4 6424 broad.mit.edu 37 7 37951873 37951873 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:37951873C>T ENST00000436072.2 - 4 1016 c.639G>A c.(637-639)gaG>gaA p.E213E EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 213 NTR. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CCGTTGTGACCTCATTGCAGC 0.423000 5 44 0 0 1 0 0 FAM65B 9750 broad.mit.edu 37 6 24843463 24843463 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:24843463G>A ENST00000259698.4 - 14 1722 c.1547C>T c.(1546-1548)tCt>tTt p.S516F FAM65B_ENST00000378023.4_Missense_Mutation_p.S466F|FAM65B_ENST00000540914.1_Missense_Mutation_p.S466F|FAM65B_ENST00000538035.1_Missense_Mutation_p.S495F|FAM65B_ENST00000510784.2_Missense_Mutation_p.S500F NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 516 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 GCAAGCCTCAGATGGGGCCGA 0.577000 7 37 0 0 1 0 0 SPNS3 201305 broad.mit.edu 37 17 4349486 4349486 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:4349486C>T ENST00000355530.2 + 4 826 c.546C>T c.(544-546)ccC>ccT p.P182P SPNS3_ENST00000333476.2_Silent_p.P55P|SPNS3_ENST00000576069.1_3'UTR NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 182 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 TCTTTATCCCCGTTGGAAGGT 0.607000 6 144 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183714413 183714413 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr4:183714413C>T ENST00000511685.1 + 26 6711 c.6588C>T c.(6586-6588)ttC>ttT p.F2196F TENM3_ENST00000406950.2_Silent_p.F2196F teneurin transmembrane protein 3 AAGATGGTTTCCTACGTCAAA 0.488000 16 57 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85660250 85660250 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr4:85660250C>T ENST00000322366.6 - 40 6894 c.6487G>A c.(6487-6489)Gaa>Aaa p.E2163K WDFY3_ENST00000295888.4_Missense_Mutation_p.E2163K Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2163 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCTTCTGCTTCCAGTCCAAAT 0.403000 10 45 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107925060 107925060 + Silent SNP C C T rs104886404 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:107925060C>T ENST00000328300.6 + 47 4402 c.4158C>T c.(4156-4158)atC>atT p.I1386I COL4A5_ENST00000361603.2_Silent_p.I1380I NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1380 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CTCCAGGAATCCCTGGCCAGC 0.453000 Alport syndrome with Diffuse Leiomyomatosis 4 10 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159899999 159899999 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:159899999G>A ENST00000368094.1 - 15 2241 c.2044C>T c.(2044-2046)Ctg>Ttg p.L682L IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.L666L NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 682 Fibronectin type-III 2. 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) CCTGGCACCAGCAGCTCTGTT 0.597000 22 135 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104048398 104048398 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:104048398C>T ENST00000388887.2 + 13 1677 c.1473C>T c.(1471-1473)atC>atT p.I491I NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 491 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AAGGGGACATCATTGCTTCCA 0.368000 5 58 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240519181 240519181 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:240519181G>A ENST00000319653.9 + 14 5061 c.4831G>A c.(4831-4833)Gaa>Aaa p.E1611K FMN2_ENST00000545751.1_Missense_Mutation_p.E207K NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1611 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) GCCTTTCAAGGAAAACATGGA 0.318000 6 28 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23863404 23863404 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:23863404G>A ENST00000405093.3 - 21 2628 c.2558C>T c.(2557-2559)aCc>aTc p.T853I MYH6_ENST00000356287.3_Missense_Mutation_p.T853I NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 853 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TTCCTTCATGGTGGCCATCTC 0.572000 25 104 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80789224 80789224 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:80789224G>A ENST00000269394.3 - 2 1940 c.1107C>T c.(1105-1107)gaC>gaT p.D369D ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 369 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TTCTGTTGGGGTCCGAAGGGT 0.557000 18 191 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56243696 56243696 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:56243696C>T ENST00000332836.2 - 2 1528 c.1501G>A c.