Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut STK32B 55351 broad.mit.edu 37 4 5141659 5141659 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:5141659G>A ENST00000282908.5 + 2 502 c.80G>A c.(79-81)cGg>cAg p.R27Q STK32B_ENST00000512636.1_5'UTR|STK32B_ENST00000510398.1_5'UTR NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 27 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 CAGATTCTGCGGGCCATTGGT 0.388000 26 103 0 0 1 0 0 TCP11L1 55346 broad.mit.edu 37 11 33079495 33079495 + Missense_Mutation SNP A A G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:33079495A>G ENST00000334274.4 + 5 848 c.448A>G c.(448-450)Act>Gct p.T150A TCP11L1_ENST00000432887.1_Missense_Mutation_p.T150A|TCP11L1_ENST00000531632.2_Missense_Mutation_p.T150A|TCP11L1_ENST00000530171.1_3'UTR NM_018393.3 NP_060863.3 Q9NUJ3 T11L1_HUMAN t-complex 11, testis-specific-like 1 150 kidney(1)|liver(2)|lung(2)|skin(1) 6 GCCTGGTCATACTAGACTGAG 0.373000 5 35 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73152209 73152209 + Missense_Mutation SNP G G A rs146119682 byFrequency TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr9:73152209G>A ENST00000377110.3 - 25 4027 c.3784C>T c.(3784-3786)Cgc>Tgc p.R1262C TRPM3_ENST00000396280.5_Missense_Mutation_p.R1111C|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1121C|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1121C|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1289C|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1124C|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1134C|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1124C|TRPM3_ENST00000377111.2_Missense_Mutation_p.R1262C|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1266C|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1134C|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1121C Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GTGGCCATGCGCCCGATAAGG 0.627000 11 59 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23894224 23894224 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr14:23894224C>T ENST00000355349.3 - 22 2595 c.2433G>A c.(2431-2433)ctG>ctA p.L811L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 811 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGATTACCAGCAGGGAGTCTC 0.532000 9 69 0 0 1 0 0 RPS12 6206 broad.mit.edu 37 6 133138189 133138189 + Missense_Mutation SNP G G T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr6:133138189G>T ENST00000230050.3 + 5 535 c.325G>T c.(325-327)Gta>Tta p.V109L NM_001016.3 NP_001007.2 P25398 RS12_HUMAN ribosomal protein S12 109 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(13)|lung(3)|urinary_tract(1) 18 Breast(56;0.214) OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256) TTGCAGTTGTGTAGTAGTTAA 0.393000 8 42 0.0477658 0.0477658 1 1 0 TBR1 10716 broad.mit.edu 37 2 162273338 162273338 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:162273338C>T ENST00000389554.3 + 1 734 c.417C>T c.(415-417)atC>atT p.I139I NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 139 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CCTTCTCCATCGGCAGCCCTA 0.677000 25 219 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32036209 32036209 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr6:32036209C>T ENST00000375244.3 - 17 6379 c.6178G>A c.(6178-6180)Ggt>Agt p.G2060S TNXB_ENST00000375247.2_Missense_Mutation_p.G2060S P22105 TENX_HUMAN tenascin XB 2142 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CGCTGGCCACCGTGGAAGCCG 0.632000 4 50 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71634361 71634361 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:71634361G>C ENST00000226328.4 + 5 1242 c.679G>C c.(679-681)Gaa>Caa p.E227Q RUFY3_ENST00000536664.1_Missense_Mutation_p.E211Q|RUFY3_ENST00000417478.2_Missense_Mutation_p.E287Q|RUFY3_ENST00000502653.1_Missense_Mutation_p.E174Q|RUFY3_ENST00000381006.3_Missense_Mutation_p.E227Q NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 227 RUN. negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) TATGAAAGGAGAAGACTTGGA 0.448000 28 82 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7401030 7401030 + Missense_Mutation SNP G G T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:7401030G>T ENST00000322644.6 + 7 1442 c.1043G>T c.(1042-1044)gGc>gTc p.G348V POLR2A_ENST00000572844.1_Missense_Mutation_p.G348V NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 348 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GGCAAGGAAGGCCGGGTGCGA 0.602000 7 65 0.00198382 0.00200882 1 1 0 CDH26 60437 broad.mit.edu 37 20 58569409 58569409 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr20:58569409G>C ENST00000348616.4 + 11 1831 c.1531G>C c.(1531-1533)Gag>Cag p.E511Q CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244047.5_Missense_Mutation_p.E511Q NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 511 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GGAGGTCTGTGAGTCTGCTGT 0.557000 11 76 0 0 1 0 0 CEBPE 1053 broad.mit.edu 37 14 23586911 23586911 + Silent SNP G G T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr14:23586911G>T ENST00000206513.5 - 2 1155 c.631C>A c.(631-633)Cgg>Agg p.R211R NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 211 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) TTGCGCTCCCGCCTCAGCCGG 0.617000 34 66 9.65963e-10 1.03008e-09 1 1 0 HOXB8 3218 broad.mit.edu 37 17 46691976 46691976 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:46691976C>T ENST00000239144.4 - 1 325 c.91G>A c.(91-93)Gac>Aac p.D31N HOXB8_ENST00000576562.1_Missense_Mutation_p.D31N|HOXB7_ENST00000567101.2_Intron NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 31 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A29_D31delAQD(1) large_intestine(1)|lung(8)|urinary_tract(2) 11 CCGCCCAGGTCCTGGGCGAAG 0.577000 4 22 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17032461 17032461 + Missense_Mutation SNP G G T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr10:17032461G>T ENST00000377833.4 - 29 4287 c.4222C>A c.(4222-4224)Ccc>Acc p.P1408T NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1408 CUB 9. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TACCTGTTGGGGAACCCGGGG 0.527000 10 90 0.000673444 0.000690638 1 1 0 IKBKB 3551 broad.mit.edu 37 8 42162785 42162785 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr8:42162785G>A ENST00000520810.1 + 6 655 c.469G>A c.(469-471)Gaa>Aaa p.E157K IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.E155K|IKBKB_ENST00000416505.2_Missense_Mutation_p.E98K|IKBKB_ENST00000519735.1_Missense_Mutation_p.E157K|IKBKB_ENST00000379708.3_Intron NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 157 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 transcription, DNA-dependent|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) GCAGCAAGGAGAACAGAGGGT 0.537000 5 46 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23906234 23906234 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr13:23906234C>T ENST00000382298.3 - 10 12369 c.11781G>A c.(11779-11781)gcG>gcA p.A3927A SACS_ENST00000402364.1_Silent_p.A3177A|SACS_ENST00000382292.3_Silent_p.A3927A NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3927 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TATAATGTGGCGCATCGTCAA 0.443000 38 149 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595021 55595021 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:55595021C>T ENST00000378397.1 + 1 327 c.327C>T c.(325-327)gtC>gtT p.V109V NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CATGTGGAGTCACTGAGGTCT 0.493000 HNSCC(27;0.073) 25 1553 0 0 1 0 0 ZZZ3 26009 broad.mit.edu 37 1 78098097 78098097 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:78098097C>T ENST00000370801.3 - 5 1418 c.943G>A c.(943-945)Gag>Aag p.E315K ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 ACTTCCTCCTCAGAATCCCTT 0.458000 10 112 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27135134 27135134 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr7:27135134C>T ENST00000343060.4 - 1 459 c.398G>A c.(397-399)gGa>gAa p.G133E HOXA1_ENST00000355633.5_Intron NM_005522.4 NP_005513 P49639 HXA1_HUMAN homeobox A1 133 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G133E(1) endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGAGAGATTTCCAGAGTAAAC 0.567000 11 127 0 0 1 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99627511 99627511 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr7:99627511C>T ENST00000324306.6 + 4 842 c.608C>T c.(607-609)cCc>cTc p.P203L ZKSCAN1_ENST00000535170.1_5'UTR|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.P167L NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 203 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) ATTCCTGCACCCCCTCATGAG 0.592000 23 107 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66462691 66462691 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr5:66462691G>C ENST00000404260.3 + 29 8001 c.7693G>C c.(7693-7695)Ggg>Cgg p.G2565R MAST4_ENST00000261569.7_Missense_Mutation_p.G2368R|MAST4_ENST00000405643.1_Missense_Mutation_p.G2383R|MAST4_ENST00000403625.2_Missense_Mutation_p.G2562R|MAST4_ENST00000403666.1_Missense_Mutation_p.G2373R O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2565 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GGAAACCAAAGGGAAGGACCC 0.657000 3 16 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123813621 123813621 + Missense_Mutation SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:123813621T>C ENST00000321252.2 - 1 959 c.925A>G c.(925-927)Agg>Ggg p.R309G NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GCAGTGAGCCTGGGCCACCCC 0.443000 4 137 0 0 1 0 0 DDAH1 23576 broad.mit.edu 37 1 85787233 85787233 + Missense_Mutation SNP C C A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:85787233C>A ENST00000284031.8 - 6 854 c.760G>T c.(760-762)Gac>Tac p.D254Y DDAH1_ENST00000539042.1_Missense_Mutation_p.D254Y|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000426972.3_Missense_Mutation_p.D161Y|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000542148.1_Missense_Mutation_p.D154Y|DDAH1_ENST00000535924.2_Missense_Mutation_p.D151Y NM_012137.3 NP_036269.1 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 254 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1) 5 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) AGCATATGGTCCTTCAGTTTC 0.418000 9 61 1.12685e-05 1.17056e-05 1 1 0 RUFY2 55680 broad.mit.edu 37 10 70156625 70156625 + Nonsense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr10:70156625G>A ENST00000388768.2 - 4 741 c.415C>T c.(415-417)Cga>Tga p.R139* RUFY2_ENST00000342616.4_Nonsense_Mutation_p.R104*|RUFY2_ENST00000602465.1_Nonsense_Mutation_p.R104*|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Nonsense_Mutation_p.R46* NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 153 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 GCTCTTGCTCGACCCAGAGGG 0.418000 11 34 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213914560 213914560 + Nonsense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:213914560G>A ENST00000457361.1 - 5 619 c.451C>T c.(451-453)Cag>Tag p.Q151* IKZF2_ENST00000342002.2_Nonsense_Mutation_p.Q157*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.Q125*|IKZF2_ENST00000413091.3_Nonsense_Mutation_p.Q151*|IKZF2_ENST00000434687.1_Nonsense_Mutation_p.Q151*|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.Q125*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.Q125* NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TTGCCCTTCTGAGTAAAAGAA 0.473000 6 20 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55362903 55362903 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr16:55362903G>A ENST00000290552.7 + 5 2345 c.1013G>A c.(1012-1014)aGg>aAg p.R338K RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 338 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R338M(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 GGCAGCCCTAGGTTGACCATG 0.647000 9 56 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102269957 102269957 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:102269957G>A ENST00000370103.4 - 6 1427 c.1214C>T c.(1213-1215)tCc>tTc p.S405F OLFM3_ENST00000338858.5_Missense_Mutation_p.S425F|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 425 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CTCATATGTGGAGGTTTTGGT 0.433000 28 184 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165584636 165584636 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:165584636C>T ENST00000375458.2 - 4 725 c.504G>A c.