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 AKR7A3 22977 broad.mit.edu 37 1 19611245 19611245 + Frame_Shift_Del DEL G G - TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr1:19611245delG uc001bbv.1 - 4 716 c.639delC c.(637-639)gacfs p.D213fs NM_012067 NP_036199 O95154 ARK73_HUMAN Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA. 213 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCCCATTCTTGTCCTCATACT 0.597 SLC1A7 6512 broad.mit.edu 37 1 53559217 53559217 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr1:53559217C>T uc021onn.1 - 5 881 c.713G>A c.(712-714)cGc>cAc p.R238H SLC1A7_uc021onm.1_Missense_Mutation_p.R166H|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Missense_Mutation_p.R238H|SLC1A7_uc021ono.1_Non-coding_Transcript NM_006671 NP_006662 O00341 EAA5_HUMAN Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA. 238 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.R238C(1) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GTCACCCATGCGGCCCAGCAT 0.617 ODF2L 57489 broad.mit.edu 37 1 86838137 86838137 + Missense_Mutation SNP T T A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr1:86838137T>A uc001dll.2 - 8 1259 c.897A>T c.(895-897)gaA>gaT p.E299D ODF2L_uc001dlp.3_Missense_Mutation_p.E299D|ODF2L_uc010osg.2_Missense_Mutation_p.E299D|ODF2L_uc001dlm.2_Missense_Mutation_p.E299D|ODF2L_uc021opg.1_Missense_Mutation_p.E168D|ODF2L_uc001dlq.2_Missense_Mutation_p.E129D|ODF2L_uc009wcr.2_Missense_Mutation_p.E168D NM_001007022 NP_001007023 Q9ULJ1 ODF2L_HUMAN Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA. 299 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) CAATCTGTACTTCCAATTCGG 0.259 SPAG17 200162 broad.mit.edu 37 1 118574428 118574428 + Missense_Mutation SNP C C A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr1:118574428C>A uc001ehk.2 - 24 3564 c.3496G>T c.(3496-3498)Gtt>Ttt p.V1166F NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1166 cilium|flagellar axoneme|microtubule p.V1165V(1) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ATAACAGGAACCACTGTTGGA 0.353 FCER1A 2205 broad.mit.edu 37 1 159272655 159272655 + Missense_Mutation SNP G G A rs142162478 TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr1:159272655G>A uc001ftq.3 + 2 164 c.67G>A c.(67-69)Gtg>Atg p.V23M NM_002001 NP_001992 P12319 FCERA_HUMAN Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA. 23 integral to plasma membrane p.G22V(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TCCAGATGGCGTGTTAGCAGG 0.463 PLA2G4A 5321 broad.mit.edu 37 1 186863266 186863266 + Missense_Mutation SNP A A T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr1:186863266A>T uc001gsc.3 + 4 506 c.301A>T c.(301-303)Act>Tct p.T101S PLA2G4A_uc010pos.2_Missense_Mutation_p.T101S NM_024420 NP_077734 P47712 PA24A_HUMAN Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA. 101 C2.|Phospholipid binding (Probable). phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity p.E100*(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) CATGGATGAAACTCTAGGGAC 0.328 MIA3 375056 broad.mit.edu 37 1 222833136 222833136 + Missense_Mutation SNP A A G TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr1:222833136A>G uc001hnl.3 + 21 4876 c.4867A>G c.(4867-4869)Aga>Gga p.R1623G MIA3_uc001hnm.3_Missense_Mutation_p.R501G NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA. 1623 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TGCCAATTTGAGACACAAGTA 0.358 ARMC4 55130 broad.mit.edu 37 10 28228843 28228843 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr10:28228843C>T uc009xky.3 - 13 2178 c.2080G>A c.(2080-2082)Gcc>Acc p.A694T ARMC4_uc010qds.2_Missense_Mutation_p.A219T|ARMC4_uc010qdt.2_Missense_Mutation_p.A386T|ARMC4_uc001itz.3_Missense_Mutation_p.A694T NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 694 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ATGGCCATGGCGCAGTGCTCC 0.458 HNRNPF 3185 broad.mit.edu 37 10 43882701 43882701 + Missense_Mutation SNP T T C TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr10:43882701T>C uc009xmh.1 - 2 1119 c.632A>G c.(631-633)gAc>gGc p.D211G HNRNPF_uc001jar.2_Missense_Mutation_p.D211G|HNRNPF_uc001jas.2_Missense_Mutation_p.D211G|HNRNPF_uc001jat.2_Missense_Mutation_p.D211G|HNRNPF_uc001jav.2_Missense_Mutation_p.D211G|HNRNPF_uc001jau.2_Missense_Mutation_p.D211G|HNRNPF_uc021ppg.1_Missense_Mutation_p.D211G|HNRNPF_uc010qfa.1_Missense_Mutation_p.V128A NM_001098208 NP_004957 P52597 HNRPF_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA. 211 regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 CCCGGGCCGGTCATAGGGCCC 0.592 PTEN 5728 broad.mit.edu 37 10 89717695 89717696 + Frame_Shift_Ins INS - - T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr10:89717695_89717696insT uc001kfb.3 + 6 1752_1753 c.720_721insT c.(718-723)tactttfs p.Y240fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 240 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.Y240*(3)|p.F241L(2)|p.F241S(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241fs*1(2)|p.F241fs*17(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.K237_Y240>N(1)|p.F241fs*15(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGTTCATGTACTTTGAGTTCCC 0.411 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PI4K2A 55361 broad.mit.edu 37 10 99426254 99426254 + Missense_Mutation SNP G G T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr10:99426254G>T uc001kog.1 + 6 1201 c.1144G>T c.(1144-1146)Gat>Tat p.D382Y PI4K2A_uc010qoy.1_Missense_Mutation_p.D352Y|PI4K2A_uc009xvw.1_Intron NM_018425 NP_060895 Q9BTU6 P4K2A_HUMAN Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA. 382 PI3K/PI4K. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) GGAGATCAAAGATCTGATCCT 0.468 BTRC 8945 broad.mit.edu 37 10 103190197 103190197 + Silent SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr10:103190197C>T uc001kta.3 + 1 257 c.144C>T c.(142-144)ctC>ctT p.L48L BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.3_Intron|BTRC_uc001ktc.3_Silent_p.L48L NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA. 48 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CTGGCGCACTCACAGCTTTCC 0.527 DMBT1 1755 broad.mit.edu 37 10 124345651 124345651 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr10:124345651G>A uc001lgk.1 + 15 1641 c.1535G>A c.(1534-1536)cGa>cAa p.R512Q DMBT1_uc001lgl.1_Missense_Mutation_p.R502Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R512Q|DMBT1_uc021qag.1_Missense_Mutation_p.R502Q|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R512Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 512 SRCR 4. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTCCTATACCGAGGCTCCTGG 0.592 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5625849 5625849 + Missense_Mutation SNP C C A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr11:5625849C>A uc001mbf.3 + 2 856 c.593C>A c.