(1501-1503)Gaa>Aaa p.E501K NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 501 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ACGATTTCTTCTGTTGAAATT 0.453000 20 74 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169362542 169362542 + Missense_Mutation SNP G G A rs34420455 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr4:169362542G>A ENST00000511577.1 - 10 1487 c.1240C>T c.(1240-1242)Cct>Tct p.P414S DDX60L_ENST00000505890.1_Missense_Mutation_p.P414S|DDX60L_ENST00000260184.7_Missense_Mutation_p.P414S Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 414 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) GTTCTCAGAGGAAAAGACTTT 0.373000 8 25 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62327290 62327290 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:62327290C>T ENST00000371158.2 + 19 2504 c.2390C>T c.(2389-2391)tCa>tTa p.S797L INADL_ENST00000316485.6_Missense_Mutation_p.S797L NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 797 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 ACTGAATTTTCAGGAACAATT 0.254000 9 58 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107925061 107925061 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:107925061C>T ENST00000328300.6 + 47 4403 c.4159C>T c.(4159-4161)Cct>Tct p.P1387S COL4A5_ENST00000361603.2_Missense_Mutation_p.P1381S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1381 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCCAGGAATCCCTGGCCAGCC 0.448000 Alport syndrome with Diffuse Leiomyomatosis 3 10 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65347927 65347927 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:65347927C>T ENST00000309295.4 + 6 876 c.611C>T c.(610-612)gCc>gTc p.A204V NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 204 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GCCCCGGAGGCCCGGGCTCGA 0.627000 5 78 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 184008435 184008435 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:184008435C>T ENST00000402825.3 + 15 2100 c.2100C>T c.(2098-2100)ttC>ttT p.F700F ECE2_ENST00000404464.3_Silent_p.F582F|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.F553F|ECE2_ENST00000357474.5_Silent_p.F628F NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 700 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGCCCCCTTCTATGCCCGCA 0.622000 20 154 0 0 1 0 0 F7 2155 broad.mit.edu 37 13 113772793 113772793 + Missense_Mutation SNP C C G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:113772793C>G ENST00000375581.3 + 9 907 c.872C>G c.(871-873)cCc>cGc p.P291R F7_ENST00000541084.1_Missense_Mutation_p.P222R|F7_ENST00000346342.3_Missense_Mutation_p.P269R NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 291 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GTCATCATCCCCAGCACGTAC 0.682000 9 145 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402269 248402269 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:248402269C>T ENST00000306687.1 + 1 39 c.39C>T c.(37-39)atC>atT p.I13I NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) CCATCTTCATCCTGCTGGGAA 0.428000 11 78 0 0 1 0 0 TLK1 9874 broad.mit.edu 37 2 171906377 171906377 + Silent SNP G G T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:171906377G>T ENST00000442919.2 - 10 1398 c.783C>A c.(781-783)ggC>ggA p.G261G TLK1_ENST00000521943.1_Silent_p.G261G|TLK1_ENST00000360843.3_Silent_p.G330G|TLK1_ENST00000431350.2_Silent_p.G309G|TLK1_ENST00000434911.2_Silent_p.G213G NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 309 E -> D (in Ref. 1; BAA20562). cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TAAATGAAGCGCCATGTCTAA 0.368000 3 49 1 1 1 1 0 TMEM189 387521 broad.mit.edu 37 20 48700666 48700666 + Splice_Site SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:48700666C>T ENST00000557021.1 - 7 1126 c.966_splice c.e7+1 p.V322_splice UBE2V1_ENST00000371674.3_Splice_Site_p.V99_splice|UBE2V1_ENST00000371677.3_Splice_Site_p.V122_splice|TMEM189-UBE2V1_ENST00000341698.2_Splice_Site_p.V322_splice|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000340309.3_Splice_Site_p.V122_splice|UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000415862.2_Splice_Site_p.V55_splice|UBE2V1_ENST00000420027.2_Splice_Site_p.V55_splice NM_199203.2 NP_954673.1 transmembrane protein 189 breast(1)|endometrium(2)|large_intestine(3)|lung(2) 8 BRCA - Breast invasive adenocarcinoma(9;3.02e-07) AACAACTTACCACTCCATTAG 0.388000 7 39 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186648534 186648534 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:186648534C>T ENST00000367468.5 - 2 225 c.89G>A c.