(502-504)tcG>tcA p.S168S COBLL1_ENST00000342193.4_Silent_p.S168S|COBLL1_ENST00000392717.2_Silent_p.S206S|COBLL1_ENST00000194871.6_Silent_p.S221S|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000409184.3_Silent_p.S206S NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 206 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GCTCTTGAAGCGATGCATGTG 0.378000 7 75 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15688989 15688989 + Missense_Mutation SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr10:15688989T>C ENST00000378076.3 - 12 1416 c.1063A>G c.(1063-1065)Aga>Gga p.R355G NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 355 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CCTACTTCTCTGGGGTTGCTC 0.507000 13 57 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 61 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49940823 49940823 + Missense_Mutation SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr3:49940823T>C ENST00000296474.3 - 1 247 c.220A>G c.(220-222)Ata>Gta p.I74V CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.I74V NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 74 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) CGATTGCGTATGGCTACAAAC 0.617000 14 117 0 0 1 0 0 C16orf82 162083 broad.mit.edu 37 16 27078340 27078340 + RNA SNP C C A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr16:27078340C>A ENST00000505035.1 + 0 313 RP11-673P17.2_ENST00000565783.1_RNA Q7Z2V1 TNT_HUMAN TTCAGCTGCCCCCCATTTTTC 0.567000 18 55 6.94344e-10 7.4372e-10 1 1 0 CACNA1B 774 broad.mit.edu 37 9 140911629 140911629 + Nonsense_Mutation SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr9:140911629C>G ENST00000277550.3 + 3 179 c.179C>G c.(178-180)tCa>tGa p.S60* CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371372.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000277551.2_Intron Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 0 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.S60*(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCTCGCAGCTCATCTGTCTCC 0.463000 3 31 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87564454 87564454 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr7:87564454C>T ENST00000398204.4 + 2 522 c.199C>T c.(199-201)Cac>Tac p.H67Y ADAM22_ENST00000439864.1_Missense_Mutation_p.H67Y|ADAM22_ENST00000398209.3_Missense_Mutation_p.H67Y|ADAM22_ENST00000398201.4_Missense_Mutation_p.H67Y|ADAM22_ENST00000315984.7_Missense_Mutation_p.H67Y|ADAM22_ENST00000265727.7_Missense_Mutation_p.H67Y NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 67 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CGAAAGTCGGCACGACGCGCT 0.692000 8 45 0 0 1 0 0 PSMD3 5709 broad.mit.edu 37 17 38152557 38152557 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:38152557C>T ENST00000264639.4 + 10 1616 c.1442C>T c.(1441-1443)tCc>tTc p.S481F PSMD3_ENST00000541736.1_Missense_Mutation_p.S343F NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 481 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) CAGCGCATCTCCTTCTGCCTA 0.562000 32 244 0 0 1 0 0 CDCP2 200008 broad.mit.edu 37 1 54610248 54610248 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:54610248G>A ENST00000371330.1 - 2 1165 c.318C>T c.(316-318)tgC>tgT p.C106C RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 106 CUB 1. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 GCACCTTGCCGCAGAACCTCC 0.587000 6 55 0 0 1 0 0 CREB3 10488 broad.mit.edu 37 9 35736273 35736273 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr9:35736273C>T ENST00000353704.2 + 8 1184 c.746C>T c.(745-747)tCt>tTt p.S249F CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 273 chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) ATGTACTCCTCTGACACAAGG 0.547000 OREG0019176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 221 0 0 1 0 0 SNRPA 6626 broad.mit.edu 37 19 41265431 41265431 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr19:41265431G>C ENST00000243563.3 + 3 892 c.342G>C c.(340-342)aaG>aaC p.K114N SNRPA_ENST00000599570.1_3'UTR NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 114 nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GGAAGCCCAAGAGCCAGGAGA 0.642000 31 72 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197990744 197990744 + Missense_Mutation SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:197990744C>G ENST00000328737.2 - 5 280 c.204G>C c.(202-204)ttG>ttC p.L68F ANKRD44_ENST00000539527.1_Missense_Mutation_p.L21F|ANKRD44_ENST00000409919.1_Missense_Mutation_p.L93F|ANKRD44_ENST00000409153.1_Missense_Mutation_p.L93F|ANKRD44_ENST00000450567.1_Missense_Mutation_p.L68F|ANKRD44_ENST00000282272.8_Missense_Mutation_p.L85F|ANKRD44_ENST00000337207.5_Missense_Mutation_p.L68F Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 93 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) AGTGCTTAATCAAAACCTGTA 0.463000 22 61 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24124303 24124303 + Missense_Mutation SNP A A C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr16:24124303A>C ENST00000303531.7 + 8 983 c.831A>C c.(829-831)ttA>ttC p.L277F PRKCB_ENST00000321728.7_Missense_Mutation_p.L277F NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 277 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GGTTTAAGTTACTGAGCCAGG 0.458000 30 79 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113299452 113299452 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr8:113299452C>T ENST00000297405.5 - 58 9416 c.9172G>A c.(9172-9174)Gat>Aat p.D3058N CSMD3_ENST00000343508.3_Missense_Mutation_p.D3018N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2889N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D2988N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3058 Sushi 22. integral to membrane|plasma membrane p.D3058N(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTACCTGGATCGCCACATGTC 0.443000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 78 0 0 1 0 0 AFM 173 broad.mit.edu 37 4 74365842 74365842 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:74365842C>T ENST00000226355.3 + 12 1637 c.1544C>T c.(1543-1545)gCt>gTt p.A515V NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 515 Albumin 3. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGTTTGAAAGCTGATAAAACA 0.418000 8 70 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102873781 102873781 + Nonsense_Mutation SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr14:102873781C>G ENST00000359520.7 + 3 552 c.326C>G c.(325-327)tCa>tGa p.S109* TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Nonsense_Mutation_p.S109* NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 109 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CTTGTATCTTCATTGCCAGGG 0.438000 11 46 0 0 1 0 0 WDR47 22911 broad.mit.edu 37 1 109554150 109554150 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:109554150G>A ENST00000357672.3 - 4 809 c.434C>T c.(433-435)gCa>gTa p.A145V WDR47_ENST00000369965.4_Missense_Mutation_p.A173V|WDR47_ENST00000361054.3_Missense_Mutation_p.A145V|WDR47_ENST00000369962.3_Missense_Mutation_p.A173V|WDR47_ENST00000400794.3_Missense_Mutation_p.A180V O94967 WDR47_HUMAN WD repeat domain 47 173 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) GATGAATTCTGCAACCATGAC 0.443000 38 226 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112838 59112838 + Missense_Mutation SNP G G T rs145184753 TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr14:59112838G>T ENST00000395153.3 + 4 1533 c.1386G>T c.(1384-1386)gaG>gaT p.E462D DACT1_ENST00000556859.1_Missense_Mutation_p.E218D|DACT1_ENST00000541264.2_Missense_Mutation_p.E218D|DACT1_ENST00000335867.4_Missense_Mutation_p.E499D NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 499 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus p.E499E(1) endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CGCCGCAGGAGAACAAAGTTG 0.607000 22 135 7.26314e-15 7.88476e-15 1 1 0 FRMPD4 9758 broad.mit.edu 37 X 12516884 12516884 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chrX:12516884G>A ENST00000380682.1 + 2 633 c.127G>A c.(127-129)Gca>Aca p.A43T NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 43 WW. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GGAGATGACGGCAAACCGAGA 0.502000 3 32 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42459726 42459726 + Nonsense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr15:42459726G>A ENST00000318006.5 - 13 1405 c.1243C>T c.(1243-1245)Caa>Taa p.Q415* VPS39_ENST00000348544.4_Nonsense_Mutation_p.Q426* NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 426 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) TTTACCAATTGACTTCGTTTC 0.453000 11 38 0 0 1 0 0 ANKS6 203286 broad.mit.edu 37 9 101540608 101540608 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr9:101540608G>A ENST00000353234.4 - 7 1514 c.1467C>T c.(1465-1467)gaC>gaT p.D489D ANKS6_ENST00000540940.1_Silent_p.D294D|ANKS6_ENST00000375018.1_Silent_p.D489D|ANKS6_ENST00000375019.2_Silent_p.D188D Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 489 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) GCTCAGGCTCGTCAGAGAAAG 0.592000 12 40 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 4 5 0.00909568 0.00917179 1 1 0 ZFYVE9 9372 broad.mit.edu 37 1 52704249 52704249 + Missense_Mutation SNP T T G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:52704249T>G ENST00000287727.3 + 4 1332 c.1160T>G c.(1159-1161)cTt>cGt p.L387R ZFYVE9_ENST00000371591.1_Missense_Mutation_p.L387R|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L387R O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 387 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 ACAGAATTCCTTAATATGACA 0.378000 16 77 0 0 1 0 0 SLX4IP 128710 broad.mit.edu 37 20 10603323 10603323 + Missense_Mutation SNP A A G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr20:10603323A>G ENST00000334534.5 + 8 703 c.523A>G c.(523-525)Aca>Gca p.T175A NM_001009608.1 NP_001009608.1 SLX4 interacting protein AAGAACTGAAACAAAAAGCAG 0.418000 4 60 0 0 1 0 0 UQCC1 55245 broad.mit.edu 37 20 33891852 33891852 + Missense_Mutation SNP C C A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr20:33891852C>A ENST00000374385.5 - 10 963 c.786G>T c.(784-786)atG>atT p.M262I UQCC1_ENST00000407996.2_Missense_Mutation_p.M125I|UQCC1_ENST00000374380.2_Missense_Mutation_p.M194I|UQCC1_ENST00000397556.3_Missense_Mutation_p.M163I|UQCC1_ENST00000374377.5_Missense_Mutation_p.M150I|UQCC1_ENST00000374384.2_Missense_Mutation_p.M236I|UQCC1_ENST00000540457.1_Missense_Mutation_p.M107I|UQCC1_ENST00000349714.5_Missense_Mutation_p.M235I|UQCC1_ENST00000359226.2_Missense_Mutation_p.M182I NM_018244.4 NP_060714.3 ubiquinol-cytochrome c reductase complex assembly factor 1 262 CCTCCCCGTTCATGGAGTCCA 0.597000 OREG0025888 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 118 3.6726e-16 4.00496e-16 1 1 0 PARP10 84875 broad.mit.edu 37 8 145052106 145052106 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr8:145052106G>A ENST00000313028.7 - 10 2794 c.2700C>T c.(2698-2700)caC>caT p.H900H PARP10_ENST00000525773.1_Silent_p.H912H|PARP10_ENST00000524918.1_Silent_p.H891H NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 900 Myc binding.|PARP catalytic. Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTTGAAGCCGTGGGCGCAGA 0.726000 3 32 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936735 4936735 + Silent SNP G G T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:4936735G>T ENST00000322013.3 - 1 187 c.159C>A c.(157-159)atC>atA p.I53I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGTTTTAATGATAAAAAGAA 0.507000 29 57 9.39395e-14 1.01522e-13 1 1 0 ENKD1 84080 broad.mit.edu 37 16 67698964 67698964 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr16:67698964G>A ENST00000243878.4 - 3 709 c.388C>T c.(388-390)Ctg>Ttg p.L130L ENKD1_ENST00000602644.1_Silent_p.L130L|ENKD1_ENST00000602409.1_5'UTR NM_032140.1 NP_115516.1 enkurin domain containing 1 AGAGCTTTCAGGGGCCTGGGC 0.597000 35 188 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235904826 235904826 + Missense_Mutation SNP A A C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:235904826A>C ENST00000389794.3 - 31 8428 c.8254T>G c.