(592-594)aCa>aAa p.T198K HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.T144K|TRIM6-TRIM34_uc010qzj.2_5'UTR|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.T170K|TRIM6-TRIM34_uc001mbe.3_5'UTR|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.T198K|TRIM6-TRIM34_uc010qzk.2_5'UTR|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank NM_001003819 NP_067629 B2RNG4 B2RNG4_HUMAN Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA. 198 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) GAGAAGAAAACATCCTGGAAG 0.468 COPB1 1315 broad.mit.edu 37 11 14498486 14498486 + Missense_Mutation SNP C C A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr11:14498486C>A uc001mlh.2 - 11 1680 c.1434G>T c.(1432-1434)gaG>gaT p.E478D COPB1_uc001mli.2_Missense_Mutation_p.E478D|COPB1_uc001mlg.2_Missense_Mutation_p.E478D|U7_uc021qee.1_5'Flank NM_001144061 NP_057535 P53618 COPB_HUMAN Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA. 478 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 ACCTGCGGATCTCAGTCATCA 0.373 KCNA4 3739 broad.mit.edu 37 11 30033178 30033178 + Missense_Mutation SNP A A T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr11:30033178A>T uc021qfi.1 - 0 1048 c.1048T>A c.(1048-1050)Ttg>Atg p.L350M KCNA4_uc001msk.3_Missense_Mutation_p.L350M NM_002233 NP_002224 P22459 KCNA4_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA. 350 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TCATTCAACAACCCACCATGC 0.478 LRP4 4038 broad.mit.edu 37 11 46900805 46900805 + Missense_Mutation SNP T T C TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr11:46900805T>C uc001ndn.4 - 20 3119 c.2876A>G c.(2875-2877)tAt>tGt p.Y959C NM_002334 NP_002325 O75096 LRP4_HUMAN Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA. 959 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GTCAGTCCAATAGATGCGCTC 0.567 MS4A15 219995 broad.mit.edu 37 11 60531221 60531221 + Silent SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr11:60531221C>T uc009ynf.1 + 1 235 c.15C>T c.(13-15)ccC>ccT p.P5P MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Silent_p.P5P NM_001098835 NP_689930 Q8N5U1 M4A15_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA. 5 integral to membrane receptor activity breast(1)|large_intestine(2)|lung(3) 6 CTGCAGCTCCCGCCAGCAATG 0.527 PGA5 5222 broad.mit.edu 37 11 61018718 61018718 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr11:61018718G>A uc001nqz.3 + 8 1187 c.1132G>A c.(1132-1134)Gca>Aca p.A378T NM_014224 NP_055039 P00790 PEPA_HUMAN Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA. 378 digestion|proteolysis extracellular region aspartic-type endopeptidase activity large_intestine(1)|skin(1) 2 CTTCGACAGGGCAAACAACCA 0.557 MMP27 64066 broad.mit.edu 37 11 102573550 102573550 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr11:102573550G>A uc001phd.1 - 3 576 c.553C>T c.(553-555)Cct>Tct p.P185S NM_022122 NP_071405 Q9H306 MMP27_HUMAN Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA. 185 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CCCGGACCAGGAGGAAAGGCA 0.458 DSCAML1 57453 broad.mit.edu 37 11 117342628 117342628 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr11:117342628C>T uc001prh.1 - 14 3091 c.3089G>A c.(3088-3090)cGc>cAc p.R1030H NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 970 Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGGTTCACTGCGGCCAATCTT 0.587 DPPA3 359787 broad.mit.edu 37 12 7869602 7869602 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr12:7869602G>A uc001qtf.3 + 3 487 c.409G>A c.(409-411)Gtg>Atg p.V137M NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA. 137 cytoplasm|nucleus p.V137M(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) CAGTTTCTGCGTGTCTAATGG 0.378 CLEC4E 26253 broad.mit.edu 37 12 8689778 8689778 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr12:8689778G>A uc001quo.1 - 3 470 c.305C>T c.(304-306)gCg>gTg p.A102V NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA. 102 C-type lectin. integral to membrane sugar binding p.W101C(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) TAAACTTAACGCCCAGGAAAT 0.458 ABCC9 10060 broad.mit.edu 37 12 21991021 21991021 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr12:21991021C>T uc001rfh.3 - 27 3577 c.3557G>A c.(3556-3558)cGg>cAg p.R1186Q ABCC9_uc001rfi.1_Missense_Mutation_p.R1186Q NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1186 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.R1186L(3) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCTAAAGGCCCGAATGGTGGT 0.423 ADCY6 112 broad.mit.edu 37 12 49164592 49164592 + Silent SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr12:49164592C>T uc001rsh.4 - 18 3873 c.3213G>A c.(3211-3213)aaG>aaA p.K1071K ADCY6_uc001rsi.4_Silent_p.K1018K|ADCY6_uc001rsj.4_Silent_p.K1071K|ADCY6_uc010slw.1_3'UTR NM_015270 NP_056085 O43306 ADCY6_HUMAN Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA. 1071 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CATTGATGTGCTTCATCTGCT 0.552 CACNB3 784 broad.mit.edu 37 12 49221583 49221583 + Silent SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr12:49221583G>A uc001rsl.2 + 12 1815 c.1356G>A c.(1354-1356)ggG>ggA p.G452G CACNB3_uc010sly.2_Silent_p.G439G|CACNB3_uc010slz.2_Silent_p.G451G|CACNB3_uc001rsk.2_Silent_p.G299G|CACNB3_uc021qxm.1_Silent_p.G411G NM_000725 NP_000716 P54284 CACB3_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA. 452 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) GTGCTAACGGGCATGACCCCC 0.622 TUBA1B 10376 broad.mit.edu 37 12 49523423 49523423 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr12:49523423C>T uc001rtm.3 - 1 307 c.86G>A c.(85-87)gGc>gAc p.G29D TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_5'UTR NM_006082 NP_006073 P68363 TBA1B_HUMAN Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA. 29 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 GGGCTGGATGCCGTGTTCCAG 0.582 KRT1 3848 broad.mit.edu 37 12 53072002 53072002 + Missense_Mutation SNP T T C TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr12:53072002T>C uc001sau.1 - 2 871 c.812A>G c.(811-813)gAg>gGg p.E271G KRT1_uc001sav.1_Missense_Mutation_p.E271G NM_006121 NP_006112 P04264 K2C1_HUMAN Homo sapiens keratin 1 (KRT1), mRNA. 271 Coil 1B.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.E271Q(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 GATTTCATCCTCATACCTGCA 0.403 TRHDE 29953 broad.mit.edu 37 12 73046818 73046818 + Missense_Mutation SNP T T A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr12:73046818T>A uc001sxa.3 + 16 2761 c.2731T>A c.(2731-2733)Tct>Act p.S911T NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 911 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GTCACTGAATTCTGAGGTGGT 0.343 NUDT4 11163 broad.mit.edu 37 12 93792556 93792556 + Nonsense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr12:93792556C>T uc010sup.2 + 3 666 c.268C>T c.(268-270)Cga>Tga p.R90* NUDT4_uc001tcm.3_Nonsense_Mutation_p.R89*|NUDT4_uc001tcn.3_Nonsense_Mutation_p.R37*|NUDT4_uc010suq.2_Nonsense_Mutation_p.R38*|NUDT4_uc001tco.3_Nonsense_Mutation_p.R37* NM_199040 NP_950241 Q9NZJ9 NUDT4_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA. 89 Nudix hydrolase.