(88-90)gGt>gAt p.G30D PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 30 EGF-like. cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) CATACATACACCTCGGTTTTG 0.388000 8 47 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103909754 103909754 + Silent SNP T T C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr10:103909754T>C ENST00000278070.2 + 14 5002 c.4963T>C c.(4963-4965)Ttg>Ctg p.L1655L PPRC1_ENST00000370012.1_Silent_p.L622L|PPRC1_ENST00000413464.2_Silent_p.L1391L NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1655 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGACACATTGTTGAAACAGGC 0.488000 20 79 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28877902 28877902 + Nonsense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:28877902C>T ENST00000337120.5 + 1 3778 c.487C>T c.(487-489)Cga>Tga p.R163* SH2B1_ENST00000359285.5_Nonsense_Mutation_p.R163*|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000322610.8_Nonsense_Mutation_p.R163*|SH2B1_ENST00000395532.4_Nonsense_Mutation_p.R163* NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 163 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 TCGCTCTGTCCGAGGCTCAGT 0.657000 16 96 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453134 140453134 + Missense_Mutation SNP T T C rs121913377 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:140453134T>C ENST00000288602.6 - 15 1861 c.1801A>G c.(1801-1803)Aaa>Gaa p.K601E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 601 Protein kinase. K -> E (in colorectal cancer).|K -> Q (in CFC syndrome). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CATCGAGATTTCACTGTAGCT 0.368000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 8 40 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881430 33881430 + Missense_Mutation SNP T T C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:33881430T>C ENST00000504830.1 - 2 618 c.283A>G c.(283-285)Att>Gtt p.I95V ADAMTS12_ENST00000515401.1_Missense_Mutation_p.I95V|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.I95V NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 95 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 TCGTGAGAAATTCTGTAGTAC 0.458000 HNSCC(64;0.19) 30 108 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42281705 42281705 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:42281705C>T ENST00000399518.3 - 15 2117 c.1631G>A c.(1630-1632)gGg>gAg p.G544E PLA2G4E_ENST00000413860.2_Missense_Mutation_p.G515E|CTD-2382E5.1_ENST00000499478.2_RNA NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 532 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GATGAAGGCCCCATACTTCTG 0.612000 OREG0023079 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 42 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585410 70585410 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:70585410G>A ENST00000260126.3 - 10 2947 c.2241C>T c.(2239-2241)ttC>ttT p.F747F SLCO5A1_ENST00000530307.1_Silent_p.F692F|SLCO5A1_ENST00000524945.1_3'UTR NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 747 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TAAACCCAACGAATTTGAGGC 0.488000 10 78 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16217066 16217066 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:16217066G>A ENST00000339732.5 + 1 911 c.408G>A c.(406-408)ggG>ggA p.G136G GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Silent_p.G136G NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 GGGACTGGGGGGCTGATGAGG 0.637000 9 29 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75693124 75693124 + Missense_Mutation SNP G G T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:75693124G>T ENST00000394947.3 - 11 1998 c.1684C>A c.(1684-1686)Cca>Aca p.P562T SIN3A_ENST00000394949.4_Missense_Mutation_p.P562T|SIN3A_ENST00000360439.4_Missense_Mutation_p.P562T NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 562 Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130. P -> G (in Ref. 4; AAK95854). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 TAACTCTTTGGTAAGGCTCGA 0.493000 3 30 0.004672 0.0047243 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34174715 34174715 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:34174715C>T ENST00000373381.4 - 22 3726 c.3550G>A c.(3550-3552)Gaa>Aaa p.E1184K CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.E57K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1144 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCGGAGAGTTCGAATGCCCTG 0.438000 15 104 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3115487 3115487 + Nonsense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:3115487G>A ENST00000263650.7 - 15 1858 c.1699C>T c.