(8254-8256)Ttg>Gtg p.L2752V LYST_ENST00000389793.2_Missense_Mutation_p.L2752V Q99698 LYST_HUMAN lysosomal trafficking regulator 2752 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GCTGGCGACAAAATATGCACT 0.443000 21 59 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151261684 151261684 + Missense_Mutation SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:151261684C>G ENST00000368879.2 + 4 2506 c.2408C>G c.(2407-2409)tCt>tGt p.S803C NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 803 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCCTTCAAGTCTGGGCCAAGT 0.627000 13 101 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48599354 48599354 + Missense_Mutation SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:48599354C>G ENST00000323776.5 + 10 1460 c.1298C>G c.(1297-1299)tCt>tGt p.S433C MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S396C NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 396 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GCCAGTTCCTCTGATGTCTCC 0.507000 28 67 0 0 1 0 0 WDR19 57728 broad.mit.edu 37 4 39201122 39201122 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:39201122G>A ENST00000399820.3 + 6 585 c.431G>A c.(430-432)tGt>tAt p.C144Y WDR19_ENST00000288634.7_5'UTR|WDR19_ENST00000506503.1_Missense_Mutation_p.C144Y NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 144 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 AGAATCACTTGTGGATGTTGG 0.338000 7 40 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74385746 74385746 + Silent SNP A A C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr3:74385746A>C ENST00000263665.6 - 11 1455 c.1428T>G c.(1426-1428)acT>acG p.T476T NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 476 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TGCAGGTGTAAGTTCCAGCAT 0.353000 8 58 0 0 1 0 0 HVCN1 84329 broad.mit.edu 37 12 111099209 111099209 + Missense_Mutation SNP G G T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr12:111099209G>T ENST00000356742.5 - 3 819 c.66C>A c.(64-66)agC>agA p.S22R HVCN1_ENST00000439744.2_Missense_Mutation_p.S2R|HVCN1_ENST00000548312.1_Missense_Mutation_p.S22R|HVCN1_ENST00000242607.8_Missense_Mutation_p.S22R Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 22 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 TTAAGAACTTGCTCATCCTCT 0.577000 9 51 0.000442599 0.000457796 1 1 0 PRAMEF22 653606 broad.mit.edu 37 1 13036288 13036288 + Silent SNP A A C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:13036288A>C ENST00000376187.1 + 2 360 c.360A>C c.(358-360)ggA>ggC p.G120G PRAMEF6_ENST00000376192.5_Intron NM_001100631.1 NP_001094101.1 A3QJZ6 PRA22_HUMAN PRAME family member 22 120 kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 TATGGTCTGGAGCCAGGCCCC 0.522000 22 169 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 28 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40439968 40439968 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:40439968G>A ENST00000319592.4 - 4 1652 c.943C>T c.(943-945)Ctg>Ttg p.L315L RBM47_ENST00000295971.7_Silent_p.L315L|RBM47_ENST00000514014.1_Silent_p.L277L|RBM47_ENST00000381795.6_Silent_p.L315L|RBM47_ENST00000381793.2_Silent_p.L315L|RBM47_ENST00000515809.1_Intron A0AV96 RBM47_HUMAN RNA binding motif protein 47 315 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 GGCTTGGCCAGCGTGACCTCC 0.662000 6 73 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155025176 155025176 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:155025176G>C ENST00000356955.2 + 2 210 c.109G>C c.(109-111)Gag>Cag p.E37Q ADAM15_ENST00000447332.3_Missense_Mutation_p.Q46H|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Missense_Mutation_p.E37Q|ADAM15_ENST00000271836.6_Missense_Mutation_p.E37Q|ADAM15_ENST00000360674.4_Missense_Mutation_p.E37Q|ADAM15_ENST00000359280.4_Missense_Mutation_p.E37Q|ADAM15_ENST00000368413.1_Missense_Mutation_p.E37Q|ADAM15_ENST00000355956.2_Missense_Mutation_p.E37Q|ADAM15_ENST00000449910.2_Missense_Mutation_p.E37Q|ADAM15_ENST00000368412.3_Missense_Mutation_p.E37Q|ADAM15_ENST00000531455.1_Missense_Mutation_p.E47Q NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 37 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GGCAGAGTCAGAGAAGGCCCC 0.602000 OREG0013847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 12 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3779158 3779158 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr16:3779158G>A ENST00000262367.5 - 31 6699 c.5890C>T c.(5890-5892)Cgt>Tgt p.R1964C CREBBP_ENST00000382070.3_Missense_Mutation_p.R1926C NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1964 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGGGCCTCACGCTCGATCTGC 0.711000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 3 5 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14876137 14876137 + Missense_Mutation SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr19:14876137T>C ENST00000315576.3 - 10 1352 c.901A>G c.(901-903)Atc>Gtc p.I301V EMR2_ENST00000353876.1_Missense_Mutation_p.I208V|EMR2_ENST00000346057.1_Missense_Mutation_p.I252V|EMR2_ENST00000594076.1_Missense_Mutation_p.I208V|EMR2_ENST00000392964.3_Missense_Mutation_p.I40V|EMR2_ENST00000392965.3_Missense_Mutation_p.I301V|EMR2_ENST00000601345.1_Missense_Mutation_p.I301V|EMR2_ENST00000392967.2_Missense_Mutation_p.I301V|EMR2_ENST00000595839.1_Missense_Mutation_p.I159V|EMR2_ENST00000596991.2_Missense_Mutation_p.I301V|EMR2_ENST00000353005.1_Missense_Mutation_p.I159V|EMR2_ENST00000594294.1_Missense_Mutation_p.I252V NM_013447.3 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 301 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 CTTACCTGGATGGTGTTATTG 0.612000 28 104 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42331514 42331514 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr20:42331514G>C ENST00000217026.4 + 8 1463 c.1336G>C c.(1336-1338)Gtt>Ctt p.V446L MYBL2_ENST00000396863.4_Missense_Mutation_p.V422L NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 446 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GAGCACACCTGTTAAGACCCT 0.587000 19 73 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20673915 20673915 + Silent SNP C C T rs150429051 TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:20673915C>T ENST00000525748.1 + 15 2424 c.2151C>T c.(2149-2151)ctC>ctT p.L717L SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 717 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) CCATGGTGCTCGGATGGCTAA 0.453000 44 100 0 0 1 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70960244 70960244 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr10:70960244G>A ENST00000359655.4 + 11 1567 c.1507G>A c.(1507-1509)Gat>Aat p.D503N NM_003171.3 NP_003162.2 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 (S. cerevisiae) 503 Helicase C-terminal. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAGGCCTGTGGATCCTATAAG 0.433000 10 35 0 0 1 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197178 39197178 + Missense_Mutation SNP A A G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:39197178A>G ENST00000306271.4 - 1 535 c.472T>C c.(472-474)Tac>Cac p.Y158H NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 158 extracellular region|keratin filament NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGTCCACAGTAGGATGGGCGG 0.632000 7 50 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23326372 23326372 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr10:23326372G>C ENST00000298032.5 + 19 2667 c.2583G>C c.(2581-2583)ttG>ttC p.L861F ARMC3_ENST00000409983.3_Missense_Mutation_p.L854F|ARMC3_ENST00000376528.4_Missense_Mutation_p.L598F NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 861 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGATGAAGTTGAGAAGTCGAG 0.473000 18 52 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49176018 49176018 + Silent SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:49176018T>C ENST00000340334.7 - 17 1973 c.1605A>G c.(1603-1605)ccA>ccG p.P535P FOLH1_ENST00000356696.3_Silent_p.P550P|FOLH1_ENST00000533034.1_Silent_p.P535P|FOLH1_ENST00000256999.2_Silent_p.P550P|FOLH1_ENST00000343844.4_Silent_p.P242P NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 550 NAALADase.|Substrate binding. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TGTGATACAGTGGATAGCCGC 0.358000 6 33 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32398642 32398642 + Missense_Mutation SNP T T G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chrX:32398642T>G ENST00000357033.4 - 34 5036 c.4830A>C c.(4828-4830)gaA>gaC p.E1610D DMD_ENST00000378677.2_Missense_Mutation_p.E1606D NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1610 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CCCAGGCAACTTCAGAATCCA 0.363000 9 82 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37355564 37355564 + Splice_Site SNP T T A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr7:37355564T>A ENST00000310758.4 - 3 726 c.79A>T c.(79-81)Aaa>Taa p.K27* ELMO1_ENST00000442504.1_Splice_Site_p.K27*|ELMO1_ENST00000448602.1_Splice_Site_p.K27* NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 27 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 AGTGGTTTTTTCTGCAAAATA 0.284000 13 142 0 0 1 0 0 PPP1R32 220004 broad.mit.edu 37 11 61249873 61249873 + Missense_Mutation SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:61249873T>C ENST00000338608.2 + 3 325 c.200T>C c.(199-201)cTg>cCg p.L67P PPP1R32_ENST00000432063.2_Missense_Mutation_p.L67P|RP11-286N22.8_ENST00000544880.1_Intron NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 67 CAAGCCAGTCTGGAGGCCTTA 0.612000 OREG0021002 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 66 0 0 1 0 0 SDHAF2 54949 broad.mit.edu 37 11 61213481 61213481 + Missense_Mutation SNP A A G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:61213481A>G ENST00000301761.2 + 4 513 c.439A>G c.(439-441)Aaa>Gaa p.K147E SDHAF2_ENST00000543265.1_3'UTR|SDHAF2_ENST00000537782.1_3'UTR|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.K135E|RP11-286N22.8_ENST00000544880.1_Intron|SDHAF2_ENST00000542074.1_3'UTR NM_017841.2 NP_060311.1 Q9NX18 SDHF2_HUMAN succinate dehydrogenase complex assembly factor 2 147 mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage mitochondrion protein binding large_intestine(3)|lung(4)|ovary(2) 9 TGCTAAAAACAAAAACAAAGA 0.473000 OREG0021000 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 89 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75722684 75722684 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr15:75722684C>T ENST00000394947.3 - 2 347 c.33G>A c.(31-33)ccG>ccA p.P11P SIN3A_ENST00000360439.4_Silent_p.P11P|SIN3A_ENST00000394949.4_Silent_p.P11P|SIN3A_ENST00000567289.1_Silent_p.P11P NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 11 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CTGCATACACCGGTGACTCCT 0.552000 4 48 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 4 5 0 0 1 0 0 TPBG 7162 broad.mit.edu 37 6 83075791 83075791 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr6:83075791C>T ENST00000369750.3 + 2 1730 c.1113C>T c.(1111-1113)ctC>ctT p.L371L TPBG_ENST00000543496.1_Silent_p.L371L|TPBG_ENST00000535040.1_Silent_p.L371L Q13641 TPBG_HUMAN trophoblast glycoprotein 371 cell adhesion integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) CTATTTTCCTCCTGGTTTTGT 0.458000 11 66 0 0 1 0 0 KIAA0753 9851 broad.mit.edu 37 17 6502568 6502568 + Missense_Mutation SNP G G T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:6502568G>T ENST00000361413.3 - 14 2519 c.2161C>A c.(2161-2163)Cct>Act p.P721T KIAA0753_ENST00000589033.1_Missense_Mutation_p.P177T|KIAA0753_ENST00000542606.1_Missense_Mutation_p.P422T|KIAA0753_ENST00000572370.1_Missense_Mutation_p.P422T|KIAA0753_ENST00000575027.1_5'UTR NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 721 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) TCCTGTGCAGGCTGGGCTTTC 0.358000 5 32 0.014758 0.0148195 1 1 0 EHD3 30845 broad.mit.edu 37 2 31489523 31489523 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:31489523C>T ENST00000322054.5 + 6 1846 c.1561C>T c.(1561-1563)Ctg>Ttg p.L521L EHD3_ENST00000541626.1_3'UTR NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 521 EH. blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) GCCCAACGAGCTGCCTGCCCA 0.612000 17 140 0 0 1 0 0 CLDN7 1366 broad.mit.edu 37 17 7165263 7165263 + Missense_Mutation SNP A A C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:7165263A>C ENST00000538261.3 - 1 1001 c.100T>G c.