|Substrate binding (By similarity). calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding endometrium(2)|kidney(1)|lung(2) 5 GAACCAAGACCGAAAGCACAG 0.343 MTERFD3 80298 broad.mit.edu 37 12 107371336 107371336 + Silent SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr12:107371336C>T uc001tme.1 - 1 2976 c.1157G>A c.(1156-1158)tGa>tAa p.*386* MTERFD3_uc001tmf.1_Silent_p.*386*|MTERFD3_uc001tmg.1_Silent_p.*386*|MTERFD3_uc021rdh.1_Splice_Site_p.*386_splice|MTERFD3_uc001tmh.1_Splice_Site NM_025198 NP_079474 Q49AM1 MTER3_HUMAN Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA. 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding breast(1)|kidney(1)|large_intestine(2)|lung(3) 7 GTCAGTATGTCATTCTTCAAC 0.358 WSCD2 9671 broad.mit.edu 37 12 108603986 108603986 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr12:108603986G>A uc001tms.3 + 3 1330 c.586G>A c.(586-588)Gac>Aac p.D196N WSCD2_uc001tmt.3_Missense_Mutation_p.D196N NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN Homo sapiens WSC domain containing 2 (WSCD2), mRNA. 196 WSC 1. integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GGCAGAGTGCGACATGGAGTG 0.682 TUBA3C 7278 broad.mit.edu 37 13 19752451 19752451 + Missense_Mutation SNP C C T rs145210942 TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr13:19752451C>T uc009zzj.3 - 2 415 c.310G>A c.(310-312)Gcc>Acc p.A104T NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 104 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.Y103*(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TGGCCTCTGGCGTAATTATTG 0.532 FLT3 2322 broad.mit.edu 37 13 28636176 28636176 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr13:28636176C>T uc001urw.3 - 2 278 c.196G>A c.(196-198)Gcg>Acg p.A66T FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.A66T NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 66 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.A66A(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GGTCTCAACGCACACCCGAGG 0.532 """Mis, O""" """AML, ALL""" SUCLA2 8803 broad.mit.edu 37 13 48571116 48571116 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr13:48571116C>T uc001vbs.3 - 1 190 c.133G>A c.(133-135)Gta>Ata p.V45I SUCLA2_uc010tgb.2_5'UTR|SUCLA2_uc010tgc.2_5'UTR|SUCLA2_uc010tgd.2_5'UTR NM_003850 NP_003841 Q9P2R7 SUCB1_HUMAN Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA. 45 succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4) 15 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) TGCTGCTGTACTTGGAGTCCA 0.403 KLF5 688 broad.mit.edu 37 13 73636601 73636601 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr13:73636601G>A uc001vje.3 + 1 1188 c.864G>A c.(862-864)atG>atA p.M288I KLF5_uc001vjd.3_Missense_Mutation_p.M197I NM_001730 NP_001721 Q13887 KLF5_HUMAN Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA. 288 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) CATACACAATGCCAAGTCAGT 0.522 FOXG1 2290 broad.mit.edu 37 14 29237185 29237185 + Missense_Mutation SNP T T G TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr14:29237185T>G uc001wqe.3 + 0 899 c.700T>G c.(700-702)Tcc>Gcc p.S234A NM_005249 NP_005240 P55316 FOXG1_HUMAN Homo sapiens forkhead box G1 (FOXG1), mRNA. 234 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CCACAATCTGTCCCTCAACAA 0.587 SIPA1L1 26037 broad.mit.edu 37 14 72176033 72176033 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr14:72176033G>A uc001xms.3 + 14 4284 c.3923G>A c.(3922-3924)cGc>cAc p.R1308H SIPA1L1_uc001xmt.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R1308H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R762H NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 1308 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GATGGGGACCGCACAGAATCC 0.537 AHNAK2 113146 broad.mit.edu 37 14 105413876 105413876 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr14:105413876C>T uc010axc.1 - 6 8032 c.7912G>A c.(7912-7914)Gac>Aac p.D2638N AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D2538N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 2638 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACACCCTTGTCGGCCAGGGAC 0.602 SPG11 80208 broad.mit.edu 37 15 44858195 44858195 + Nonsense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr15:44858195G>A uc001ztx.3 - 37 6887 c.6856C>T c.(6856-6858)Cga>Tga p.R2286* SPG11_uc010bdw.3_Nonsense_Mutation_p.R416*|SPG11_uc010ueh.2_Nonsense_Mutation_p.R2173*|SPG11_uc010uei.2_Intron NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA. 2286 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TGGGCCTGTCGCACACAGGAG 0.532 ACSM2A 123876 broad.mit.edu 37 16 20492203 20492203 + Missense_Mutation SNP A A T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr16:20492203A>T uc010bwe.3 + 12 1708 c.1469A>T c.(1468-1470)gAg>gTg p.E490V ACSM2A_uc010vax.1_Missense_Mutation_p.E411V|ACSM2A_uc002dhf.4_Missense_Mutation_p.E490V|ACSM2A_uc002dhg.4_Missense_Mutation_p.E490V|ACSM2A_uc010vay.2_Missense_Mutation_p.E411V|ACSM2A_uc002dhh.4_Missense_Mutation_p.E120V NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 490 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GCTGTGGTTGAGACGGCTGTG 0.562 DNAH3 55567 broad.mit.edu 37 16 21128600 21128600 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr16:21128600C>T uc010vbe.2 - 11 1738 c.1738G>A c.(1738-1740)Gca>Aca p.A580T DNAH3_uc002die.2_Missense_Mutation_p.A520T NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 580 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTTTCTTCTGCGTTAACAGTT 0.358 CHP2 63928 broad.mit.edu 37 16 23768582 23768582 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr16:23768582C>T uc002dmb.1 + 5 898 c.475C>T c.(475-477)Cgc>Tgc p.R159C NM_022097 NP_071380 O43745 CHP2_HUMAN Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA. 159 EF-hand 4. calcium ion binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) CATCGCTGACCGCACGGTGCA 0.577 SLC38A7 55238 broad.mit.edu 37 16 58709937 58709937 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr16:58709937C>T uc002eod.1 - 7 1183 c.790G>A c.(790-792)Gtc>Atc p.V264I SLC38A7_uc002eoc.1_Missense_Mutation_p.V264I|SLC38A7_uc010vil.1_Missense_Mutation_p.V175I|SLC38A7_uc002eoe.1_Missense_Mutation_p.V264I NM_018231 NP_060701 Q9NVC3 S38A7_HUMAN Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA. 264 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 CTGTTGAAGACGGGCACACTG 0.572 ATP2A3 489 broad.mit.edu 37 17 3840720 3840720 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr17:3840720C>T uc002fwy.2 - 14 2484 c.2311G>A c.(2311-2313)Gag>Aag p.E771K ATP2A3_uc002fwz.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxa.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxb.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxc.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxd.2_Missense_Mutation_p.E771K|ATP2A3_uc002fwx.2_Missense_Mutation_p.E771K NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 771 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CAGACGACCTCGCCAACATTG 0.602 C17orf59 54785 broad.mit.edu 37 17 8092644 8092645 + Missense_Mutation DNP CC CC AA TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr17:8092644_8092645CC>AA uc010vut.2 - 0 920_921 c.814_815GG>TT c.(814-816)gga>TTa p.G272L NM_017622 NP_060092 Q96GS4 CQ059_HUMAN Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA. 272 large_intestine(2)|lung(3)|urinary_tract(1) 6 CACCCGGCCTCCCAGCTCCCGA 0.703 TAOK1 57551 broad.mit.edu 37 17 27778581 27778593 + Frame_Shift_Del DEL CAGAGCAGGCAGC CAGAGCAGGCAGC - TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr17:27778581_27778593delCAGAGCAGGCAGC uc002hdz.2 + 1 209_221 c.15_27delCAGAGCAGGCAGC c.(13-27)aacagagcaggcagcfs p.N5fs TAOK1_uc010wbe.2_Frame_Shift_Del_p.N5fs NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA. 5 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) CATCAACTAACAGAGCAGGCAGCCTGAAGGACC 0.460 LAMA1 284217 broad.mit.edu 37 18 6965403 6965403 + Missense_Mutation SNP C C A rs141811330 TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr18:6965403C>A uc002knm.3 - 49 7173 c.7079G>T c.(7078-7080)cGt>cTt p.R2360L LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Missense_Mutation_p.R1836L NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2360 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACTCTGCCACGAAACAGCTC 0.443 AFG3L2 10939 broad.mit.edu 37 18 12351333 12351333 + Silent SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr18:12351333C>T uc002kqz.2 - 10 1592 c.1398G>A c.(1396-1398)ccG>ccA p.P466P NM_006796 NP_006787 Q9Y4W6 AFG32_HUMAN Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA. 466 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) CGAAACGCCCCGGCCTAAGCA 0.463 TMPRSS9 360200 broad.mit.edu 37 19 2418090 2418090 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:2418090G>A uc010xgx.2 + 11 2006 c.2006G>A c.(2005-2007)cGc>cAc p.R669H NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA. 669 Peptidase S1 2. 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) CTCACAGACCGCATGATCTGC 0.557 ZNF358 140467 broad.mit.edu 37 19 7585507 7585507 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:7585507G>A uc002mgn.2 + 1 1549 c.1379G>A c.(1378-1380)cGc>cAc p.R460H ZNF358_uc021unu.1_Missense_Mutation_p.R460H|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN Homo sapiens zinc finger protein 358 (ZNF358), mRNA. 460 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 agctctggccgcaaccctgac 0.667 ICAM1 3383 broad.mit.edu 37 19 10394191 10394191 + Silent SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:10394191C>T uc002mnq.2 + 2 685 c.366C>T c.(364-366)ccC>ccT p.P122P ICAM1_uc010xle.1_Intron NM_000201 NP_000192 P05362 ICAM1_HUMAN Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA. 122 adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CACCCCTCCCCTCTTGGCAGC 0.637 MAN2B1 4125 broad.mit.edu 37 19 12759205 12759205 + Missense_Mutation SNP C C G TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:12759205C>G uc002mub.2 - 20 2524 c.2448G>C c.(2446-2448)agG>agC p.R816S MAN2B1_uc010dyv.1_Missense_Mutation_p.R815S NM_000528 NP_000519 O00754 MA2B1_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA. 816 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CCTTCAGCAGCCTTCGGTGCA 0.652 EMR2 30817 broad.mit.edu 37 19 14865775 14865775 + Silent SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:14865775G>A uc002mzp.1 - 13 2037 c.1581C>T c.(1579-1581)taC>taT p.Y527Y EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Silent_p.Y516Y|EMR2_uc002mzq.1_Silent_p.Y467Y|EMR2_uc002mzr.1_Silent_p.Y478Y|EMR2_uc002mzs.1_Silent_p.Y385Y|EMR2_uc002mzt.1_Silent_p.Y423Y|EMR2_uc002mzu.1_Silent_p.Y434Y|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Intron NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA. 527 GPS. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 CCTGCACATCGTAGTGGGCCA 0.527 UBA52 7311 broad.mit.edu 37 19 18684505 18684505 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:18684505C>T uc002njr.3 + 2 251 c.137C>T c.(136-138)gCc>gTc p.A46V UBA52_uc002njs.3_Missense_Mutation_p.A46V|UBA52_uc021uqs.1_5'Flank NM_001033930 NP_003324 P62987 RL40_HUMAN Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), transcript variant 1, mRNA. 46 Ubiquitin-like. 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|endocrine pancreas development|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|translational elongation|translational termination|viral transcription cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome protein binding|structural constituent of ribosome endometrium(1)|large_intestine(2) 3 CTGATATTTGCCGGCAAACAG 0.597 ZNF98 148198 broad.mit.edu 37 19 22575722 22575722 + Silent SNP T T C TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:22575722T>C uc002nqt.2 - 3 437 c.315A>G c.(313-315)caA>caG p.Q105Q NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN Homo sapiens zinc finger protein 98 (ZNF98), mRNA. 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F104I(1) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GTATCACTTTTTGGAAATAAT 0.299 GPATCH1 55094 broad.mit.edu 37 19 33585093 33585093 + Silent SNP C C T rs149673951 TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:33585093C>T uc002nug.1 + 4 785 c.471C>T c.(469-471)ttC>ttT p.F157F NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN Homo sapiens G patch domain containing 1 (GPATCH1), mRNA. 157 G-patch. catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) CTGTTGGTTTCGAATTGCTAA 0.393 NPHS1 4868 broad.mit.edu 37 19 36336653 36336653 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:36336653G>A uc002oby.3 - 12 1831 c.1675C>T c.(1675-1677)Ccg>Tcg p.P559S NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 559 Ig-like C2-type 6. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCGTCTCCCGGGCGCAGTGCG 0.622 PLEKHG2 64857 broad.mit.edu 37 19 39913516 39913516 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:39913516G>A uc010xuz.2 + 17 2147 c.1822G>A c.(1822-1824)Ggg>Agg p.G608R PLEKHG2_uc010xuy.2_Missense_Mutation_p.G549R|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.G386R NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 608 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGATGAACGGGGGCCTTCCCC 0.587 C5AR1 728 broad.mit.edu 37 19 47823297 47823297 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:47823297C>T uc002pgj.1 + 1 312 c.263C>T c.(262-264)gCg>gTg p.A88V NM_001736 NP_001727 P21730 C5AR_HUMAN Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA. 88 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) TCCTGCCTGGCGCTGCCCATC 0.602 SHANK1 50944 broad.mit.edu 37 19 51205832 51205832 + Missense_Mutation SNP G G A rs148526987 TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:51205832G>A uc002psx.1 - 10 1658 c.1639C>T c.