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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut FCGR3B 2215 broad.mit.edu 37 1 161600959 161600959 + Missense_Mutation SNP G A A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:161600959G>A uc009wul.3 - 0 294 c.34C>T c.(34-36)Ccc>Tcc p.P12S FCGR3B_uc021pdo.1_Intron NM_001244753 NP_001231682 O75015 FCG3B_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA. 0 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGACAGGAGGGAGTAAACAGC 0.517000 22 8 0 0 1.12685e-05 0 0 DNM1 1759 broad.mit.edu 37 9 130965819 130965819 + Missense_Mutation SNP G A A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr9:130965819G>A uc022bob.1 + 0 157 c.70G>A c.(70-72)Ggc>Agc p.G24S CIZ1_uc004btw.3_Intron|CIZ1_uc004btv.3_Intron|DNM1_uc022bnx.1_Missense_Mutation_p.G24S|DNM1_uc022bny.1_Missense_Mutation_p.G24S|DNM1_uc022bnz.1_Missense_Mutation_p.G24S|DNM1_uc022boa.1_Missense_Mutation_p.G24S NM_004408 NP_004399 Q05193 DYN1_HUMAN Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA. 24 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CTCTGCCATCGGCCAGAACGC 0.682000 11 9 0 0 3.86212e-05 0 0 FCGR2C 9103 broad.mit.edu 37 1 161569429 161569429 + RNA SNP C G G TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:161569429C>G uc021pdi.1 + 6 c.907C>G NM_201563 Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA. lung(2) 2 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) cccacctggacgtcaaatgat 0.438000 13 6 0 0 0.000157383 0 0 IGF1R 3480 broad.mit.edu 37 15 99440126 99440126 + Missense_Mutation SNP G C C TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr15:99440126G>C uc002bul.3 + 3 1144 c.1094G>C c.(1093-1095)cGa>cCa p.R365P IGF1R_uc010urq.2_Missense_Mutation_p.R365P|IGF1R_uc010bon.3_Missense_Mutation_p.R365P|IGF1R_uc021sxi.1_5'Flank NM_000875 NP_000866 P08069 IGF1R_HUMAN Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA. 365 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding p.I364M(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ATTAACATCCGACGGGGGAGT 0.443000 31 15 0 0 7.07596e-05 0 0 DHX38 9785 broad.mit.edu 37 16 72130255 72130255 + Missense_Mutation SNP G A A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr16:72130255G>A uc002fcb.3 + 1 554 c.199G>A c.(199-201)Gat>Aat p.D67N TXNL4B_uc010cgl.2_5'Flank|TXNL4B_uc002fca.3_5'Flank|TXNL4B_uc010vmn.2_5'Flank|TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Missense_Mutation_p.D67N|DHX38_uc010cgn.1_5'Flank NM_014003 NP_054722 Q92620 PRP16_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA. 67 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) GGAGAAGGACGATGGGGAGGA 0.572000 2 16 0 0 3.45872e-05 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C T T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 51 6 0 0 1.12685e-05 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342280 60342280 + RNA SNP C T T rs80012429 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr17:60342280C>T uc010woz.2 - 13 c.1849G>A Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 TTAATACATTCTCATAAGTTT 0.488000 88 17 0 0 7.07596e-05 0 0 SCAP 22937 broad.mit.edu 37 3 47462468 47462468 + Missense_Mutation SNP T C C TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr3:47462468T>C uc003crh.1 - 10 1552 c.1297A>G c.(1297-1299)Atg>Gtg p.M433V SCAP_uc011baz.1_Missense_Mutation_p.M178V|SCAP_uc003crg.2_Missense_Mutation_p.M41V NM_012235 NP_036367 Q12770 SCAP_HUMAN Homo sapiens SREBF chaperone (SCAP), mRNA. 433 SSD. cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) AAAAACAGCATCTGAAGGAAG 0.592000 OREG0015548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 47 0 0 0.000147903 0 0 KIAA1737 85457 broad.mit.edu 37 14 77572145 77572145 + Missense_Mutation SNP G T T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr14:77572145G>T uc001xtd.3 + 1 273 c.94G>T c.