(1699-1701)Cag>Tag p.Q567* OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.Q478*|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.Q499*|OSBPL5_ENST00000478260.1_Nonsense_Mutation_p.Q21*|OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.Q499*|OSBPL5_ENST00000542243.1_Nonsense_Mutation_p.Q198* NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 567 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AATTCCAGCTGGGCCTGGAAG 0.597000 8 43 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76739017 76739017 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr10:76739017C>T ENST00000287239.4 + 10 2640 c.2151C>T c.(2149-2151)ggC>ggT p.G717G KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Silent_p.G425G|KAT6B_ENST00000372714.1_Silent_p.G425G|KAT6B_ENST00000372711.1_Silent_p.G534G|KAT6B_ENST00000372725.1_Silent_p.G425G NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 717 Negatively regulates HAT activity. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding AAGACTGTGGCCGGTACCCTT 0.383000 7 36 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197391051 197391051 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:197391051G>A ENST00000367397.1 + 2 1094 c.236G>A c.(235-237)tGc>tAc p.C79Y CRB1_ENST00000535699.1_Missense_Mutation_p.C629Y|CRB1_ENST00000367400.3_Missense_Mutation_p.C698Y|CRB1_ENST00000538660.1_Missense_Mutation_p.C698Y|CRB1_ENST00000367399.2_Missense_Mutation_p.C586Y|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.C179Y P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 698 EGF-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CAGTGTGACTGCCACAGGCCC 0.517000 4 47 0 0 1 0 0 CHMP7 91782 broad.mit.edu 37 8 23112815 23112815 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:23112815C>T ENST00000397677.1 + 4 1175 c.527C>T c.(526-528)cCc>cTc p.P176L CHMP7_ENST00000313219.7_Missense_Mutation_p.P176L NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 176 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TCCTCCCACCCCGTGGTGGCC 0.582000 10 74 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31642763 31642763 + Missense_Mutation SNP T T A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:31642763T>A ENST00000399332.1 - 5 1341 c.853A>T c.(853-855)Aca>Tca p.T285S HECTD1_ENST00000553700.1_Missense_Mutation_p.T285S NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 285 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CTGCAAAGTGTTGAGAGCAGA 0.393000 20 79 0 0 1 0 0 ACER2 340485 broad.mit.edu 37 9 19450564 19450564 + Nonsense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:19450564G>A ENST00000340967.2 + 6 784 c.758G>A c.(757-759)tGg>tAg p.W253* NM_001010887.2 NP_001010887.2 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 253 ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 13 AATGAGAAATGGGCCTTCATT 0.512000 10 76 0 0 1 0 0 CCDC138 165055 broad.mit.edu 37 2 109463245 109463245 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:109463245G>A ENST00000295124.4 + 12 1435 c.1375G>A c.(1375-1377)Gga>Aga p.G459R CCDC138_ENST00000412964.2_Missense_Mutation_p.G459R NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 459 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 CATTTTTAAAGGAGTGGTAAC 0.348000 6 43 0 0 1 0 0 UBXN7 26043 broad.mit.edu 37 3 196098779 196098779 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:196098779G>A ENST00000296328.4 - 6 677 c.603C>T c.(601-603)ttC>ttT p.F201F UBXN7_ENST00000535858.1_Silent_p.F53F|UBXN7_ENST00000428095.1_Silent_p.F39F NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 201 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GCCAGAAAATGAAATGTTCCC 0.383000 16 118 0 0 1 0 0 UBA7 7318 broad.mit.edu 37 3 49850559 49850559 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:49850559C>T ENST00000333486.3 - 4 561 c.403G>A c.(403-405)Gtg>Atg p.V135M UBA7_ENST00000494212.1_5'UTR NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 135 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AAGGTGCCCACCTTCAGCTGC 0.582000 16 54 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14488280 14488280 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:14488280C>T ENST00000344204.4 + 48 7567 c.7543C>T c.(7543-7545)Cgc>Tgc p.R2515C TRIO_ENST00000537187.1_Intron NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2515 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GCAGACACCCCGCCACGCGGC 0.711000 7 31 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117138988 117138988 + Missense_Mutation SNP G G C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:117138988G>C ENST00000307564.4 - 3 1260 c.1099C>G c.(1099-1101)Cgg>Ggg p.R367G AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.R286G|AKNA_ENST00000374088.3_Missense_Mutation_p.R367G|AKNA_ENST00000312033.3_Missense_Mutation_p.R367G NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R367W(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 AATCTCACCCGGGGCCCTACC 0.607000 4 36 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19483608 19483608 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:19483608C>T ENST00000507958.1 - 14 2674 c.1684G>A c.