(1639-1641)Cgg>Tgg p.R547W NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 547 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AGCTTCCTCCGCCTCCCGCGG 0.711 CD33 945 broad.mit.edu 37 19 51729289 51729289 + Missense_Mutation SNP G G A rs150408980 byFrequency TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:51729289G>A uc002pwa.2 + 2 689 c.649G>A c.(649-651)Gct>Act p.A217T CD33_uc010eos.1_Missense_Mutation_p.A217T|CD33_uc010eot.1_Missense_Mutation_p.A90T|CD33_uc010eou.1_Non-coding_Transcript NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 217 Ig-like C2-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) GGTGAAGTTCGCTGGAGCTGG 0.622 PEG3 5178 broad.mit.edu 37 19 57326473 57326473 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:57326473C>T uc002qnu.2 - 6 3688 c.3337G>A c.(3337-3339)Ggc>Agc p.G1113S PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1084S|PEG3_uc002qnv.2_Missense_Mutation_p.G1113S|PEG3_uc002qnw.2_Missense_Mutation_p.G989S|PEG3_uc002qnx.2_Missense_Mutation_p.G987S|PEG3_uc010etr.2_Missense_Mutation_p.G1113S NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1113 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AAGCCCAGGCCACAGTCCTCA 0.488 ZNF543 125919 broad.mit.edu 37 19 57839653 57839653 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr19:57839653C>T uc002qoi.2 + 3 1180 c.823C>T c.(823-825)Cgg>Tgg p.R275W NM_213598 NP_998763 Q08ER8 ZN543_HUMAN Homo sapiens zinc finger protein 543 (ZNF543), mRNA. 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ACGGCACCAGCGGATTCACAG 0.527 USP39 10713 broad.mit.edu 37 2 85863233 85863233 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr2:85863233G>A uc002sqe.3 + 6 1043 c.1007G>A c.(1006-1008)gGc>gAc p.G336D USP39_uc002sqb.3_Missense_Mutation_p.G67D|USP39_uc010ysu.2_Missense_Mutation_p.G258D|USP39_uc010ysv.2_Missense_Mutation_p.G233D|USP39_uc010fgn.1_Missense_Mutation_p.G336D|USP39_uc002sqg.3_Missense_Mutation_p.G336D|USP39_uc010fgo.3_Missense_Mutation_p.G336D NM_006590 NP_006581 Q53GS9 SNUT2_HUMAN Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA. 336 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 GCTCTGGGGGGCACAAAGAAG 0.423 IGKV2-19 28925 broad.mit.edu 37 2 89434503 89434503 + Splice_Site SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr2:89434503G>A uc021vkt.1 - 44 c.4522_splice c.e44-1 abParts_uc021vku.1_Intron Parts of antibodies, mostly variable regions. AAACCCCAACGTCCTCAGCCT 0.507 TTN 7273 broad.mit.edu 37 2 179631234 179631234 + Nonsense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr2:179631234G>A uc021vsy.1 - 40 9802 c.9577C>T c.(9577-9579)Cga>Tga p.R3193* TTN_uc021vsz.1_Nonsense_Mutation_p.R3147*|TTN_uc021vta.1_Nonsense_Mutation_p.R3147*|TTN_uc021vtb.1_Nonsense_Mutation_p.R3147*|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Nonsense_Mutation_p.R3193* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 3193 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R3147*(6)|p.R3193*(5)|p.P3192L(1) 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) TATTTGTGTCGTTCTTGAACT 0.423 RSPO4 343637 broad.mit.edu 37 20 948682 948682 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr20:948682C>T uc002wej.3 - 1 279 c.179G>A c.(178-180)cGg>cAg p.R60Q RSPO4_uc002wek.3_Missense_Mutation_p.R60Q NM_001029871 NP_001025042 Q2I0M5 RSPO4_HUMAN Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA. 60 Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GATGCCTTCCCGGCGGATGAA 0.622 PROKR2 128674 broad.mit.edu 37 20 5283318 5283318 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr20:5283318C>T uc010zqw.2 - 1 531 c.523G>A c.(523-525)Gcc>Acc p.A175T PROKR2_uc010zqx.2_Missense_Mutation_p.A175T|PROKR2_uc010zqy.2_Missense_Mutation_p.A175T NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 175 integral to membrane|plasma membrane neuropeptide Y receptor activity p.A175S(4)|p.I174N(1)|p.I174I(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CAGACCAAGGCGATCAGGAAG 0.493 HNSCC(71;0.22) PROKR2 128674 broad.mit.edu 37 20 5294853 5294853 + Missense_Mutation SNP C C T rs146963803 by1000genomes TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr20:5294853C>T uc010zqw.2 - 0 171 c.163G>A c.(163-165)Gtc>Atc p.V55I PROKR2_uc010zqx.2_Missense_Mutation_p.V55I|PROKR2_uc010zqy.2_Missense_Mutation_p.V55I|AX746654_uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 55 integral to membrane|plasma membrane neuropeptide Y receptor activity p.I54I(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 ATGCCAATGACGATCTTGGCT 0.517 HNSCC(71;0.22) PCSK2 5126 broad.mit.edu 37 20 17434533 17434533 + Silent SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr20:17434533C>T uc002wpm.3 + 8 1386 c.1032C>T c.(1030-1032)gaC>gaT p.D344D PCSK2_uc002wpl.3_Silent_p.D325D|PCSK2_uc010zrm.2_Silent_p.D309D NM_002594 NP_001188457 P16519 NEC2_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA. 344 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity p.D344D(2)|p.Y343Y(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCTGTACGACGAGAGCTGCT 0.597 TPTE 7179 broad.mit.edu 37 21 10951332 10951332 + Missense_Mutation SNP C C T rs113140892 byFrequency TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr21:10951332C>T uc002yip.1 - 9 748 c.380G>A c.(379-381)cGt>cAt p.R127H TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R109H|TPTE_uc002yir.1_Missense_Mutation_p.R89H|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 127 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R126Q(1)|p.R126*(1)|p.R109H(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGAAATAGAACGATACTCCAA 0.338 ITGB2 3689 broad.mit.edu 37 21 46320316 46320316 + Silent SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr21:46320316G>A uc002zgd.2 - 5 860 c.816C>T c.(814-816)gaC>gaT p.D272D ITGB2_uc002zgf.3_Silent_p.D272D|ITGB2_uc011afl.1_Silent_p.D194D|ITGB2_uc010gpw.2_Silent_p.D215D|ITGB2_uc002zgg.2_Silent_p.D272D NM_001127491 NP_001120963 P05107 ITB2_HUMAN Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA. 272 VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) CCAGCTTCCCGTCGCCCGCGA 0.632 ZNF280B 140883 broad.mit.edu 37 22 22842526 22842526 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr22:22842526C>T uc002zwc.1 - 3 1974 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.E400K NM_080764 NP_542942 Q86YH2 Z280B_HUMAN Homo sapiens zinc finger protein 280B (ZNF280B), mRNA. 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G399G(1) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TAGGGCATTTCGCCAGGCTTA 0.433 ZNF280A 129025 broad.mit.edu 37 22 22868784 22868784 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr22:22868784C>T uc002zwe.3 - 1 1424 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.E391K NM_080740 NP_542778 P59817 Z280A_HUMAN Homo sapiens zinc finger protein 280A (ZNF280A), mRNA. 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E391K(2) endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TAGGGCATTTCGCCAGGCTTA 0.453 AP1B1 162 broad.mit.edu 37 22 29754763 29754763 + Missense_Mutation SNP C C A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr22:29754763C>A uc003afj.3 - 4 664 c.477G>T c.