(100-102)Tcc>Gcc p.S34A CLDN7_ENST00000571881.2_Missense_Mutation_p.S34A|CLDN7_ENST00000360325.7_Missense_Mutation_p.S34A|CLDN7_ENST00000397317.4_Missense_Mutation_p.S34A|RP1-4G17.5_ENST00000577138.1_Missense_Mutation_p.S34A NM_001185023.1 NP_001171952.1 O95471 CLD7_HUMAN claudin 7 34 calcium-independent cell-cell adhesion integral to membrane|lateral plasma membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 6 CCCGCATAGGAGCTCATCTGC 0.612000 4 34 0 0 1 0 0 WDR47 22911 broad.mit.edu 37 1 109566102 109566102 + Missense_Mutation SNP C C A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:109566102C>A ENST00000357672.3 - 2 408 c.33G>T c.(31-33)gaG>gaT p.E11D WDR47_ENST00000369965.4_Missense_Mutation_p.E11D|WDR47_ENST00000361054.3_Missense_Mutation_p.E11D|WDR47_ENST00000369962.3_Missense_Mutation_p.E11D|WDR47_ENST00000400794.3_Missense_Mutation_p.E11D O94967 WDR47_HUMAN WD repeat domain 47 11 LisH. breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) TGATTTCAACCTCTTTTACAT 0.348000 8 93 5.18039e-06 5.45185e-06 1 1 0 SYCE1 93426 broad.mit.edu 37 10 135371378 135371378 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr10:135371378C>T ENST00000368517.3 - 6 394 c.256G>A c.(256-258)Gag>Aag p.E86K SYCE1_ENST00000432597.2_Missense_Mutation_p.E86K|SYCE1_ENST00000343131.5_Missense_Mutation_p.E122K|SPRN_ENST00000541506.1_Intron NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 122 cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CTGTGTGCCTCACTTTCCTTT 0.517000 9 40 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129241309 129241309 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr5:129241309G>C ENST00000305031.4 + 1 1145 c.787G>C c.(787-789)Gat>Cat p.D263H CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 263 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) CGCCGACGACGATGTCTACAT 0.572000 17 132 0 0 1 0 0 CHORDC1 26973 broad.mit.edu 37 11 89938633 89938633 + Missense_Mutation SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:89938633C>G ENST00000529726.1 - 1 4013 c.100G>C c.(100-102)Gat>Cat p.D34H CHORDC1_ENST00000320585.6_Missense_Mutation_p.D222H|CHORDC1_ENST00000457199.2_Missense_Mutation_p.D203H|CHORDC1_ENST00000529987.1_Missense_Mutation_p.D34H Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain (CHORD) containing 1 222 CHORD 1.|Interaction with PPP5C (By similarity). chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding endometrium(2)|large_intestine(2)|liver(1)|lung(6) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) CTTACAGCATCTTTTTTAGTC 0.313000 14 28 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52570846 52570846 + Silent SNP A A G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr10:52570846A>G ENST00000374001.2 - 10 1553 c.1414T>C c.(1414-1416)Ttg>Ctg p.L472L A1CF_ENST00000282641.2_Silent_p.L480L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Silent_p.L472L|A1CF_ENST00000373993.1_Silent_p.L480L|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Silent_p.L480L|A1CF_ENST00000395489.2_Silent_p.L473L|A1CF_ENST00000395495.1_Silent_p.L425L Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding p.L480M(1)|p.L472M(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 ATTTTGTACAAGAATAGCTGT 0.393000 6 25 0 0 1 0 0 S100PBP 64766 broad.mit.edu 37 1 33295564 33295564 + Splice_Site SNP G G T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:33295564G>T ENST00000373475.5 + 5 1174 c.e5-1 S100PBP_ENST00000373476.1_Splice_Site|S100PBP_ENST00000356689.3_Splice_Site|S100PBP_ENST00000398243.3_Splice_Site NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CTTTATTCAAGGACTAATGTT 0.378000 13 55 5.50884e-06 5.7723e-06 1 1 0 STON1 11037 broad.mit.edu 37 2 48807857 48807857 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:48807857C>T ENST00000309835.3 + 1 95 c.85C>T c.(85-87)Ctg>Ttg p.L29L STON1-GTF2A1L_ENST00000394751.3_Silent_p.L29L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L29L|STON1_ENST00000406226.1_Silent_p.L29L|STON1_ENST00000404752.1_Silent_p.L29L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L29L|STON1-GTF2A1L_ENST00000394754.1_Silent_p.L29L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L29L stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GAATTTTCCTCTGGAGAATCA 0.468000 12 87 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96090504 96090504 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:96090504G>A ENST00000453304.1 - 16 3025 c.2677C>T c.(2677-2679)Ctg>Ttg p.L893L NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 893 Death. 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) CAAAGATCCAGGATTACGCCA 0.448000 8 82 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139753685 139753685 + Missense_Mutation SNP G G C rs145391466 byFrequency TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr9:139753685G>C ENST00000445819.1 + 27 3396 c.3346G>C c.(3346-3348)Ggc>Cgc p.G1116R MAMDC4_ENST00000317446.2_Missense_Mutation_p.G1037R|MAMDC4_ENST00000485732.1_3'UTR Q6UXC1 AEGP_HUMAN MAM domain containing 4 1116 MAM 6. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CACTCTGGGCGGCCAGCCAGC 0.657000 10 63 0 0 1 0 0 EVA1B 55194 broad.mit.edu 37 1 36788625 36788625 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:36788625C>T ENST00000270824.1 - 2 305 c.14G>A c.(13-15)cGa>cAa p.R5Q SH3D21_ENST00000474766.1_Intron|EVA1B_ENST00000490466.1_5'UTR NM_018166.1 NP_060636.1 eva-1 homolog B (C. elegans) CATGTCCCTTCGCGGGGCATC 0.672000 14 66 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153033836 153033836 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chrX:153033836G>A ENST00000538966.1 + 5 1559 c.1288G>A c.(1288-1290)Ggg>Agg p.G430R PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.G407R|PLXNB3_ENST00000538776.1_Missense_Mutation_p.G60R|PLXNB3_ENST00000538282.1_Missense_Mutation_p.G60R NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 407 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) CCAGGCAGATGGGCACATGAT 0.701000 8 34 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50804980 50804980 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr19:50804980G>A ENST00000440075.2 + 40 5579 c.5532G>A c.(5530-5532)ggG>ggA p.G1844G MYH14_ENST00000601313.1_Silent_p.G1844G|MYH14_ENST00000596571.1_Silent_p.G1803G|MYH14_ENST00000425460.1_Silent_p.G1811G|MYH14_ENST00000598205.1_Silent_p.G1811G|MYH14_ENST00000376970.2_Silent_p.G1836G|MYH14_ENST00000262269.8_Silent_p.G1844G Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1803 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CAGAGAGCGGGCGGCAGCAGC 0.622000 10 62 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20864424 20864424 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr12:20864424C>T ENST00000381552.1 + 5 877 c.509C>T c.(508-510)tCa>tTa p.S170L SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S170L|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S170L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S52L|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S170L Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 170 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) ATGGAAAAATCAAAATCCAAA 0.343000 9 63 0 0 1 0 0 ETNK1 55500 broad.mit.edu 37 12 22814095 22814095 + Missense_Mutation SNP A A G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr12:22814095A>G ENST00000266517.4 + 4 1012 c.923A>G c.(922-924)cAt>cGt p.H308R NM_018638.4 NP_061108.2 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 308 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GTGCTTTGCCATAATGACCTA 0.378000 16 70 0 0 1 0 0 NDUFAF7 55471 broad.mit.edu 37 2 37459293 37459293 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:37459293G>C ENST00000002125.4 + 2 140 c.100G>C c.(100-102)Gag>Cag p.E34Q NDUFAF7_ENST00000336237.6_Missense_Mutation_p.E34Q|NDUFAF7_ENST00000483999.1_Intron NM_144736.4 NP_653337.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 CTCCGGGAATGAGCCTGCAGA 0.473000 16 135 0 0 1 0 0 NFXL1 152518 broad.mit.edu 37 4 47857090 47857090 + Missense_Mutation SNP T T G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:47857090T>G ENST00000507489.1 - 20 2583 c.2407A>C c.(2407-2409)Aaa>Caa p.K803Q NFXL1_ENST00000381538.3_Missense_Mutation_p.K803Q NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 803 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 TTTATTCTTTTACAAGGACAT 0.299000 10 82 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196309549 196309549 + Nonsense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:196309549G>A ENST00000367433.5 - 16 1806 c.1705C>T c.(1705-1707)Cag>Tag p.Q569* KCNT2_ENST00000367431.4_Nonsense_Mutation_p.Q519*|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.Q180*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Nonsense_Mutation_p.Q569*|KCNT2_ENST00000609185.1_Nonsense_Mutation_p.Q519* NM_198503.2 NP_940905.2 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 569 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CTTTTTCTCTGCTGGTCTTGG 0.353000 7 72 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80376017 80376017 + Missense_Mutation SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr5:80376017T>C ENST00000265080.4 + 6 1032 c.965T>C c.(964-966)tTa>tCa p.L322S RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 322 DH. 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) ACTTTAATTTTAGGTAAGTGC 0.318000 11 55 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76781977 76781977 + Missense_Mutation SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:76781977C>G ENST00000286719.7 - 17 2461 c.2105G>C c.(2104-2106)cGg>cCg p.R702P NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 702 EF-hand 3. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATCAATGCTCCGAGCAAGGTC 0.493000 7 69 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143568 55143568 + Missense_Mutation SNP A A C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr19:55143568A>C ENST00000396331.1 + 6 898 c.541A>C c.(541-543)Atc>Ctc p.I181L LILRB1_ENST00000448689.1_Missense_Mutation_p.I181L|LILRB1_ENST00000396317.1_Missense_Mutation_p.I181L|LILRB1_ENST00000396327.3_Missense_Mutation_p.I181L|LILRB1_ENST00000418536.2_Missense_Mutation_p.I181L|LILRB1_ENST00000396321.2_Missense_Mutation_p.I181L|LILRB1_ENST00000434867.2_Missense_Mutation_p.I181L|LILRB1_ENST00000324602.7_Missense_Mutation_p.I181L|LILRB1_ENST00000396315.1_Missense_Mutation_p.I181L|LILRB1_ENST00000427581.2_Missense_Mutation_p.I217L|LILRB1_ENST00000396332.4_Missense_Mutation_p.I181L NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 181 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GTCCCGCGCCATCTTCTCCGT 0.572000 HNSCC(37;0.09) 31 163 0 0 1 0 0 SLC25A25 114789 broad.mit.edu 37 9 130854274 130854274 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr9:130854274C>T ENST00000373066.5 + 1 532 c.125C>T c.(124-126)gCa>gTa p.A42V SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000432073.2_Missense_Mutation_p.A42V|RP11-379C10.4_ENST00000453870.1_RNA NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 0 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 GACCAGATGGCAAGCTTTTTG 0.577000 54 177 0 0 1 0 0 TNFRSF10B 8795 broad.mit.edu 37 8 22880288 22880288 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr8:22880288C>T ENST00000276431.4 - 9 1503 c.1219G>A c.(1219-1221)Gag>Aag p.E407K TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.E227K|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.E378K NM_003842.4|NM_147187.2 NP_003833.4|NP_671716.2 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, member 10b 407 Death. activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) CCCAGCGTCTCCAAGGCATCC 0.532000 10 82 0 0 1 0 0 PGAM2 5224 broad.mit.edu 37 7 44104487 44104487 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr7:44104487C>T ENST00000297283.3 - 2 596 c.539G>A c.(538-540)cGa>cAa p.R180Q NM_000290.3 NP_000281.2 P15259 PGAM2_HUMAN phosphoglycerate mutase 2 (muscle) 180 gluconeogenesis|glycolysis|striated muscle contraction cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity large_intestine(2)|lung(4)|ovary(1)|stomach(1) 8 AATGAGCACTCGCTTGCCGGC 0.652000 9 24 0 0 1 0 0 CPOX 1371 broad.mit.edu 37 3 98304345 98304345 + Missense_Mutation SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr3:98304345T>C ENST00000264193.2 - 5 1330 c.1112A>G c.(1111-1113)aAg>aGg p.K371R NM_000097.5 NP_000088.3 P36551 HEM6_HUMAN coproporphyrinogen oxidase 371 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 ATCACAGTGCTTTTTCACAAG 0.488000 5 336 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197032154 197032154 + Missense_Mutation SNP C C A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:197032154C>A ENST00000367412.1 - 2 141 c.98G>T c.