(1684-1686)Gat>Aat p.D562N CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.D562N|CDH18_ENST00000274170.4_Missense_Mutation_p.D562N|CDH18_ENST00000502796.1_Intron Q13634 CAD18_HUMAN cadherin 18, type 2 562 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D562Y(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TAATACACATCCTGAACAGTT 0.468000 7 60 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054720 29054720 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:29054720G>A ENST00000377173.2 - 1 370 c.306C>T c.(304-306)atC>atT p.I102I NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 CCAGGAAGATGATGAGGTGGG 0.468000 15 91 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49722209 49722209 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:49722209C>T ENST00000449682.2 - 15 2092 c.1731G>A c.(1729-1731)ggG>ggA p.G577G AC099668.5_ENST00000563780.1_RNA NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 563 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGCCTGAGGGCCCACACACCA 0.612000 10 70 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886617 228886617 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:228886617G>A ENST00000392056.3 - 6 553 c.507C>T c.(505-507)aaC>aaT p.N169N SPHKAP_ENST00000344657.5_Silent_p.N169N NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 169 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) AGATGATGCAGTTGGTACTGT 0.443000 7 31 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21730787 21730787 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:21730787G>A ENST00000388958.3 + 16 1769 c.1768G>A c.(1768-1770)Gat>Aat p.D590N OTOA_ENST00000388956.4_Missense_Mutation_p.D511N|OTOA_ENST00000388957.3_Missense_Mutation_p.D266N|OTOA_ENST00000286149.4_Missense_Mutation_p.D604N NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 604 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) CCATTTCCAGGATTTTCAGAA 0.498000 6 81 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480755 140480755 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140480755G>A ENST00000231130.2 + 1 522 c.522G>A c.(520-522)ccG>ccA p.P174P AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 174 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) CTATCACTCCGAATTCCCACT 0.507000 10 104 0 0 1 0 0 ELP2 55250 broad.mit.edu 37 18 33744557 33744557 + Missense_Mutation SNP G G C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr18:33744557G>C ENST00000358232.6 + 18 1944 c.1881G>C c.(1879-1881)aaG>aaC p.K627N ELP2_ENST00000423854.2_Missense_Mutation_p.K557N|ELP2_ENST00000442325.2_Missense_Mutation_p.K692N|ELP2_ENST00000542824.1_Missense_Mutation_p.K557N|ELP2_ENST00000350494.6_Missense_Mutation_p.K622N|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000351393.6_Missense_Mutation_p.K601N NM_018255.2 NP_060725.1 Q6IA86 ELP2_HUMAN elongator acetyltransferase complex subunit 2 627 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2) 30 CTAATGAGAAGTTCTTACTAG 0.423000 5 54 0 0 1 0 0 MOSPD3 64598 broad.mit.edu 37 7 100212779 100212779 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:100212779C>T ENST00000393950.2 + 5 963 c.681C>T c.(679-681)ctC>ctT p.L227L MOSPD3_ENST00000424091.2_Silent_p.L217L|MOSPD3_ENST00000379527.2_Silent_p.L227L|MOSPD3_ENST00000223054.4_Silent_p.L227L NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 227 integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CTCCAGGCCTCCTCACCATGG 0.632000 15 106 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248790279 248790279 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:248790279G>A ENST00000330803.2 - 1 212 c.151C>T c.(151-153)Cgc>Tgc p.R51C NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 51 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) GTGTGGAGGCGAGAGTCCACC 0.498000 23 87 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247040329 247040329 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:247040329G>A ENST00000366508.1 - 23 3101 c.2965C>T c.(2965-2967)Ctt>Ttt p.L989F AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.L954F|AHCTF1_ENST00000326225.3_Missense_Mutation_p.L963F Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 954 cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TGCACTAAAAGGAATTCATGA 0.348000 4 38 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131231325 131231325 + Missense_Mutation SNP C C G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:131231325C>G ENST00000298542.4 - 4 428 c.253G>C c.