(475-477)caG>caT p.Q159H AP1B1_uc003afl.3_Missense_Mutation_p.Q159H|AP1B1_uc003afi.3_Missense_Mutation_p.Q159H NM_001127 NP_001118 Q10567 AP1B1_HUMAN Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA. 159 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CCAGGAAGCCCTGGTCCTCCA 0.597 CYP2D7P1 1564 broad.mit.edu 37 22 42538870 42538870 + Missense_Mutation SNP A A C rs2982057 by1000genomes TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr22:42538870A>C uc003bci.3 - 2 475 c.94T>G c.(94-96)Tcg>Gcg p.S32A CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA. endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687 CPT1B 1375 broad.mit.edu 37 22 51008725 51008725 + Silent SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr22:51008725G>A uc003bmm.3 - 16 2238 c.2139C>T c.(2137-2139)ggC>ggT p.G713G CPT1B_uc003bmk.4_Silent_p.G713G|CPT1B_uc003bml.3_Silent_p.G713G|CPT1B_uc003bmo.3_Silent_p.G713G|CPT1B_uc011asa.2_Silent_p.G679G|CPT1B_uc003bmn.3_Silent_p.G713G|CPT1B_uc011asb.2_Silent_p.G632G|CPT1B_uc003bmp.3_Silent_p.G508G|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_5'Flank NM_004377 NP_689452 Q92523 CPT1B_HUMAN Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 713 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity p.G713G(2)|p.G713S(1) central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) CACTCACAGGGCCAAAGCCAC 0.652 MKRN2 23609 broad.mit.edu 37 3 12616291 12616291 + Missense_Mutation SNP A A G TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr3:12616291A>G uc003bxd.3 + 5 699 c.643_splice c.e5-1 p.I215_splice MKRN2_uc011aus.2_Splice_Site_p.I172_splice NM_014160 NP_054879 Q9H000 MKRN2_HUMAN Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA. 215 Makorin-type Cys-His. intracellular ligase activity|nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 TGTGCTTCAGATCTGCATGTT 0.542 MST1R 4486 broad.mit.edu 37 3 49940348 49940348 + Missense_Mutation SNP A A T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr3:49940348A>T uc003cxy.4 - 0 959 c.695T>A c.(694-696)tTt>tAt p.F232Y MST1R_uc011bdc.2_Missense_Mutation_p.F232Y|MST1R_uc011bdd.2_Missense_Mutation_p.F232Y|MST1R_uc011bde.1_Missense_Mutation_p.F232Y|MST1R_uc011bdf.1_Missense_Mutation_p.F232Y|MST1R_uc011bdg.2_Missense_Mutation_p.F232Y NM_002447 NP_002438 Q04912 RON_HUMAN Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA. 232 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CAACGCCACAAAGCCCGGTGC 0.577 CACNA1D 776 broad.mit.edu 37 3 53837549 53837549 + Nonsense_Mutation SNP T T G TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr3:53837549T>G uc003dgv.4 + 43 5698 c.5535T>G c.(5533-5535)taT>taG p.Y1845* CACNA1D_uc003dgu.4_Nonsense_Mutation_p.Y1865*|CACNA1D_uc003dgy.4_Nonsense_Mutation_p.Y1821*|CACNA1D_uc003dgw.4_Nonsense_Mutation_p.Y1512*|CACNA1D_uc011bes.2_Non-coding_Transcript NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 1845 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) AGCAGGAGTATTTCAGTAGTG 0.597 NPHP3 84129 broad.mit.edu 37 3 132360955 132360955 + Missense_Mutation SNP G G C TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr3:132360955G>C uc003eov.4 - 3 778 c.398C>G c.(397-399)aCa>aGa p.T133R NM_032169 NP_115545 Q7Z494 NPHP3_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA. 0 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCCAGGAATTGTTAAATCACG 0.378 RNF168 165918 broad.mit.edu 37 3 196229875 196229876 + Frame_Shift_Del DEL CG CG - TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr3:196229875_196229876delCG uc003fwq.3 - 0 764_765 c.169_170delCG c.(169-171)cggfs p.R57fs RNF168_uc010iah.3_5'UTR NM_152617 NP_689830 Q8IYW5 RN168_HUMAN Homo sapiens ring finger protein 168 (RNF168), mRNA. 57 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) CGACGATACCCGGCGGCGACAG 0.545 ABCG2 9429 broad.mit.edu 37 4 89053763 89053763 + Silent SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr4:89053763G>A uc003hrg.3 - 2 721 c.228C>T c.(226-228)aaC>aaT p.N76N ABCG2_uc003hrh.3_Silent_p.N76N|ABCG2_uc003hrf.3_5'Flank|ABCG2_uc003hri.1_Silent_p.N76N|ABCG2_uc003hrj.1_Silent_p.N76N|ABCG2_uc003hrk.1_Silent_p.N76N NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA. 76 ABC transporter. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) CCAGGATGGCGTTGAGACCAG 0.393 UNC5C 8633 broad.mit.edu 37 4 96256705 96256705 + Missense_Mutation SNP G G C TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr4:96256705G>C uc003hto.3 - 1 555 c.202C>G c.(202-204)Cct>Gct p.P68A UNC5C_uc010ilc.2_Missense_Mutation_p.P68A|UNC5C_uc003htq.3_Missense_Mutation_p.P68A NM_003728 NP_003719 O95185 UNC5C_HUMAN Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA. 68 Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCTTCTTCAGGCTCAATAAGG 0.418 PDHA2 5161 broad.mit.edu 37 4 96762205 96762205 + Nonsense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr4:96762205C>T uc003htr.4 + 0 967 c.904C>T c.(904-906)Cga>Tga p.R302* NM_005390 NP_005381 P29803 ODPAT_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA. 302 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TTATCGTACACGAGAAGAAAT 0.423 ADAD1 132612 broad.mit.edu 37 4 123317517 123317517 + Missense_Mutation SNP T T C TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr4:123317517T>C uc003ieo.3 + 6 941 c.709T>C c.(709-711)Ttt>Ctt p.F237L ADAD1_uc003iep.3_Missense_Mutation_p.F237L|ADAD1_uc003ieq.3_Missense_Mutation_p.F219L NM_139243 NP_001152767 Q96M93 ADAD1_HUMAN Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA. 237 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 ATTGGCTGCTTTTATAATTGA 0.279 RASGRF2 5924 broad.mit.edu 37 5 80382758 80382758 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr5:80382758C>T uc003kha.2 + 8 1426 c.1376C>T c.(1375-1377)aCg>aTg p.T459M RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.T287M NM_006909 NP_008840 O14827 RGRF2_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA. 459 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ACCAGCCAAACGTTCATCCGC 0.532 SLC22A5 6584 broad.mit.edu 37 5 131729923 131729923 + Missense_Mutation SNP G G T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr5:131729923G>T uc003kwx.4 + 10 1969 c.1705G>T c.(1705-1707)Ggt>Tgt p.G569C SLC22A5_uc003kww.4_Missense_Mutation_p.G545C NM_003060 NP_003051 O76082 S22A5_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA. 545 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GTTAAAAGATGGTCAAGAAAG 0.393 PCDHGC5 56102 broad.mit.edu 37 5 140751480 140751480 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr5:140751480G>A uc003ljw.2 + 0 1519 c.1519G>A c.(1519-1521)Gtg>Atg p.V507M PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.V507M|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 509 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACGTGTCCGTGAGCGCGCG 0.667 GRM6 2916 broad.mit.edu 37 5 178408768 178408768 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr5:178408768C>T uc003mjr.3 - 9 2703 c.2524G>A c.