(97-99)gGa>gTa p.G33V NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 33 Sushi 1. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 GGCAATTCTTCCATTTTCCAC 0.318000 43 147 1.62263e-30 1.77751e-30 1 1 0 OR5J2 282775 broad.mit.edu 37 11 55944688 55944688 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:55944688C>T ENST00000312298.1 + 1 595 c.595C>T c.(595-597)Ctg>Ttg p.L199L NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L199M(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) TGAGTTGTTGCTGTTAACCTT 0.453000 284 88 0 0 1 0 0 SCNM1 79005 broad.mit.edu 37 1 151141526 151141526 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:151141526G>A ENST00000368905.4 + 7 769 c.658G>A c.(658-660)Gat>Aat p.D220N NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 220 mRNA processing|RNA splicing nucleus metal ion binding|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTTTGACTCTGATGAGGAGGA 0.423000 11 95 0 0 1 0 0 TMEM67 91147 broad.mit.edu 37 8 94827587 94827587 + Missense_Mutation SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr8:94827587T>C ENST00000453321.3 + 27 2877 c.2819T>C c.(2818-2820)cTt>cCt p.L940P TMEM67_ENST00000409623.3_Missense_Mutation_p.L859P NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 940 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GCTACTCTTCTTATTTTTGAT 0.284000 5 23 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58577645 58577645 + Missense_Mutation SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr16:58577645C>G ENST00000317147.5 - 31 4632 c.4300G>C c.(4300-4302)Gaa>Caa p.E1434Q CNOT1_ENST00000441024.2_Missense_Mutation_p.E1434Q|CNOT1_ENST00000569240.1_Missense_Mutation_p.E1429Q|CNOT1_ENST00000245138.4_Missense_Mutation_p.E285Q NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1434 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ATTCGAGATTCCTCCGAATCC 0.463000 20 45 0 0 1 0 0 LPAR6 10161 broad.mit.edu 37 13 48986488 48986488 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr13:48986488G>A ENST00000378434.4 - 7 1696 c.72C>T c.(70-72)ttC>ttT p.F24F LPAR6_ENST00000345941.2_Silent_p.F24F|RB1_ENST00000267163.4_Intron NM_005767.5 NP_005758.2 P43657 LPAR6_HUMAN lysophosphatidic acid receptor 6 24 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.0?(15)|p.?(4) NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 14 ACACCATGCTGAACATGCACC 0.398000 7 45 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23080278 23080278 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr16:23080278C>T ENST00000219689.7 - 16 3147 c.3148G>A c.(3148-3150)Gag>Aag p.E1050K USP31_ENST00000567975.1_Missense_Mutation_p.E343K NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1050 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) AGGGATGACTCCTGGCTTGCC 0.522000 12 99 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151101574 151101574 + Missense_Mutation SNP G G T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr3:151101574G>T ENST00000474524.1 + 32 4621 c.4583G>T c.(4582-4584)gGa>gTa p.G1528V P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G1388V NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1528 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAGGTAGGAGGAATGTTTGAC 0.403000 4 41 0.00116845 0.0011932 1 1 0 SAP30 8819 broad.mit.edu 37 4 174294599 174294599 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:174294599G>A ENST00000296504.3 + 2 614 c.374G>A c.(373-375)aGa>aAa p.R125K NM_003864.3 NP_003855.1 O75446 SAP30_HUMAN Sin3A-associated protein, 30kDa 125 Interaction with NCOR1 (By similarity). transcription, DNA-dependent histone deacetylase complex DNA binding|metal ion binding|protein binding|transcription corepressor activity large_intestine(1)|lung(2)|ovary(1) 4 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919) GTTCGAAACAGAAGAAAGAGA 0.343000 12 103 0 0 1 0 0 SGSM2 9905 broad.mit.edu 37 17 2278935 2278935 + Silent SNP A A T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:2278935A>T ENST00000268989.3 + 18 2427 c.2250A>T c.(2248-2250)tcA>tcT p.S750S SGSM2_ENST00000426855.2_Silent_p.S705S|SGSM2_ENST00000574563.1_Silent_p.S705S|RP1-59D14.5_ENST00000574290.1_RNA NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 705 Rab-GAP TBC. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) CTCCAGACTCAGGACTGCCCT 0.627000 12 105 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48598774 48598774 + Missense_Mutation SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:48598774C>G ENST00000323776.5 + 9 1421 c.1259C>G c.(1258-1260)tCt>tGt p.S420C MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S383C NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 383 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GGAAGCTCCTCTGAAGACACA 0.537000 3 10 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123196823 123196823 + Silent SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chrX:123196823C>G ENST00000371160.1 + 18 2000 c.1710C>G c.(1708-1710)gcC>gcG p.A570A STAG2_ENST00000371157.3_Silent_p.A570A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.A570A|STAG2_ENST00000371144.3_Silent_p.A570A|STAG2_ENST00000371145.3_Silent_p.A570A|STAG2_ENST00000354548.5_Silent_p.A501A NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 570 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TTGCCGTGGCCCTTCCTCAGT 0.358000 11 28 0 0 1 0 0 GPR64 10149 broad.mit.edu 37 X 19013027 19013027 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chrX:19013027G>C ENST00000379878.3 - 27 3049 c.2808C>G c.(2806-2808)caC>caG p.H936Q GPR64_ENST00000356606.4_Missense_Mutation_p.H938Q|GPR64_ENST00000340581.3_Missense_Mutation_p.H833Q|GPR64_ENST00000360279.4_Missense_Mutation_p.H930Q|GPR64_ENST00000357991.3_Missense_Mutation_p.H949Q|GPR64_ENST00000379873.2_Intron|GPR64_ENST00000379876.1_Missense_Mutation_p.H928Q|GPR64_ENST00000379869.3_Missense_Mutation_p.H952Q|GPR64_ENST00000354791.3_Missense_Mutation_p.H936Q|GPR64_ENST00000357544.3_Missense_Mutation_p.H922Q NM_001184833.1 NP_001171762.1 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 952 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TCCCGCTTGCGTGTACTGAGC 0.373000 20 65 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113761588 113761588 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr3:113761588G>A ENST00000295878.3 - 4 523 c.377C>T c.(376-378)cCg>cTg p.P126L KIAA1407_ENST00000545063.1_5'UTR NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 126 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 ATTGGCTTCCGGCATAATAGT 0.373000 9 69 0 0 1 0 0 XKR8 55113 broad.mit.edu 37 1 28293439 28293439 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:28293439C>T ENST00000373884.5 + 3 1524 c.916C>T c.(916-918)Cat>Tat p.H306Y NM_018053.2 NP_060523.2 Q9H6D3 XKR8_HUMAN XK, Kell blood group complex subunit-related family, member 8 306 integral to membrane endometrium(1)|large_intestine(2)|lung(1) 4 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526) CTGGGTGACTCATAGCTCCTG 0.632000 6 52 0 0 1 0 0 ZNF517 340385 broad.mit.edu 37 8 146029031 146029031 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr8:146029031G>A ENST00000359971.3 + 3 146 c.39G>A c.(37-39)gcG>gcA p.A13A ZNF517_ENST00000525105.1_Silent_p.A13A|ZNF517_ENST00000531720.1_Silent_p.A13A|ZNF517_ENST00000526178.1_Intron NM_213605.2 NP_998770.2 Q6ZMY9 ZN517_HUMAN zinc finger protein 517 13 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) TGCAGGAGGCGGTTGTGTTCG 0.552000 13 89 0 0 1 0 0 ZFYVE19 84936 broad.mit.edu 37 15 41102355 41102355 + Missense_Mutation SNP A A G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr15:41102355A>G ENST00000355341.4 + 5 1159 c.658A>G c.(658-660)Atg>Gtg p.M220V ZFYVE19_ENST00000299173.10_Missense_Mutation_p.M220V|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.M45V|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.M210V|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.M197V NM_001077268.1 NP_001070736.1 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 220 zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) CACCCAGGAAATGGAGGCACG 0.577000 10 58 0 0 1 0 0 RSC1A1 6248 broad.mit.edu 37 1 15986433 15986433 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:15986433G>C ENST00000345034.1 + 1 70 c.70G>C c.(70-72)Ggt>Cgt p.G24R DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 24 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1) 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCCTGATGTTGGTAATCCTAT 0.468000 26 206 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 4 57 0 0 1 0 0 OGG1 4968 broad.mit.edu 37 3 9807722 9807722 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr3:9807722G>A ENST00000302036.7 + 7 1521 c.1178G>A c.(1177-1179)aGa>aAa p.R393K OGG1_ENST00000349503.5_Missense_Mutation_p.R326K|OGG1_ENST00000302008.8_3'UTR|CAMK1_ENST00000256460.3_Intron|OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000383826.5_3'UTR NM_016821.2 NP_058214.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase 0 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) cctggctccagagatggtcac 0.557000 Base excision repair (BER), DNA glycosylases 5 23 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78305193 78305193 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr15:78305193C>T ENST00000409931.3 - 9 2313 c.2242G>A c.(2242-2244)Gat>Aat p.D748N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.D748N Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 748 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 TAGCCGATATCTGGATTCCGC 0.537000 9 31 0 0 1 0 0 LACC1 144811 broad.mit.edu 37 13 44455284 44455284 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr13:44455284G>A ENST00000441843.1 + 2 648 c.163G>A c.(163-165)Gat>Aat p.D55N LACC1_ENST00000325686.6_Missense_Mutation_p.D55N NM_001128303.1 NP_001121775.1 Q8IV20 CM031_HUMAN laccase (multicopper oxidoreductase) domain containing 1 55 CTATGAAAGGGATGGAGAACA 0.408000 7 55 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65415012 65415012 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chrX:65415012G>A ENST00000519389.1 + 9 1783 c.1604G>A c.(1603-1605)aGc>aAc p.S535N HEPH_ENST00000336279.5_Missense_Mutation_p.S214N|HEPH_ENST00000374727.3_Missense_Mutation_p.S484N|HEPH_ENST00000419594.1_Missense_Mutation_p.S484N|HEPH_ENST00000343002.2_Missense_Mutation_p.S481N|HEPH_ENST00000441993.2_Missense_Mutation_p.S484N Q9BQS7 HEPH_HUMAN hephaestin 481 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CAGCCATTCAGCATGCAGCCC 0.522000 6 21 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42179669 42179669 + Silent SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr8:42179669C>G ENST00000520810.1 + 18 2022 c.1836C>G c.(1834-1836)ctC>ctG p.L612L IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.L610L|IKBKB_ENST00000416505.2_Silent_p.L553L|IKBKB_ENST00000379708.3_Silent_p.L389L NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 612 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 transcription, DNA-dependent|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) ATACGCAGCTCAGGTATGAGC 0.547000 71 44 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44841220 44841220 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr21:44841220G>A ENST00000270162.6 - 6 659 c.527C>T c.(526-528)tCa>tTa p.S176L NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 176 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 AGGCTCTCCTGACTTGTAGAA 0.562000 27 135 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13669417 13669417 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr3:13669417C>T ENST00000404922.3 + 11 2636 c.2517C>T c.(2515-2517)gcC>gcT p.A839A FBLN2_ENST00000492059.1_Silent_p.A839A|FBLN2_ENST00000535798.1_Silent_p.A818A|FBLN2_ENST00000295760.7_Silent_p.A792A NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 838 EGF-like 5; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) ACTGCCAGGCCAGGCAGCGCT 0.637000 15 87 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65808022 65808022 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr15:65808022C>T ENST00000341861.5 - 1 1589 c.9G>A c.