(253-255)Gac>Cac p.D85H FRMD7_ENST00000464296.1_Missense_Mutation_p.D70H NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 85 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TGTCCAGGGTCCACTGGGAAA 0.358000 39 98 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14488216 14488216 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:14488216C>T ENST00000344204.4 + 48 7503 c.7479C>T c.(7477-7479)ccC>ccT p.P2493P TRIO_ENST00000537187.1_Intron NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2493 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CCGCCTCCCCCGCCAGCCGAC 0.716000 6 33 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13754425 13754425 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:13754425C>T ENST00000265104.4 - 62 10546 c.10442G>A c.(10441-10443)cGa>cAa p.R3481Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3481 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTGTCTGCATCGCTCTGCATC 0.418000 Kartagener syndrome 10 65 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20443887 20443887 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:20443887C>T ENST00000305051.5 + 1 285 c.210C>T c.(208-210)atC>atT p.I70I NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TTCTCATCATCCTCACTGTGA 0.443000 5 34 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150746324 150746324 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:150746324G>A ENST00000357922.4 + 1 946 c.352G>A c.(352-354)Gat>Aat p.D118N ASIC3_ENST00000349064.5_Missense_Mutation_p.D118N|ASIC3_ENST00000297512.8_Missense_Mutation_p.D118N NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 118 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity GCTGGGCCTGGATCCCGCAGA 0.687000 19 76 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26115904 26115904 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:26115904C>T ENST00000313735.6 - 4 482 c.249G>A c.(247-249)cgG>cgA p.R83R NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 83 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TCCTCACATGCCGTGGGGAGG 0.527000 16 232 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31593226 31593226 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:31593226C>T ENST00000379416.3 - 18 2023 c.1975G>A c.(1975-1977)Gat>Aat p.D659N NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 659 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 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) CTTACCTTATCCTTCGCAAAG 0.348000 6 37 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74309493 74309493 + Missense_Mutation SNP A A C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:74309493A>C ENST00000377044.4 - 21 4167 c.3628T>G c.(3628-3630)Tac>Gac p.Y1210D TMEM2_ENST00000396272.3_Missense_Mutation_p.Y203D|TMEM2_ENST00000377066.5_Missense_Mutation_p.Y1147D NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 1210 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ACAGGGAGGTAACTTTTATGA 0.423000 12 43 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112940491 112940491 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:112940491G>A ENST00000331203.2 + 6 1065 c.794G>A c.(793-795)gGg>gAg p.G265E FBLN7_ENST00000409667.3_Intron|FBLN7_ENST00000409903.1_Missense_Mutation_p.G265E|FBLN7_ENST00000409450.3_Missense_Mutation_p.G219E NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 265 EGF-like 2; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CTGGCTGACGGGAAGAGCTGT 0.662000 4 134 0 0 1 0 0 TRIM50 135892 broad.mit.edu 37 7 72730583 72730583 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:72730583G>A ENST00000333149.2 - 6 1055 c.855C>T c.(853-855)ctC>ctT p.L285L TRIM50_ENST00000453152.1_Silent_p.L285L NM_178125.2 NP_835226.1 Q86XT4 TRI50_HUMAN tripartite motif containing 50 285 B30.2/SPRY. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 CTTTCCGGAAGAGCCTTTTCC 0.592000 12 60 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149226818 149226818 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:149226818C>T ENST00000407073.1 + 9 2303 c.1306C>T c.(1306-1308)Cct>Tct p.P436S MBD5_ENST00000404807.1_Missense_Mutation_p.P436S NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 436 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CTCCCTGTCCCCTTCTCCAGT 0.488000 3 21 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53513522 53513522 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:53513522G>A ENST00000357758.3 - 12 2766 c.2583C>T c.(2581-2583)caC>caT p.H861H DDHD1_ENST00000395606.1_Silent_p.H868H|DDHD1_ENST00000323669.5_Silent_p.H889H NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 889 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) CATCATCATCGTGCTCATGTT 0.398000 7 66 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536101 31536101 + Silent SNP G G A rs148262601 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr22:31536101G>A ENST00000215885.3 - 1 492 c.240C>T c.