(94-96)Ggg>Tgg p.G32W KIAA1737_uc001xtc.1_5'UTR NM_033426 NP_219494 Q9C0C6 K1737_HUMAN Homo sapiens KIAA1737 (KIAA1737), mRNA. 32 endometrium(2)|lung(4)|prostate(3) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) TCGTCAGCTTGGGATGGCTGC 0.453000 88 6 2.17888e-05 0.00105119 2.17888e-05 1 0 DNAH9 1770 broad.mit.edu 37 17 11554609 11554609 + Missense_Mutation SNP C T T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr17:11554609C>T uc002gne.3 + 12 2389 c.2321C>T c.(2320-2322)gCa>gTa p.A774V DNAH9_uc010coo.3_Missense_Mutation_p.A68V NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 774 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGCCTCAGAGCAGCAGAGGAG 0.423000 32 12 0 0 6.40141e-05 0 0 CLCA2 9635 broad.mit.edu 37 1 86896584 86896584 + Missense_Mutation SNP G T T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:86896584G>T uc001dlr.4 + 3 677 c.515G>T c.(514-516)gGt>gTt p.G172V NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN Homo sapiens chloride channel accessory 2 (CLCA2), mRNA. 172 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CTCCGTTGGGGTGTGTTCGAT 0.388000 52 49 2.12129e-23 1.15133e-21 0.000147903 1 0 ZFX 7543 broad.mit.edu 37 X 24229387 24229387 + Missense_Mutation SNP C G G TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chrX:24229387C>G uc011mjv.2 + 9 2678 c.2429C>G c.(2428-2430)aCg>aGg p.T810R ZFX_uc004dbd.2_Missense_Mutation_p.T771R|ZFX_uc004dbf.3_Missense_Mutation_p.T771R|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.T771R|ZFX_uc010nfx.2_Missense_Mutation_p.T542R|ZFX_uc010nfz.3_Missense_Mutation_p.T427R NM_001178086 NP_001171557 P17010 ZFX_HUMAN Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA. 771 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 TCCATTCACACGAAAGACTAT 0.453000 4 34 0 0 0.000132358 0 0 DPYSL5 56896 broad.mit.edu 37 2 27157527 27157527 + Missense_Mutation SNP C T T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr2:27157527C>T uc002rhu.4 + 7 1030 c.872C>T c.(871-873)gCg>gTg p.A291V DPYSL5_uc002rhv.4_Missense_Mutation_p.A291V|DPYSL5_uc021vev.1_Missense_Mutation_p.A291V NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA. 291 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGTCCCACGCGGCTGCCTAT 0.582000 66 51 0 0 0.000147903 0 0 PTEN 5728 broad.mit.edu 37 10 89717727 89717727 + Missense_Mutation SNP G T T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr10:89717727G>T uc001kfb.3 + 6 1784 c.752G>T c.(751-753)gGt>gTt p.G251V PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 251 C2 tensin-type. G -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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 PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.C250fs*2(6)|p.R55fs*1(5)|p.G251C(4)|p.G251D(4)|p.N212fs*1(2)|p.G251V(2)|p.Y27fs*1(2)|p.G251fs*6(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.C250*(1)|p.C250fs*10(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) CCTGTGTGTGGTGATATCAAA 0.398000 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) 1 17 1.01871e-10 5.14331e-09 0.000132079 1 0 NBPF10 100132406 broad.mit.edu 37 1 144815968 144815968 + Missense_Mutation SNP G A A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:144815968G>A uc009wig.1 + 10 1527 c.1333G>A c.(1333-1335)Gtt>Att p.V445I NBPF10_uc010oxo.1_Missense_Mutation_p.V447I|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.V176I|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.V107I NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 447 p.V189I(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGATGTTCAAGTTGAGGTGGC 0.423000 68 16 0 0 0.000229342 0 0 FMNL1 752 broad.mit.edu 37 17 43309817 43309817 + Silent SNP G A A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr17:43309817G>A uc002iin.3 + 2 497 c.297G>A c.