(7-9)aaG>aaA p.K3K DPP8_ENST00000321147.6_Silent_p.K3K|DPP8_ENST00000300141.6_Intron|DPP8_ENST00000559233.1_Silent_p.K3K|DPP8_ENST00000321118.7_Silent_p.K3K|DPP8_ENST00000358939.4_Intron|DPP8_ENST00000339244.5_Silent_p.K3K NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 3 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GCTCAGATCTCTTCCACATTC 0.443000 7 26 0 0 1 0 0 ZNF791 163049 broad.mit.edu 37 19 12738587 12738587 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr19:12738587G>C ENST00000343325.4 + 4 406 c.244G>C c.(244-246)Gaa>Caa p.E82Q ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.E50Q|ZNF791_ENST00000446165.1_Missense_Mutation_p.Q61H|ZNF791_ENST00000540038.1_5'UTR NM_153358.2 NP_699189.2 Q3KP31 ZN791_HUMAN zinc finger protein 791 82 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 TCAATGTGCAGAAAACTTCAG 0.418000 38 130 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132502854 132502854 + Missense_Mutation SNP A A G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr12:132502854A>G ENST00000333577.4 + 22 4427 c.4318A>G c.(4318-4320)Atg>Gtg p.M1440V EP400_ENST00000389561.2_Missense_Mutation_p.M1404V|EP400_ENST00000389562.2_Missense_Mutation_p.M1403V|EP400_ENST00000332482.4_Missense_Mutation_p.M1367V|EP400_ENST00000330386.6_Missense_Mutation_p.M1404V Q96L91 EP400_HUMAN E1A binding protein p400 1440 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GCGGAAACTCATGGAGGAAAT 0.532000 16 44 0 0 1 0 0 CEP85L 387119 broad.mit.edu 37 6 118790378 118790378 + Missense_Mutation SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr6:118790378C>G ENST00000368491.3 - 12 2732 c.2111G>C c.(2110-2112)cGg>cCg p.R704P CEP85L_ENST00000368488.5_Missense_Mutation_p.R707P NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 704 centrosome AAATAGTGGCCGTTTGGAAAG 0.418000 6 97 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50804981 50804981 + Silent SNP C C A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr19:50804981C>A ENST00000440075.2 + 40 5580 c.5533C>A c.(5533-5535)Cgg>Agg p.R1845R MYH14_ENST00000601313.1_Silent_p.R1845R|MYH14_ENST00000596571.1_Silent_p.R1804R|MYH14_ENST00000425460.1_Silent_p.R1812R|MYH14_ENST00000598205.1_Silent_p.R1812R|MYH14_ENST00000376970.2_Silent_p.R1837R|MYH14_ENST00000262269.8_Silent_p.R1845R Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1804 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) AGAGAGCGGGCGGCAGCAGCT 0.622000 10 63 1.08611e-07 1.15309e-07 1 1 0 F11 2160 broad.mit.edu 37 4 187201487 187201487 + Missense_Mutation SNP C C T rs28934608 TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:187201487C>T ENST00000264692.4 + 9 1153 c.820C>T c.(820-822)Cgc>Tgc p.R274C F11_ENST00000403665.2_Missense_Mutation_p.R326C P03951 FA11_HUMAN coagulation factor XI 326 Apple 3. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) CAATGCCGTCCGCTGCCAGTT 0.488000 14 143 0 0 1 0 0 TCF21 6943 broad.mit.edu 37 6 134210675 134210675 + Missense_Mutation SNP G G A rs144842546 TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr6:134210675G>A ENST00000367882.4 + 1 400 c.140G>A c.(139-141)gGg>gAg p.G47E TCF21_ENST00000237316.3_Missense_Mutation_p.G47E|RP3-323P13.2_ENST00000607573.1_RNA NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 47 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) TGCGAGAATGGGTCTCCCCAG 0.602000 4 40 0 0 1 0 0 MEP1B 4225 broad.mit.edu 37 18 29788197 29788197 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr18:29788197G>A ENST00000269202.6 + 9 929 c.882G>A c.(880-882)ggG>ggA p.G294G MEP1B_ENST00000581447.1_Silent_p.G294G NM_005925.2 NP_005916.2 Q16820 MEP1B_HUMAN meprin A, beta 294 MAM. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TTCCCAGGGGGCCAGAGAGTG 0.483000 10 97 0 0 1 0 0 ZNF565 147929 broad.mit.edu 37 19 36673827 36673827 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr19:36673827G>C ENST00000355114.5 - 5 1887 c.1161C>G c.(1159-1161)agC>agG p.S387R ZNF565_ENST00000304116.5_Missense_Mutation_p.S347R|ZNF565_ENST00000392173.2_Missense_Mutation_p.S347R Q8N9K5 ZN565_HUMAN zinc finger protein 565 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(4)|ovary(1)|skin(2) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) TAACTTCTGAGCTGTGAATAA 0.488000 12 72 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117631323 117631323 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr6:117631323C>T ENST00000368508.3 - 40 6553 c.6355G>A c.(6355-6357)Ggg>Agg p.G2119R ROS1_ENST00000368507.3_Missense_Mutation_p.G2113R NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2119 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGGCCTTCCCCTCTCTTTCTA 0.443000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 15 112 0 0 1 0 0 CCDC110 256309 broad.mit.edu 37 4 186380050 186380050 + Missense_Mutation SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:186380050T>C ENST00000307588.3 - 6 1766 c.1691A>G c.(1690-1692)aAt>aGt p.N564S CCDC110_ENST00000510617.1_Missense_Mutation_p.N564S|CCDC110_ENST00000393540.3_Missense_Mutation_p.N527S NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 564 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) CATTCGATTATTTTCATTATT 0.299000 10 19 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119027295 119027295 + Missense_Mutation SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:119027295C>G ENST00000307417.3 + 8 1196 c.832C>G c.(832-834)Cag>Gag p.Q278E ABCG4_ENST00000449422.2_Missense_Mutation_p.Q278E|ABCG4_ENST00000531739.1_Missense_Mutation_p.Q278E NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 278 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GAGCCAGGGTCAGTGCATCTT 0.572000 49 122 0 0 1 0 0 NAP1L1 4673 broad.mit.edu 37 12 76461248 76461248 + Nonsense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr12:76461248G>A ENST00000261182.8 - 4 595 c.109C>T c.(109-111)Cag>Tag p.Q37* NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.Q37*|NAP1L1_ENST00000552342.1_Nonsense_Mutation_p.Q37*|NAP1L1_ENST00000542344.1_5'UTR|NAP1L1_ENST00000548044.1_5'UTR|NAP1L1_ENST00000431879.3_5'UTR|NAP1L1_ENST00000549596.1_Nonsense_Mutation_p.Q37*|NAP1L1_ENST00000535020.2_Nonsense_Mutation_p.Q37*|NAP1L1_ENST00000544816.1_Intron|NAP1L1_ENST00000547773.1_Intron NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 37 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) ACAGTTAGCTGACGTGCTTTA 0.358000 10 50 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:186544317G>A ENST00000431808.1 - 14 2817 c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000319471.9_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 752 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.P752S(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CTGTTGTCCGGCAAGCTCCCC 0.522000 6 288 0 0 1 0 0 SMURF2 64750 broad.mit.edu 37 17 62568017 62568017 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:62568017G>C ENST00000262435.9 - 10 1102 c.915C>G c.(913-915)atC>atG p.I305M SMURF2_ENST00000578200.1_Intron NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 305 WW 3. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) CCGTATTACGGATCTCCCATC 0.398000 4 37 0 0 1 0 0 TMED1 11018 broad.mit.edu 37 19 10945678 10945678 + Nonsense_Mutation SNP C C A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr19:10945678C>A ENST00000214869.2 - 3 495 c.397G>T c.(397-399)Gag>Tag p.E133* TMED1_ENST00000588289.1_5'UTR|TMED1_ENST00000591695.1_Intron NM_006858.2 NP_006849.1 Q13445 TMED1_HUMAN transmembrane emp24 protein transport domain containing 1 133 cell-cell signaling|signal transduction|transport integral to membrane|plasma membrane receptor binding breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1) 10 CCTTCGACCTCCTCGTCATCC 0.562000 21 160 5.26018e-13 5.65939e-13 1 1 0 MYH3 4621 broad.mit.edu 37 17 10545863 10545863 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:10545863C>T ENST00000583535.1 - 16 1846 c.1759G>A c.(1759-1761)Gtg>Atg p.V587M MYH3_ENST00000226209.7_Missense_Mutation_p.V587M NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 587 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.V587M(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CTGTAGTCCACGGTGCCCGCA 0.547000 18 144 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58604790 58604790 + Silent SNP A A G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr14:58604790A>G ENST00000267485.7 - 2 1481 c.1287T>C c.(1285-1287)gaT>gaC p.D429D C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 429 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 AAAACAGGGCATCGTTTTCCT 0.418000 8 55 0 0 1 0 0 ATP5I 521 broad.mit.edu 37 4 667176 667176 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:667176G>A ENST00000304312.4 - 3 196 c.106C>T c.(106-108)Cgg>Tgg p.R36W ATP5I_ENST00000506525.1_5'UTR NM_007100.3 NP_009031.1 P56385 ATP5I_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E 36 ATP catabolic process|respiratory electron transport chain hydrogen ion transmembrane transporter activity lung(1)|skin(1) 2 TCTTCTGCCCGAGGTTTTAGG 0.468000 22 61 0 0 1 0 0 NSFL1C 55968 broad.mit.edu 37 20 1424401 1424401 + Nonsense_Mutation SNP A A C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr20:1424401A>C ENST00000216879.4 - 9 1973 c.1106T>G c.(1105-1107)tTa>tGa p.L369* NSFL1C_ENST00000350991.4_Nonsense_Mutation_p.L371*|NSFL1C_ENST00000381658.4_Nonsense_Mutation_p.L258*|NSFL1C_ENST00000353088.2_Nonsense_Mutation_p.L338*|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Nonsense_Mutation_p.L371* NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 369 chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 CGGTTATGTTAACCGCTGCAC 0.587000 5 31 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67322218 67322218 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr16:67322218G>A ENST00000360461.5 + 19 5904 c.3369G>A c.(3367-3369)ctG>ctA p.L1123L PLEKHG4_ENST00000450733.1_Silent_p.L1042L|PLEKHG4_ENST00000379344.3_Silent_p.L1123L|PLEKHG4_ENST00000427155.2_Silent_p.L1123L NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 1123 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) CAGCTCTTCTGGGTCTCCGCT 0.622000 6 111 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179600722 179600722 + Silent SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:179600722T>C ENST00000589042.1 - 50 14675 c.14451A>G c.(14449-14451)acA>acG p.T4817T TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.T4500T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T3573T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4500 Ig-like 28. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCCTGTCACTGTGCAGATGA 0.463000 12 51 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52277750 52277750 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:52277750C>T ENST00000354831.7 - 17 2088 c.1899G>A c.(1897-1899)gtG>gtA p.V633V NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.V565V|NRD1_ENST00000544028.1_Silent_p.V433V|NRD1_ENST00000539524.1_Silent_p.V501V NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 564 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ACATGTTTTCCACATACTCAA 0.373000 11 50 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2430643 2430643 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:2430643C>T ENST00000449969.1 + 19 2635 c.2474C>T c.(2473-2475)aCg>aTg p.T825M PLCH2_ENST00000378488.3_Missense_Mutation_p.T816M|PLCH2_ENST00000378486.3_Missense_Mutation_p.T852M|PLCH2_ENST00000419816.2_Missense_Mutation_p.T852M|PLCH2_ENST00000288766.5_Missense_Mutation_p.T140M O75038 PLCH2_HUMAN phospholipase C, eta 2 852 C2. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGCCAGAGGACGCTGGCCTTC 0.647000 10 33 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23812158 23812158 + Missense_Mutation SNP G G T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr15:23812158G>T ENST00000314520.3 + 1 1705 c.1229G>T c.(1228-1230)tGc>tTc p.C410F MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 410 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) AGGGGTAACTGCCCATTTGGA 0.527000 10 79 7.48243e-07 7.90906e-07 1 1 0 NBPF15 284565 broad.mit.edu 37 1 148594621 148594621 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:148594621G>A ENST00000442702.2 + 21 3061 c.1994G>A c.(1993-1995)gGa>gAa p.G665E NBPF15_ENST00000369187.3_Missense_Mutation_p.G665E NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 665 NBPF 6. cytoplasm p.G665E(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) TTCCAGATGGGAGTCATATTC 0.443000 66 112 0 0 1 0 0 PSMG2 56984 broad.mit.edu 37 18 12725500 12725500 + Silent SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr18:12725500T>C ENST00000317615.6 + 7 1447 c.765T>C c.