(238-240)acC>acT p.T80T NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 80 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 CGTAGGCTGCGGTGAGCTCCG 0.632000 12 80 0 0 1 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 555569 555569 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:555569G>A ENST00000262305.4 + 8 1829 c.1441G>A c.(1441-1443)Gca>Aca p.A481T RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.A185T|RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.A526T NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) 481 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) AAAGGACACGGCAGCCACCGG 0.642000 8 18 0 0 1 0 0 CCL11 6356 broad.mit.edu 37 17 32614164 32614164 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:32614164C>T ENST00000305869.3 + 2 267 c.126C>T c.(124-126)ccC>ccT p.P42P NM_002986.2 NP_002977.1 P51671 CCL11_HUMAN chemokine (C-C motif) ligand 11 42 cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction extracellular space chemokine activity breast(1)|lung(1)|prostate(1) 3 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) GGAAGATACCCCTTCAGCGAC 0.433000 4 58 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174541 150174541 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:150174541G>A ENST00000307271.3 + 5 2245 c.1671G>A c.(1669-1671)acG>acA p.T557T NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 557 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CAGACTTTACGAAATACGCGA 0.493000 26 92 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50278624 50278624 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr18:50278624C>T ENST00000442544.2 + 2 908 c.292C>T c.(292-294)Ctg>Ttg p.L98L DCC_ENST00000412726.1_5'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 98 Ig-like C2-type 1. 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) TGGGTCTCTGCTGATACAAAA 0.458000 7 62 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24135199 24135199 + Missense_Mutation SNP C C T rs139055681 byFrequency TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:24135199C>T ENST00000303531.7 + 9 1114 c.962C>T c.(961-963)aCg>aTg p.T321M PRKCB_ENST00000321728.7_Missense_Mutation_p.T321M NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 321 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GAAGAAAAGACGACCAACACT 0.483000 13 61 0 0 1 0 0 ATPAF1 64756 broad.mit.edu 37 1 47134006 47134008 + In_Frame_Del DEL CCT CCT - TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:47134006_47134008delCCT ENST00000576409.1 - 1 118_120 c.56_58delAGG c.(55-60)gcg>g p.EA19del ATPAF1_ENST00000371937.4_5'UTR|ATPAF1_ENST00000525633.1_Intron|ATPAF1_ENST00000574428.1_5'UTR|EFCAB14_ENST00000544071.1_Intron|ATPAF1_ENST00000329231.4_In_Frame_Del_p.EA19del Q5TC12 ATPF1_HUMAN ATP synthase mitochondrial F1 complex assembly factor 1 0 protein complex assembly mitochondrion protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Acute lymphoblastic leukemia(166;0.155) GCCGCCCCCGCCTCCTCCTCCTC 0.803 2 4 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) 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) TTCCGGGTCATCCTCCTCCTCCT 0.631 8 295 --- --- --- --- AC004870.3 0 broad.mit.edu 37 7 47103506 47103508 + RNA DEL TCT TCT - TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:47103506_47103508delTCT ENST00000412996.1 - 0 52 ctcctcctcctcttcctctactc 0.576 2 4 --- --- --- --- LINC00854 100874261 broad.mit.edu 37 17 41381913 41381914 + RNA INS - - T rs11403368 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:41381913_41381914insT ENST00000433702.2 - 0 14 NR_047479.1 accctgatctatcatcgggagg 0.550 3 3 --- --- --- --- DDX5 1655 broad.mit.edu 37 17 62496834 62496835 + Frame_Shift_Ins INS - - A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:62496834_62496835insA ENST00000225792.5 - 12 1674_1675 c.1273_1274insT c.(1273-1275)tatfs p.Y425fs DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Frame_Shift_Ins_p.Y346fs|DDX5_ENST00000578804.1_Frame_Shift_Ins_p.Y425fs NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 425 Helicase C-terminal. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) TCGATGAATATAATCCTCTGAG 0.396 T ETV4 prostate 17 127 --- --- --- --- LOC63930 63930 broad.mit.edu 37 20 61680604 61680605 + RNA INS - - T rs79562152 by1000genomes TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:61680604_61680605insT ENST00000607802.1 + 0 91 RP11-305P22.5_ENST00000455711.1_lincRNA NR_033370.1 tcctcttcctctcctcctcctc 0.609 2 4 --- --- --- ---