(295-297)aaG>aaA p.K99K FMNL1_uc002iio.3_Splice_Site_p.K54_splice|FMNL1_uc002iip.1_5'Flank NM_005892 NP_005883 O95466 FMNL_HUMAN Homo sapiens formin-like 1 (FMNL1), mRNA. 99 GBD/FH3. actin cytoskeleton organization Rho GTPase binding|actin binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 TCAGCCGAAAGGTAGCAGCTG 0.542000 16 10 0 0 6.40141e-05 0 0 MED22 6837 broad.mit.edu 37 9 136210997 136210997 + Silent SNP C T T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr9:136210997C>T uc004cdc.3 - 3 630 c.396G>A c.(394-396)gaG>gaA p.E132E MED22_uc004cdd.3_Silent_p.E132E NM_133640 NP_598395 Q15528 MED22_HUMAN Homo sapiens mediator complex subunit 22 (MED22), transcript variant b, mRNA. 132 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|mediator complex|soluble fraction protein binding endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05) AGTAATACTCCTCCTCCAGCT 0.607000 24 24 0 0 9.22233e-05 0 0 MLL3 58508 broad.mit.edu 37 7 151891141 151891141 + Nonsense_Mutation SNP A T T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr7:151891141A>T uc003wla.3 - 30 4832 c.4613T>A c.(4612-4614)tTg>tAg p.L1538* MLL3_uc003wkz.3_Nonsense_Mutation_p.L599* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 1538 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGGCTGTGGCAATGGAGTTGG 0.393000 N medulloblastoma 0 22 0 0 7.16444e-05 0 0 SLC6A13 6540 broad.mit.edu 37 12 330229 330229 + Missense_Mutation SNP C T T rs141229734 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr12:330229C>T uc001qic.2 - 14 1784 c.1694G>A c.(1693-1695)cGt>cAt p.R565H SLC6A13_uc009zdj.2_Missense_Mutation_p.R555H|SLC6A13_uc010sdl.2_Missense_Mutation_p.R473H NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 565 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.R565C(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CATGAGCTGACGGATTCTCTG 0.652000 17 8 0 0 2.17888e-05 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342294 60342294 + RNA SNP A C C rs76100965 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr17:60342294A>C uc010woz.2 - 13 c.1835T>G Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 TAAGTTTAACAAAAAATAAAA 0.483000 86 17 0 0 9.7654e-05 0 0 NBPF10 100132406 broad.mit.edu 37 1 144815953 144815953 + Missense_Mutation SNP A G G TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:144815953A>G uc009wig.1 + 10 1512 c.1318A>G c.(1318-1320)Aat>Gat p.N440D NBPF10_uc010oxo.1_Missense_Mutation_p.N442D|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.N171D|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.N102D NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 442 p.N184D(2) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAACGATGACAATGAAGATGT 0.423000 72 15 0 0 2.31682e-05 0 0 CCDC160 347475 broad.mit.edu 37 X 133379086 133379086 + Missense_Mutation SNP A G G TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chrX:133379086A>G uc011mvj.2 + 1 577 c.256A>G c.(256-258)Att>Gtt p.I86V NM_001101357 NP_001094827 A6NGH7 CC160_HUMAN Homo sapiens coiled-coil domain containing 160 (CCDC160), mRNA. 86 endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1) 17 CAAGAGAAACATTTCAAAGAA 0.294000 1 7 0 0 8.12818e-05 0 0 SOHLH1 402381 broad.mit.edu 37 9 138590185 138590185 + Missense_Mutation SNP T A A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr9:138590185T>A uc010nbe.3 - 2 396 c.335A>T c.