(763-765)ttT>ttC p.F255F PSMG2_ENST00000585331.2_Silent_p.F224F NM_020232.4 NP_064617.2 Q969U7 PSMG2_HUMAN proteasome (prosome, macropain) assembly chaperone 2 255 proteasome assembly nucleus protein binding lung(1)|prostate(2)|skin(1) 4 GATTACTCTTTGGCAGTGGTC 0.368000 19 100 0 0 1 0 0 NEU3 10825 broad.mit.edu 37 11 74716798 74716798 + Missense_Mutation SNP T T A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:74716798T>A ENST00000294064.4 + 3 1574 c.647T>A c.(646-648)aTc>aAc p.I216N NEU3_ENST00000545272.1_Missense_Mutation_p.I107N|NEU3_ENST00000531509.1_Missense_Mutation_p.I216N|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000544263.1_Missense_Mutation_p.I183N|NEU3_ENST00000529024.1_Intron NM_006656.5 NP_006647.3 A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 216 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 ACCTACTACATCCCTTCCTGG 0.532000 24 114 0 0 1 0 0 EN1 2019 broad.mit.edu 37 2 119604405 119604405 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:119604405C>T ENST00000295206.6 - 1 849 c.339G>A c.(337-339)ccG>ccA p.P113P NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 113 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 AGCCGAAGTCCGGCCTCAGGA 0.687000 19 49 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140281771 140281771 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:140281771G>A ENST00000296543.5 + 13 1851 c.1528G>A c.(1528-1530)Gag>Aag p.E510K NAA15_ENST00000398947.1_Missense_Mutation_p.E510K NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 510 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GAAATGTCATGAGATTGAGAG 0.323000 9 57 0 0 1 0 0 EVX2 344191 broad.mit.edu 37 2 176945543 176945543 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:176945543C>T ENST00000308618.4 - 3 859 c.723G>A c.(721-723)atG>atA p.M241I NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 241 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) GCTTGTCCTTCATGCGCCGGT 0.692000 8 30 0 0 1 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96992694 96992694 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:96992694C>T ENST00000361124.4 + 1 760 c.349C>T c.(349-351)Ctg>Ttg p.L117L ITPRIPL1_ENST00000542887.1_Silent_p.L101L|ITPRIPL1_ENST00000439118.2_Silent_p.L109L|ITPRIPL1_ENST00000536814.1_Silent_p.L101L NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 109 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGGCTGGATGCTGGGAAACCT 0.562000 15 96 0 0 1 0 0 EIF2B2 8892 broad.mit.edu 37 14 75470322 75470322 + Missense_Mutation SNP T T G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr14:75470322T>G ENST00000266126.5 + 3 433 c.353T>G c.(352-354)cTa>cGa p.L118R NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 118 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) TCCGGAGGCCTAAACGAGGAT 0.522000 5 68 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135621 156135621 + Missense_Mutation SNP C C T rs144347274 TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:156135621C>T ENST00000329476.3 + 2 1019 c.530C>T c.(529-531)gCc>gTc p.A177V NPY2R_ENST00000506608.1_Missense_Mutation_p.A177V NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 177 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) GGCATCAGTGCCCTGCTGGCA 0.557000 24 40 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38923904 38923904 + Splice_Site SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:38923904T>C ENST00000335552.4 - 7 1237 c.1189A>G c.(1189-1191)Aaa>Gaa p.K397E NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 397 Tail. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) GATTTGCTTTTTCTGTGAAGA 0.318000 7 59 0 0 1 0 0 R3HDM2 22864 broad.mit.edu 37 12 57674219 57674219 + Missense_Mutation SNP C C A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr12:57674219C>A ENST00000402412.1 - 14 1656 c.1266G>T c.(1264-1266)caG>caT p.Q422H R3HDM2_ENST00000441731.2_Missense_Mutation_p.Q69H|R3HDM2_ENST00000403821.2_Missense_Mutation_p.Q408H|R3HDM2_ENST00000358907.2_Missense_Mutation_p.Q408H|R3HDM2_ENST00000347140.3_Missense_Mutation_p.Q408H|R3HDM2_ENST00000413953.2_Missense_Mutation_p.Q135H|RP11-123K3.4_ENST00000548184.1_3'UTR Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 408 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 gctgctgctgctgctgttgct 0.572000 9 76 1.12685e-05 1.17056e-05 1 1 0 ADAR 103 broad.mit.edu 37 1 154574770 154574770 + Missense_Mutation SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:154574770C>G ENST00000368474.4 - 2 547 c.348G>C c.(346-348)agG>agC p.R116S ADAR_ENST00000292205.5_Missense_Mutation_p.R159S|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR NM_001111.4|NM_015840.3|NM_015841.3 NP_001102|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 116 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GTGGCAGACTCCTGCCACGTG 0.542000 10 109 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283597 152283597 + Missense_Mutation SNP T T G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:152283597T>G ENST00000368799.1 - 3 3800 c.3765A>C c.(3763-3765)gaA>gaC p.E1255D FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1255 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) CCGATGATTGTTCCTGTCCCA 0.567000 Ichthyosis 36 432 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34534400 34534400 + Missense_Mutation SNP T T G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr15:34534400T>G ENST00000354181.3 - 17 2557 c.2065A>C c.(2065-2067)Agt>Cgt p.S689R SLC12A6_ENST00000397702.2_Missense_Mutation_p.S630R|SLC12A6_ENST00000451844.2_Missense_Mutation_p.S501R|SLC12A6_ENST00000290209.5_Missense_Mutation_p.S638R|SLC12A6_ENST00000560611.1_Missense_Mutation_p.S689R|SLC12A6_ENST00000397707.2_Missense_Mutation_p.S674R|SLC12A6_ENST00000558667.1_Missense_Mutation_p.S689R|SLC12A6_ENST00000558589.1_Missense_Mutation_p.S680R|SLC12A6_ENST00000560164.1_Missense_Mutation_p.S501R|SLC12A6_ENST00000458406.2_Missense_Mutation_p.S630R Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 689 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AGACAGATACTCATTCCCATG 0.363000 19 67 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43012990 43012990 + Missense_Mutation SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr6:43012990T>C ENST00000535468.1 - 15 3351 c.3265A>G c.(3265-3267)Agg>Ggg p.R1089G CUL7_ENST00000265348.3_Missense_Mutation_p.R1005G NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 1005 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) AGGAGGCTCCTGCGGTCCTCT 0.582000 9 59 0 0 1 0 0 POU4F2 5458 broad.mit.edu 37 4 147561864 147561864 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:147561864C>T ENST00000281321.3 + 2 1382 c.1134C>T c.(1132-1134)atC>atT p.I378I NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 378 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) TCGCCGCCATCGCGGAGAAGC 0.552000 16 109 0 0 1 0 0 UNC45A 55898 broad.mit.edu 37 15 91496417 91496417 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr15:91496417C>T ENST00000394275.2 + 22 3244 c.2409C>T c.(2407-2409)gaC>gaT p.D803D AC068831.6_ENST00000553321.1_RNA|UNC45A_ENST00000418476.2_Silent_p.D818D NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 818 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) AGGGCAATGACCGACTGAAGC 0.617000 14 107 0 0 1 0 0 FAM102A 399665 broad.mit.edu 37 9 130710371 130710371 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr9:130710371G>A ENST00000373095.1 - 6 970 c.595C>T c.(595-597)Cgg>Tgg p.R199W FAM102A_ENST00000373084.4_Missense_Mutation_p.R57W|FAM102A_ENST00000300434.3_Intron NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 199 Ser-rich. breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 ATAGTGGGCCGAGCCTTGGGG 0.652000 13 113 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195480082 195480082 + Silent SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr3:195480082C>G ENST00000463781.3 - 20 15807 c.15348G>C c.(15346-15348)ctG>ctC p.L5116L MUC4_ENST00000349607.4_Silent_p.L829L|MUC4_ENST00000475231.1_Silent_p.L5064L|MUC4_ENST00000346145.4_Silent_p.L880L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1873 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGTTCTGACACAGGAAAGAGC 0.627000 17 143 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115531770 115531770 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr10:115531770C>T ENST00000361048.1 + 8 921 c.594C>T c.(592-594)caC>caT p.H198H PLEKHS1_ENST00000369309.1_Silent_p.H12H|PLEKHS1_ENST00000369312.4_Silent_p.H110H|PLEKHS1_ENST00000369310.3_Silent_p.H192H NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 GGCAAACTCACCTACAAGATT 0.358000 8 52 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18883572 18883572 + Missense_Mutation SNP T T C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr16:18883572T>C ENST00000446231.2 - 15 2529 c.2117A>G c.(2116-2118)cAt>cGt p.H706R SMG1_ENST00000389467.3_Missense_Mutation_p.H706R Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 706 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 AATTGAGAAATGTTTCTTTGT 0.343000 4 22 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37198625 37198625 + Missense_Mutation SNP G G A rs147384010 byFrequency TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr20:37198625G>A ENST00000262879.6 + 27 4333 c.4049G>A c.(4048-4050)cGc>cAc p.R1350H RALGAPB_ENST00000397040.1_Missense_Mutation_p.R1350H|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R1129H|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R1347H Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1350 Rap-GAP. activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGGGTGGAACGCTATGATGAT 0.468000 11 18 0 0 1 0 0 SHANK3 85358 broad.mit.edu 37 22 51159754 51159754 + Missense_Mutation SNP A A T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr22:51159754A>T ENST00000414786.2 + 21 3678 c.3451A>T c.(3451-3453)Agc>Tgc p.S1151C SHANK3_ENST00000262795.3_Missense_Mutation_p.S1181C|SHANK3_ENST00000445220.2_Missense_Mutation_p.S1167C F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1181 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CTCCCCACGGAGCCCAGCCTG 0.672000 5 30 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151424261 151424261 + Silent SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chrX:151424261G>C ENST00000370314.4 - 5 778 c.540C>G c.(538-540)ctC>ctG p.L180L GABRA3_ENST00000535043.1_Silent_p.L180L NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 180 L -> P (in Ref. 3; AAH28629). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding p.L180L(1)|p.L70L(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCATTGTATAGAGGAGGGTTC 0.478000 13 72 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39266581 39266581 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr13:39266581G>A ENST00000280481.7 + 1 5316 c.5100G>A c.(5098-5100)gtG>gtA p.V1700V NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1700 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GATTTATCGTGACAGAGGCCC 0.438000 15 71 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38047451 38047451 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr4:38047451G>A ENST00000261439.4 + 10 1911 c.1556G>A c.(1555-1557)aGa>aAa p.R519K TBC1D1_ENST00000508802.1_Missense_Mutation_p.R519K NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 519 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 AATAAAGCCAGAGGCCTGCAG 0.433000 7 86 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43783873 43783873 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr15:43783873G>A ENST00000263801.3 - 4 602 c.350C>T c.(349-351)aCa>aTa p.T117I TP53BP1_ENST00000382044.4_Missense_Mutation_p.T122I|TP53BP1_ENST00000450115.2_Missense_Mutation_p.T122I|TP53BP1_ENST00000382039.3_Missense_Mutation_p.T122I NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 117 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) ATACCTGCTTGTCCTGTTTGG 0.378000 Other conserved DNA damage response genes 16 163 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16328458 16328458 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr6:16328458C>T ENST00000244769.4 - 8 1020 c.84G>A c.(82-84)gaG>gaA p.E28E ATXN1_ENST00000436367.1_Silent_p.E28E NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 28 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) TAGGGGCCTTCTCCTCGGAGG 0.687000 7 111 0 0 1 0 0 GTF3C2 2976 broad.mit.edu 37 2 27552094 27552094 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:27552094G>A ENST00000359541.2 - 14 2362 c.1933C>T c.