(2524-2526)Gtc>Atc p.V842I GRM6_uc003mjq.3_Missense_Mutation_p.V245I NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 842 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AAGAGGATGACGTAGGTTTTG 0.587 LRFN2 57497 broad.mit.edu 37 6 40359728 40359728 + Missense_Mutation SNP C C T rs146316351 byFrequency TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr6:40359728C>T uc003oph.1 - 2 2789 c.2324G>A c.(2323-2325)cGg>cAg p.R775Q NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 775 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AAAAGTCCCCCGGGCCCCCAC 0.607 TTBK1 84630 broad.mit.edu 37 6 43222352 43222352 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr6:43222352C>T uc003ouq.1 + 5 818 c.539C>T c.(538-540)gCc>gTc p.A180V NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA. 180 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) TTCGGGCTGGCCCGGCAGTAC 0.652 DEFB114 245928 broad.mit.edu 37 6 49928132 49928132 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr6:49928132C>T uc011dwp.2 - 1 83 c.83G>A c.(82-84)cGt>cAt p.R28H NM_001037499 NP_001032588 Q30KQ6 DB114_HUMAN Homo sapiens defensin, beta 114 (DEFB114), mRNA. 28 defense response to bacterium extracellular region p.R28C(1) kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Lung NSC(77;0.042) TTTGGTGCAACGATCAGCATT 0.353 SYNJ2 8871 broad.mit.edu 37 6 158483053 158483053 + Silent SNP C C T rs142499089 TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr6:158483053C>T uc003qqx.2 + 7 1090 c.984C>T c.(982-984)ggC>ggT p.G328G SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Silent_p.G328G|SYNJ2_uc003qqy.2_Silent_p.G91G|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.G277G|SYNJ2_uc003qqz.2_5'UTR NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 328 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding p.A327V(1) biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GCCACGCGGGCGACACGCCTA 0.567 CARD11 84433 broad.mit.edu 37 7 2953020 2953020 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:2953020G>A uc003smv.3 - 21 3254 c.2920C>T c.(2920-2922)Cgc>Tgc p.R974C NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 974 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) ACGGGCCGGCGGCGCTCGCAG 0.652 Mis DLBCL CCDC129 223075 broad.mit.edu 37 7 31682505 31682505 + Silent SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:31682505G>A uc011kae.2 + 10 1611 c.1599G>A c.(1597-1599)ctG>ctA p.L533L CCDC129_uc011kad.1_Silent_p.L517L|CCDC129_uc003tcj.1_Silent_p.L507L|CCDC129_uc003tci.1_Silent_p.L358L|CCDC129_uc003tck.1_Silent_p.L415L NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA. 507 p.L359L(1)|p.L507L(1) cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 AAGAGTTTCTGCTTGAGGCCA 0.532 AEBP1 165 broad.mit.edu 37 7 44146386 44146386 + Silent SNP G G A rs144974496 TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:44146386G>A uc003tkb.3 + 1 800 c.495G>A c.(493-495)ccG>ccA p.P165P NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN Homo sapiens AE binding protein 1 (AEBP1), mRNA. 165 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 AGAAGCCCCCGTCAGGGAAGA 0.652 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G G C rs139236063 TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:55233043G>C uc003tqk.3 + 14 2039 c.1793G>C c.(1792-1794)gGa>gCa p.G598A EGFR_uc003tqi.3_Missense_Mutation_p.G598A|EGFR_uc003tqj.3_Missense_Mutation_p.G598A|EGFR_uc022adm.1_Missense_Mutation_p.G598A|EGFR_uc010kzg.2_Missense_Mutation_p.G553A|EGFR_uc022adn.1_Missense_Mutation_p.G553A|EGFR_uc011kco.2_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 598 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(31)|p.A597T(1)|p.A597P(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55268064 55268064 + Silent SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:55268064C>T uc003tqk.3 + 23 3150 c.2904C>T c.(2902-2904)ttC>ttT p.F968F EGFR_uc022adm.1_Silent_p.F968F|EGFR_uc010kzg.2_Silent_p.F923F|EGFR_uc022adn.1_Silent_p.F923F|EGFR_uc011kco.2_Silent_p.F915F NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 968 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.F968L(2) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCATCGAATTCTCCAAAATGG 0.478 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55268067 55268067 + Silent SNP C C G TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:55268067C>G uc003tqk.3 + 23 3153 c.2907C>G c.(2905-2907)tcC>tcG p.S969S EGFR_uc022adm.1_Silent_p.S969S|EGFR_uc010kzg.2_Silent_p.S924S|EGFR_uc022adn.1_Silent_p.S924S|EGFR_uc011kco.2_Silent_p.S916S NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 969 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.F968L(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCGAATTCTCCAAAATGGCCC 0.483 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) CHCHD2 51142 broad.mit.edu 37 7 56170668 56170670 + In_Frame_Del DEL GCT GCT - TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:56170668_56170670delGCT uc003tsa.3 - 2 416_418 c.335_337delAGC c.(334-339)cagcct>cct p.Q112del PSPH_uc003trj.3_Intron NM_016139 NP_057223 Q9Y6H1 CHCH2_HUMAN Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA. 112 CHCH. mitochondrion endometrium(1)|large_intestine(1)|lung(3) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TAGAGGCAAGGCTGCTGCTGCTG 0.488 CALN1 83698 broad.mit.edu 37 7 71252855 71252855 + Missense_Mutation SNP C C T rs144352678 by1000genomes TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:71252855C>T uc003twb.4 - 6 1082 c.691G>A c.(691-693)Gtc>Atc p.V231I CALN1_uc003twa.4_Missense_Mutation_p.V189I|CALN1_uc003twc.4_Missense_Mutation_p.V189I NM_031468 NP_001017440 Q9BXU9 CABP8_HUMAN Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA. 189 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding p.V189I(1) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) CTCTTCCGGACGCAGGTCTGT 0.537 SEMA3E 9723 broad.mit.edu 37 7 83032082 83032082 + Nonsense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:83032082G>A uc003uhy.2 - 9 1630 c.1009C>T c.(1009-1011)Cga>Tga p.R337* SEMA3E_uc022agy.1_Nonsense_Mutation_p.R277* NM_012431 NP_001171600 O15041 SEM3E_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA. 337 Sema. axon guidance extracellular space|membrane receptor activity p.R337*(2) breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) GCATGCCCTCGAAAAATATTA 0.403 ABCB4 5244 broad.mit.edu 37 7 87074204 87074204 + Missense_Mutation SNP A A G TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:87074204A>G uc003uiv.1 - 9 1169 c.1093T>C c.(1093-1095)Tat>Cat p.Y365H ABCB4_uc003uiw.1_Missense_Mutation_p.Y365H|ABCB4_uc003uix.1_Missense_Mutation_p.Y365H NM_018849 NP_061337 P21439 MDR3_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA. 365 cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) AAGATCACATATGCTGCTCCT 0.343 COL1A2 1278 broad.mit.edu 37 7 94054949 94054949 + Missense_Mutation SNP G G T rs72659309 TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:94054949G>T uc003ung.1 + 42 3280 c.2809G>T c.