(334-336)gAg>gTg p.E112V SOHLH1_uc004cgl.3_Missense_Mutation_p.E112V NM_001101677 NP_001095147 Q5JUK2 SOLH1_HUMAN Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA. 112 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) AGCGTGCTGCTCCTGACTGGG 0.642000 32 27 0 0 0.000227799 0 0 SORCS3 22986 broad.mit.edu 37 10 107006985 107006985 + Missense_Mutation SNP C A A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr10:107006985C>A uc001kyi.1 + 21 3228 c.3001C>A c.(3001-3003)Cag>Aag p.Q1001K SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 1001 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGAATATTTCCAGTCCCAGCT 0.468000 0 5 3.59834e-05 0.00169826 3.59834e-05 1 0 TRIM38 10475 broad.mit.edu 37 6 25983718 25983718 + Missense_Mutation SNP A G G rs139300929 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr6:25983718A>G uc003nfm.3 + 7 1636 c.1201A>G c.(1201-1203)Act>Gct p.T401A TRIM38_uc010jqd.3_Missense_Mutation_p.T37A NM_006355 NP_006346 O00635 TRI38_HUMAN Homo sapiens tripartite motif containing 38 (TRIM38), mRNA. 401 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 TTCTCCCCCAACTTCCCTTCA 0.507000 57 22 0 0 9.22233e-05 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183406 11183406 + Missense_Mutation SNP C T T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr12:11183406C>T uc001qzo.1 - 0 601 c.529G>A c.(529-531)Gcg>Acg p.A177T PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron NM_176885 NP_795366 P59538 T2R31_HUMAN Homo sapiens taste receptor, type 2, member 31 (TAS2R31), mRNA. 177 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 GTTACAGTCGCATCTGAAAGG 0.393000 58 6 0 0 2.17888e-05 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342311 60342311 + RNA SNP G T T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr17:60342311G>T uc010woz.2 - 13 c.1818C>A Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 AAAACGAGGAGGCGAAGCTTG 0.458000 87 17 3.99206e-14 2.06351e-12 9.7654e-05 1 0 GSG1L 146395 broad.mit.edu 37 16 27974490 27974490 + Silent SNP C T T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr16:27974490C>T uc002doz.2 - 1 469 c.384G>A c.(382-384)ccG>ccA p.P128P GSG1L_uc010bya.1_Silent_p.P128P NM_001109763 NP_653276 Q6UXU4 GSG1L_HUMAN Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA. 128 integral to membrane p.P128P(1)|p.G128W(1) endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4) 17 TCTCCGATGCCGGGGCCAGGT 0.542000 17 8 0 0 2.17888e-05 0 0 NRK 203447 broad.mit.edu 37 X 105178259 105178259 + Missense_Mutation SNP G C C TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chrX:105178259G>C uc004emd.3 + 19 3625 c.3322G>C c.(3322-3324)Ggt>Cgt p.G1108R NRK_uc010npc.1_Missense_Mutation_p.G776R NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 1108 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GGAGCCAGGTGGTGGAAATGA 0.418000 HNSCC(51;0.14) 23 3 0 0 1.23904e-05 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76877888 76877888 + Missense_Mutation SNP C G G TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:76877888C>G uc001dhh.2 + 2 572 c.409C>G c.(409-411)Cta>Gta p.L137V ST6GALNAC3_uc001dhg.4_Missense_Mutation_p.L137V|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.L72V NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA. 137 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TCCTCTTTTGCTAAAAAACCC 0.418000 16 17 0 0 5.01169e-05 0 0 FRG1 2483 broad.mit.edu 37 4 190876268 190876268 + Missense_Mutation SNP A G G rs145193566 by1000genomes TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr4:190876268A>G uc003izs.3 + 4 585 c.394A>G c.(394-396)Att>Gtt p.I132V NM_004477 NP_004468 Q14331 FRG1_HUMAN Homo sapiens FSHD region gene 1 (FRG1), mRNA. 132 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus p.I132T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TTCAGATGCAATTGGACCAAG 0.358000 96 4 0 0 1.23904e-05 0 0 NBPF10 100132406 broad.mit.edu 37 1 144828683 144828683 + Missense_Mutation SNP C G G TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:144828683C>G uc009wig.1 + 21 2916 c.2722C>G c.