(1933-1935)Cgt>Tgt p.R645C GTF3C2_ENST00000264720.3_Missense_Mutation_p.R645C Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 645 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCGTAAGGACGTCGAAGGTCC 0.488000 113 361 0 0 1 0 0 GSK3B 2932 broad.mit.edu 37 3 119720999 119720999 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr3:119720999G>A ENST00000264235.8 - 2 1158 c.176C>T c.(175-177)aCt>aTt p.T59I GSK3B_ENST00000316626.5_Missense_Mutation_p.T59I NM_001146156.1|NM_002093.3 NP_001139628.1|NP_002084.2 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta 59 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) AATCACTTTAGTGTCTGTATA 0.468000 36 200 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45872380 45872380 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr19:45872380G>A ENST00000391945.4 - 3 208 c.131C>T c.(130-132)tCa>tTa p.S44L ERCC2_ENST00000485403.2_Missense_Mutation_p.S20L|ERCC2_ENST00000221481.6_Missense_Mutation_p.S44L|ERCC2_ENST00000391940.4_Missense_Mutation_p.S20L|ERCC2_ENST00000391944.3_Missense_Mutation_p.S44L NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 44 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CCCGGTGCCTGAGGGCATCTC 0.587000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 36 86 0 0 1 0 0 CHPF 79586 broad.mit.edu 37 2 220404516 220404516 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:220404516G>C ENST00000243776.6 - 4 2165 c.1917C>G c.(1915-1917)ttC>ttG p.F639L CHPF_ENST00000535926.1_Missense_Mutation_p.F477L NM_024536.5 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 639 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GCATGGGAAAGAAGGCCTGCC 0.657000 68 87 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50005469 50005469 + Missense_Mutation SNP A A C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr3:50005469A>C ENST00000443081.1 + 3 1134 c.215A>C c.(214-216)gAt>gCt p.D72A RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.D204A|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000442092.1_Intron P78332 RBM6_HUMAN RNA binding motif protein 6 204 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TCAGATTTGGATTTTAGGGCC 0.448000 13 49 0 0 1 0 0 SLC37A3 84255 broad.mit.edu 37 7 140043314 140043314 + Silent SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr7:140043314C>G ENST00000326232.9 - 13 1427 c.1224G>C c.(1222-1224)gcG>gcC p.A408A SLC37A3_ENST00000340308.3_Intron|SLC37A3_ENST00000447932.2_Silent_p.A392A NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 408 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) GACCCAAGTCCGCAGAAATAG 0.458000 23 57 0 0 1 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166836798 166836798 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr6:166836798C>T ENST00000510118.1 - 19 2104 c.1764G>A c.(1762-1764)gcG>gcA p.A588A RPS6KA2_ENST00000265678.4_Silent_p.A563A|RPS6KA2_ENST00000481261.2_Silent_p.A474A|RPS6KA2_ENST00000503859.1_Silent_p.A571A|RPS6KA2_ENST00000405189.3_Silent_p.A474A|RPS6KA2_ENST00000509742.1_5'UTR Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 563 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) GCCCGTTCCCCGCGCGCAGCT 0.607000 8 55 0 0 1 0 0 RSBN1L 222194 broad.mit.edu 37 7 77326172 77326172 + Missense_Mutation SNP T T G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr7:77326172T>G ENST00000334955.8 + 1 413 c.386T>G c.(385-387)cTg>cGg p.L129R NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CGCAAACTGCTGGTCCCTCCT 0.667000 11 50 0 0 1 0 0 GNAI3 2773 broad.mit.edu 37 1 110134819 110134819 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr1:110134819C>T ENST00000369851.4 + 8 1139 c.1029C>T c.(1027-1029)atC>atT p.I343I NM_006496.3 NP_006487.1 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 343 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) CAGATGTCATCATTAAAAACA 0.368000 9 55 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28493883 28493883 + Splice_Site SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr15:28493883C>G ENST00000261609.7 - 21 3159 c.e21-1 NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGCAATGTTTCTATACAGGAA 0.363000 5 45 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29113437 29113437 + RNA SNP C C G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr16:29113437C>G ENST00000564580.1 + 0 1337 CCTTCTTCCCCTTTGATCCCT 0.493000 13 110 0 0 1 0 0 LEPREL4 10609 broad.mit.edu 37 17 39967426 39967426 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:39967426G>A ENST00000355468.3 - 3 1039 c.573C>T c.(571-573)gtC>gtT p.V191V LEPREL4_ENST00000393928.1_Silent_p.V191V Q92791 SC65_HUMAN leprecan-like 4 191 synaptonemal complex assembly nucleolus|synaptonemal complex binding p.V191V(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 ACTCGTCGGCGACGTCCAGCA 0.627000 37 349 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9020798 9020798 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr19:9020798G>A ENST00000397910.4 - 20 37507 c.37304C>T c.(37303-37305)cCt>cTt p.P12435L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12437 SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGTACAGAGGGCCAACACT 0.542000 30 144 0 0 1 0 0 UBA7 7318 broad.mit.edu 37 3 49849972 49849972 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr3:49849972G>A ENST00000333486.3 - 6 721 c.563C>T c.(562-564)tCc>tTc p.S188F UBA7_ENST00000494212.1_5'UTR NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 188 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AATGCCAGGGGAGCCCTGGGT 0.577000 12 88 0 0 1 0 0 SESN3 143686 broad.mit.edu 37 11 94917602 94917602 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:94917602G>A ENST00000536441.1 - 6 1255 c.919C>T c.(919-921)Cat>Tat p.H307Y SESN3_ENST00000278499.2_Missense_Mutation_p.H168Y|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.H307Y|SESN3_ENST00000416495.2_Missense_Mutation_p.H307Y|RP11-712B9.2_ENST00000534891.1_RNA NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 307 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) GGAAATGAATGAAAAGTATCT 0.388000 5 61 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43017748 43017748 + Missense_Mutation SNP C C A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr6:43017748C>A ENST00000535468.1 - 6 1860 c.1774G>T c.(1774-1776)Gac>Tac p.D592Y CUL7_ENST00000265348.3_Missense_Mutation_p.D508Y NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 508 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TCCTGATGGTCAGGTCCATCC 0.552000 12 147 0.00185496 0.00188627 1 1 0 PCDHB10 56126 broad.mit.edu 37 5 140574147 140574147 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr5:140574147G>A ENST00000239446.4 + 1 2206 c.2022G>A c.(2020-2022)ccG>ccA p.P674P NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 674 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCCTCTCCCGGAGGCGGCCC 0.687000 20 108 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418487 55418487 + Missense_Mutation SNP T T G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr11:55418487T>G ENST00000312422.2 + 1 108 c.108T>G c.(106-108)atT>atG p.I36M NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) ACATAATCATTCTTCTGGGAA 0.378000 253 626 0 0 1 0 0 KRT40 125115 broad.mit.edu 37 17 39137373 39137373 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:39137373C>T ENST00000377755.4 - 4 752 c.718G>A c.(718-720)Gac>Aac p.D240N KRT40_ENST00000398486.2_Missense_Mutation_p.D240N Q6A162 K1C40_HUMAN keratin 40 240 Linker 12.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) CTGAGGCGGTCGCCAAGCTGT 0.517000 25 124 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11716615 11716615 + Silent SNP A A G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr2:11716615A>G ENST00000381486.2 + 5 891 c.591A>G c.(589-591)gcA>gcG p.A197A GREB1_ENST00000389825.3_Silent_p.A87A|GREB1_ENST00000263834.5_Silent_p.A197A|GREB1_ENST00000381483.2_Silent_p.A197A|GREB1_ENST00000234142.5_Silent_p.A197A NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 197 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCCGTAATGCACAAGGGACTC 0.488000 25 120 0 0 1 0 0 SNW1 22938 broad.mit.edu 37 14 78205383 78205383 + Missense_Mutation SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr14:78205383C>T ENST00000261531.7 - 4 414 c.352G>A c.(352-354)Gac>Aac p.D118N SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.D118N|SNW1_ENST00000554775.1_Intron NM_012245.2 NP_036377.1 Q13573 SNW1_HUMAN SNW domain containing 1 118 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) GGAACCAGGTCAGTGTATTTG 0.388000 44 258 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40357464 40357464 + Silent SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr19:40357464G>A ENST00000221347.6 - 34 15856 c.15849C>T c.(15847-15849)atC>atT p.I5283I NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5283 VWFD 13. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGCCATGGCAGATCTGGACTT 0.557000 29 44 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176305281 176305281 + Silent SNP C C T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr5:176305281C>T ENST00000329542.4 + 12 2180 c.1906C>T c.(1906-1908)Ctg>Ttg p.L636L UNC5A_ENST00000261961.3_Silent_p.L596L NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 636 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGGGGACAGCTGATCCAGGA 0.637000 13 42 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gacfs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 7 355 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 4 4 --- --- --- --- EPS8 2059 broad.mit.edu 37 12 15794728 15794729 + Frame_Shift_Ins INS - - T TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr12:15794728_15794729insT ENST00000281172.5 - 16 2040_2041 c.1604_1605insA c.(1603-1605)tatfs p.Y535fs EPS8_ENST00000543523.1_Frame_Shift_Ins_p.Y535fs|EPS8_ENST00000543612.1_Frame_Shift_Ins_p.Y535fs|EPS8_ENST00000542903.1_Frame_Shift_Ins_p.Y275fs|EPS8_ENST00000540613.1_Frame_Shift_Ins_p.Y275fs NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 535 SH3. cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TGGATTTGGCATATTTCTTGGG 0.302 17 93 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76082490 76082491 + RNA INS - - T rs141632958 TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr12:76082490_76082491insT ENST00000552856.1 - 0 401 cattctTTTTCTTTTTTTTTTT 0.361 3 2 --- --- --- --- AC108004.3 0 broad.mit.edu 37 17 260080 260081 + RNA INS - - G TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr17:260080_260081insG ENST00000466740.2 - 0 330 CCGCGGTCCGTGGGGCACCGGG 0.688 3 6 --- --- --- --- PTH2 113091 broad.mit.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr19:49926531_49926533delCAG ENST00000270631.1 - 1 165_167 c.64_66delCTG c.(64-66)ctgdel p.L22del NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) AGGGCACCACcagcagcagcagc 0.690 7 36 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33334671 33334671 + Frame_Shift_Del DEL G G - TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr20:33334671delG ENST00000374796.2 - 11 5424 c.2854delC c.(2854-2856)caafs p.Q952fs NCOA6_ENST00000359003.2_Frame_Shift_Del_p.Q952fs Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 952 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TTAATTCCTTGTTCTCCAGGC 0.398 19 75 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33345607 33345607 + Frame_Shift_Del DEL G G - rs142275375 TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr20:33345607delG ENST00000374796.2 - 8 3514 c.944delC c.(943-945)cctfs p.P316fs NCOA6_ENST00000359003.2_Frame_Shift_Del_p.P316fs Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 316 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CCAGCCTGGAGGAACAGGCAC 0.582 24 76 --- --- --- --- EP300 2033 broad.mit.edu 37 22 41572402 41572403 + Frame_Shift_Ins INS - - C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017a5892-1703-4938-accc-0ba543b911e4 78743be5-7400-434b-b53b-450432c41ef3 g.chr22:41572402_41572403insC ENST00000263253.7 + 30 6150_6151 c.4931_4932insC c.(4930-4935)ctccgafs p.R1645fs RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1645 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TTCTCTTCACTCCGAAGAGCCC 0.564 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 26 57 --- --- --- ---