(2809-2811)Ggt>Tgt p.G937C COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 937 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging p.G937S(2)|p.P936S(1) COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGTCCCCCAGGTCGCGATGG 0.478 HNSCC(75;0.22) CUX1 1523 broad.mit.edu 37 7 101926060 101926060 + Silent SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:101926060C>T uc003uyt.3 + 21 2086 c.1959C>T c.(1957-1959)tgC>tgT p.C653C CUX1_uc003uyw.3_Silent_p.C607C|CUX1_uc003uyv.3_Silent_p.C637C|CUX1_uc003uyu.3_Silent_p.C651C|CUX1_uc011kkn.2_Silent_p.C614C|SH2B2_uc011kko.2_5'Flank NM_001913 NP_001904 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA. 0 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 CCACCTTCTGCGCCAAGAAGT 0.662 SVOPL 136306 broad.mit.edu 37 7 138305873 138305873 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr7:138305873G>A uc011kqh.2 - 12 1271 c.1271C>T c.(1270-1272)cCc>cTc p.P424L SVOPL_uc003vue.3_Missense_Mutation_p.P272L NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA. 424 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CATCGTGGTGGGGTAGACCTG 0.587 EPPK1 83481 broad.mit.edu 37 8 144940353 144940353 + Missense_Mutation SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr8:144940353C>T uc003zaa.1 - 0 7082 c.7069G>A c.(7069-7071)Gtg>Atg p.V2357M NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2357 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCCACGGGCACGCGGTGGCTG 0.692 OR13C5 138799 broad.mit.edu 37 9 107361451 107361452 + Frame_Shift_Del DEL GC GC - TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chr9:107361451_107361452delGC uc011lvp.2 - 0 243_244 c.243_244delGC c.(241-246)acgctafs p.T81fs NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA. 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AAGCTCACTAGCGTGGAGGGAA 0.510 MAGEB1 4112 broad.mit.edu 37 X 30268850 30268850 + Silent SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chrX:30268850C>T uc022buh.1 + 0 240 c.240C>T c.(238-240)gaC>gaT p.D80D MAGEB1_uc004dcc.3_Silent_p.D80D|MAGEB1_uc004dcd.3_Silent_p.D80D|MAGEB1_uc004dce.3_Silent_p.D80D NM_177415 NP_803134 P43366 MAGB1_HUMAN Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA. 80 NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 CCGAATCTGACGAAGGTGCCA 0.557 ZNF157 7712 broad.mit.edu 37 X 47272323 47272323 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chrX:47272323G>A uc004dhr.1 + 3 920 c.851G>A c.(850-852)cGt>cAt p.R284H NM_003446 NP_003437 P51786 ZN157_HUMAN Homo sapiens zinc finger protein 157 (ZNF157), mRNA. 284 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 AAAACATTTCGTGTAAAGATA 0.443 SUV39H1 6839 broad.mit.edu 37 X 48564987 48564987 + Silent SNP C C T TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chrX:48564987C>T uc004dkn.3 + 4 1119 c.1074C>T c.(1072-1074)ggC>ggT p.G358G SUV39H1_uc011mmf.2_Silent_p.G369G|SUV39H1_uc011mmg.2_Non-coding_Transcript NM_003173 NP_003164 O43463 SUV91_HUMAN Homo sapiens suppressor of variegation 3-9 homolog 1 (Drosophila) (SUV39H1), mRNA. 358 Mediates interaction with MECOM (By similarity).|SET. cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 TCCGGGCAGGCGAGGAGCTCA 0.592 ZC3H12B 340554 broad.mit.edu 37 X 64722205 64722205 + Missense_Mutation SNP C C A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chrX:64722205C>A uc010nko.3 + 4 1694 c.1627C>A c.(1627-1629)Cat>Aat p.H543N NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA. 532 endonuclease activity|nucleic acid binding|zinc ion binding p.H393N(1)|p.H479N(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CATGGGGGACCATGGCTACTA 0.478 GPR174 84636 broad.mit.edu 37 X 78427065 78427065 + Silent SNP C C A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chrX:78427065C>A uc004edg.1 + 0 597 c.561C>A c.(559-561)acC>acA p.T187T NM_032553 NP_115942 Q9BXC1 GP174_HUMAN Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA. 187 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.T187fs*3(2) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 TTATGATGACCATTGGCGAGT 0.458 HNSCC(63;0.18) BRWD3 254065 broad.mit.edu 37 X 79960260 79960260 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chrX:79960260G>A uc004edt.3 - 22 2901 c.2638C>T c.(2638-2640)Cgt>Tgt p.R880C BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.R709C|BRWD3_uc004edq.3_Missense_Mutation_p.R476C|BRWD3_uc010nmj.2_Missense_Mutation_p.R476C|BRWD3_uc004edr.3_Missense_Mutation_p.R550C|BRWD3_uc004eds.3_Missense_Mutation_p.R476C|BRWD3_uc004edo.3_Missense_Mutation_p.R476C|BRWD3_uc004edu.3_Missense_Mutation_p.R550C|BRWD3_uc004edv.3_Missense_Mutation_p.R476C|BRWD3_uc004edw.3_Missense_Mutation_p.R476C|BRWD3_uc004edx.3_Missense_Mutation_p.R476C|BRWD3_uc004edy.3_Missense_Mutation_p.R476C|BRWD3_uc004edz.3_Missense_Mutation_p.R550C|BRWD3_uc004eea.3_Missense_Mutation_p.R550C|BRWD3_uc004eeb.3_Missense_Mutation_p.R476C NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 880 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 CATATTTTACGTGTTGTCTGT 0.368 NRK 203447 broad.mit.edu 37 X 105156744 105156744 + Missense_Mutation SNP T T G TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chrX:105156744T>G uc004emd.3 + 13 2649 c.2346T>G c.(2344-2346)atT>atG p.I782M NRK_uc010npc.1_Missense_Mutation_p.I450M NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 782 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.I782fs*66(1) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CTAAAAAAATTGAGGTAAATT 0.338 HNSCC(51;0.14) DOCK11 139818 broad.mit.edu 37 X 117748723 117748723 + Frame_Shift_Del DEL C C - TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chrX:117748723delC uc004eqp.2 + 28 3228 c.3165delC c.(3163-3165)agcfs p.S1055fs DOCK11_uc004eqq.2_Frame_Shift_Del_p.S821fs NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 1055 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CTGGATTCAGCCCCAAAGATC 0.343 MTMR1 8776 broad.mit.edu 37 X 149898608 149898608 + Missense_Mutation SNP A A G TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chrX:149898608A>G uc004feh.1 + 6 718 c.583A>G c.(583-585)Aaa>Gaa p.K195E MTMR1_uc011mya.1_Missense_Mutation_p.K93E|MTMR1_uc004feg.1_Missense_Mutation_p.K187E|MTMR1_uc004fei.3_Missense_Mutation_p.K187E|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript NM_003828 NP_003819 Q13613 MTMR1_HUMAN Homo sapiens myotubularin related protein 1 (MTMR1), mRNA. 187 plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GCTTGCTTATAAACAGGAAGA 0.383 PLXNB3 5365 broad.mit.edu 37 X 153032873 153032873 + Silent SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef8b63f3-b820-46ac-a99c-3d401a6203d7 2b92596c-8041-40ce-846f-c7d11418faf9 g.chrX:153032873G>A uc010nuk.2 + 3 931 c.660G>A c.(658-660)tcG>tcA p.S220S PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Silent_p.S197S|PLXNB3_uc011mzd.1_Intron NM_001163257 NP_001156729 Q9ULL4 PLXB3_HUMAN Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA. 197 Sema. 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) GCAAGCTGTCGGCAGGGGTGC 0.716