(2722-2724)Cag>Gag p.Q908E NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 910 p.Q577E(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ATTTGAGGAACAGCACATCAG 0.438000 142 26 0 0 0.000227799 0 0 MAP3K6 9064 broad.mit.edu 37 1 27688678 27688678 + Missense_Mutation SNP T A A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:27688678T>A uc001bny.1 - 8 1568 c.1319A>T c.(1318-1320)gAt>gTt p.D440V MAP3K6_uc009vsw.1_Missense_Mutation_p.D432V|MAP3K6_uc001bnz.1_5'Flank NM_004672 NP_004663 O95382 M3K6_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA. 440 MQYYWD -> ALWVPV (in Ref. 3; AAI29952).|MQYYWD -> HTWVPV (in Ref. 3; AAI29951). activation of JUN kinase activity ATP binding|MAP kinase kinase kinase activity|magnesium ion binding breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GAAACCCACATCCCAGTAATA 0.597000 8 13 0 0 0.000151284 0 0 PCNX 22990 broad.mit.edu 37 14 71540341 71540341 + Silent SNP T C C TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr14:71540341T>C uc001xmo.2 + 26 5378 c.4932T>C c.(4930-4932)ccT>ccC p.P1644P PCNX_uc010are.1_Silent_p.P1533P|PCNX_uc010arf.1_Silent_p.P432P NM_014982 NP_055797 Q96RV3 PCX1_HUMAN Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA. 1644 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTTGTGAACCTGGCCATATTC 0.453000 39 24 0 0 9.22233e-05 0 0 SNW1 22938 broad.mit.edu 37 14 78187103 78187103 + Missense_Mutation SNP C A A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr14:78187103C>A uc010tvn.1 - 11 1226 c.1199G>T c.(1198-1200)cGg>cTg p.R400L SNW1_uc001xuf.3_Missense_Mutation_p.R400L|SNW1_uc010tvm.2_Missense_Mutation_p.R325L Q13573 SNW1_HUMAN Homo sapiens SNW domain containing 1 (SNW1), mRNA. 400 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) ATTGGAAGTCCGAGGATTAGG 0.388000 53 36 2.75727e-19 1.46001e-17 0.000159656 1 0 NCOA3 8202 broad.mit.edu 37 20 46262905 46262905 + Missense_Mutation SNP C G G TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr20:46262905C>G uc002xtk.3 + 9 1339 c.1078C>G c.(1078-1080)Cga>Gga p.R360G NCOA3_uc002xtl.3_Missense_Mutation_p.R360G|NCOA3_uc002xtn.3_Missense_Mutation_p.R360G|NCOA3_uc010ght.2_Missense_Mutation_p.R370G|NCOA3_uc002xtm.3_Missense_Mutation_p.R360G|NCOA3_uc010zyc.2_Missense_Mutation_p.R155G NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA. 360 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.D359V(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 AACAAATGATCGACATGGCTT 0.388000 50 31 0 0 0.000159656 0 0 CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG - - TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:32670247_32670248delTG uc021okt.1 + 4 706_707 c.574_575delTG c.(574-576)tgtfs p.C192fs CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank NM_024296 NP_077272 Q9BUN5 CC28B_HUMAN Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA. 0 p.A192V(1) large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 --- 166 --- --- 7 --- FLG 2312 broad.mit.edu 37 1 152276467 152276468 + In_Frame_Ins INS - GGA GGA TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:152276467_152276468insGGA uc001ezu.1 - 2 10930_10931 c.10894_10895insTCC c.(10894-10896)cag>cTCCag p.3631_3632insL NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3631 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTGCTGACTGCTGGTGGTGG 0.554 Ichthyosis --- 643 --- --- 8 --- ITPKB 3707 broad.mit.edu 37 1 226924876 226924884 + In_Frame_Del DEL CTGCCGCTG - - rs11278152 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:226924876_226924884delCTGCCGCTG uc010pvo.2 - 1 616_624 c.276_284delCAGCGGCAG c.(274-285)agcagcggcagt>agt p.92_95SSGS>S ITPKB_uc001hqh.3_In_Frame_Del_p.92_95SSGS>S NM_002221 NP_002212 P27987 IP3KB_HUMAN Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA. 92 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity p.A94P(1)|p.V95L(1) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GCTCACgctactgccgctgctgccgctgc 0.746 --- 23 --- --- 8 --- KALRN 8997 broad.mit.edu 37 3 123953675 123953675 + Splice_Site DEL G - - TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr3:123953675delG uc003ehg.3 + 3 270 c.143_splice c.e3-1 p.G48_splice KALRN_uc010hrv.1_Splice_Site_p.G48_splice|KALRN_uc003ehf.1_Splice_Site_p.G48_splice|KALRN_uc011bjy.1_Splice_Site_p.G48_splice NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 48 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCTTCTTGCAGGGGGTCGTGA 0.488 --- 4 --- --- 2 --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - GGC GGC rs67907220 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr4:147560457_147560458insGGC uc003ikv.3 + 0 413_414 c.165_166insGGC c.(163-168)insGGC p.68_69insG NM_004575 NP_004566 Q12837 PO4F2_HUMAN Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA. 68 Poly-Gly. MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 --- 4 --- --- 2 --- PURA 5813 broad.mit.edu 37 5 139494456 139494458 + In_Frame_Del DEL CTT - - TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr5:139494456_139494458delCTT uc003lfa.3 + 0 749_751 c.690_692delCTT c.(688-693)cgcttc>cgc p.F233del NM_005859 NP_005850 Q00577 PURA_HUMAN Homo sapiens purine-rich element binding protein A (PURA), mRNA. 233 DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACAAGCGCTTCTTCTTCGAT 0.596 --- 4 --- --- 21 --- C6orf223 221416 broad.mit.edu 37 6 43970503 43970504 + In_Frame_Ins INS - GCG GCG rs72369323 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr6:43970503_43970504insGCG uc003own.3 + 3 389_390 c.369_370insGCG c.(367-372)insGCG p.132_133insA AK024736_uc003owm.1_Intron|C6orf223_uc003owo.3_3'UTR NM_153246 NP_694978 Q8N319 CF223_HUMAN Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA. 132 Ala-rich. A -> AA (in Ref. 2; AAH32706). central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) CGGTAGAGCGCgcggcggcggc 0.777 --- 8 --- --- 4 --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - T T rs148250832 byFrequency TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr9:138715799_138715800insT uc004cgr.4 - 9 1396_1397 c.1396_1397insA c.(1396-1398)accfs p.T466fs CAMSAP1_uc004cgq.4_Frame_Shift_Ins_p.T356fs|CAMSAP1_uc010nbg.3_Frame_Shift_Ins_p.T188fs NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA. 466 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACTCACCTGGTTTTTTTTTCT 0.460 --- 4 --- --- 3 --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA - - TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr12:121134166_121134168delGAA uc001tyy.1 + 4 848_850 c.697_699delGAA c.(697-699)gaadel p.E238del NM_014730 NP_055545 Q14165 MLEC_HUMAN Homo sapiens malectin (MLEC), mRNA. 238 Poly-Glu. post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 --- 313 --- --- 8 --- ASF1B 55723 broad.mit.edu 37 19 14232424 14232424 + Frame_Shift_Del DEL G - - TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr19:14232424delG uc002mye.3 - 2 494 c.322delC c.(322-324)cgafs p.R108fs NM_018154 NP_060624 Q9NVP2 ASF1B_HUMAN Homo sapiens ASF1 anti-silencing function 1 homolog B (S. cerevisiae) (ASF1B), mRNA. 108 Interaction with CHAF1B.|Interaction with histone H3 (By similarity). cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 TAGCCCACTCGGATGAACTCC 0.587 --- 35 --- --- 22 ---