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 SSPO 23145 broad.mit.edu 37 7 149477052 149477052 + RNA SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:149477052C>T ENST00000378016.2 + 0 1229 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGCAGGTTTCCCCTGCTGAG 0.582000 7 24 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58602069 58602069 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:58602069G>T ENST00000287275.1 - 6 1108 c.718C>A c.(718-720)Caa>Aaa p.Q240K GLYATL2_ENST00000532258.1_Missense_Mutation_p.Q240K NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 240 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TAACCAATTTGCAACATGTTG 0.408000 43 137 2.13384e-23 2.96726e-23 1 1 0 EXOC5 10640 broad.mit.edu 37 14 57676686 57676686 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:57676686C>G ENST00000413566.2 - 16 2066 c.1707G>C c.(1705-1707)ttG>ttC p.L569F EXOC5_ENST00000340918.7_Missense_Mutation_p.L504F NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 569 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 TATATTGAATCAAAACATTGT 0.299000 5 19 0 0 1 0 0 THPO 7066 broad.mit.edu 37 3 184093302 184093302 + Splice_Site SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:184093302C>T ENST00000204615.7 - 4 443 c.e4+1 THPO_ENST00000445696.2_Splice_Site|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Splice_Site NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGCTTTCTTACCATCTGGGTT 0.473000 48 123 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39884102 39884102 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr22:39884102G>T ENST00000341184.6 + 2 965 c.750G>T c.(748-750)ccG>ccT p.P250P NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 250 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) AGCCGCGGCCGCTCAAGTTCC 0.637000 40 87 2.54651e-27 3.63913e-27 1 1 0 ZNF536 9745 broad.mit.edu 37 19 30936418 30936418 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:30936418C>G ENST00000355537.3 + 2 2096 c.1949C>G c.(1948-1950)tCc>tGc p.S650C NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 650 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GTCGTGCACTCCCGTGTCCAC 0.662000 64 162 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704948 52704948 + Missense_Mutation SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:52704948A>T ENST00000287727.3 + 4 2031 c.1859A>T c.(1858-1860)aAa>aTa p.K620I ZFYVE9_ENST00000371591.1_Missense_Mutation_p.K620I|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.K620I|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.K620I NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 620 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 ATTCTTGGGAAAGCAAAATTA 0.333000 56 131 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103427475 103427475 + Splice_Site SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:103427475C>T ENST00000358392.2 - 41 3468 c.3150_splice c.e41-1 p.G1051_splice COL11A1_ENST00000370096.3_Splice_Site_p.G1039_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G923_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1000_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1039 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCAGGTGCACCCTGGGAAAAG 0.388000 15 50 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158724743 158724743 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:158724743G>T ENST00000368144.2 + 1 234 c.138G>T c.(136-138)ccG>ccT p.P46P NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CTATGTTCCCGCATGCGCACA 0.448000 188 185 8.37379e-70 1.34046e-69 1 1 0 SLC9A3 6550 broad.mit.edu 37 5 491990 491990 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:491990G>C ENST00000264938.3 - 2 417 c.408C>G c.(406-408)ttC>ttG p.F136L SLC9A3_ENST00000514375.1_Missense_Mutation_p.F136L NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 136 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GGTTGCCGAAGAAGAGGCGGT 0.637000 10 31 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62845387 62845387 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:62845387G>T ENST00000512091.1 + 17 3455 c.2708G>T c.(2707-2709)cGg>cTg p.R903L LPHN3_ENST00000506746.1_Missense_Mutation_p.R971L|LPHN3_ENST00000509896.1_Missense_Mutation_p.R971L|LPHN3_ENST00000514996.1_Missense_Mutation_p.R903L|LPHN3_ENST00000508693.1_Missense_Mutation_p.R971L|LPHN3_ENST00000514157.1_Missense_Mutation_p.R903L|LPHN3_ENST00000514591.1_Missense_Mutation_p.R903L|LPHN3_ENST00000504896.1_Missense_Mutation_p.R903L|LPHN3_ENST00000507164.1_Missense_Mutation_p.R971L|LPHN3_ENST00000506720.1_Missense_Mutation_p.R971L|LPHN3_ENST00000511324.1_Missense_Mutation_p.R971L|LPHN3_ENST00000507625.1_Missense_Mutation_p.R971L|LPHN3_ENST00000506700.1_Missense_Mutation_p.R903L|LPHN3_ENST00000545650.1_Missense_Mutation_p.R903L|LPHN3_ENST00000508946.1_Missense_Mutation_p.R903L Q9HAR2 LPHN3_HUMAN latrophilin 3 890 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TGCTTTTTCCGGGGGCTCCAG 0.493000 114 289 5.67068e-62 9.00766e-62 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 9 89 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39226506 39226506 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:39226506C>A ENST00000340369.3 - 2 4659 c.4431G>T c.(4429-4431)caG>caT p.Q1477H XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.Q160H NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1477 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGGCTTGCACCTGGTTCAGGA 0.647000 57 130 1.27862e-28 1.86597e-28 1 1 0 EARS2 124454 broad.mit.edu 37 16 23555995 23555995 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:23555995C>A ENST00000449606.1 - 3 356 c.325G>T c.(325-327)Ggc>Tgc p.G109C EARS2_ENST00000563459.1_Missense_Mutation_p.G109C|EARS2_ENST00000563232.1_Missense_Mutation_p.G109C|EARS2_ENST00000564501.1_Missense_Mutation_p.G109C|EARS2_ENST00000564987.1_Intron NM_001083614.1 NP_001077083.1 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 109 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) GCAGGACCGCCCCGGCGGGGG 0.597000 10 28 0.000442599 0.000465124 1 1 0 KIF3B 9371 broad.mit.edu 37 20 30918002 30918002 + Missense_Mutation SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr20:30918002A>G ENST00000375712.3 + 8 2194 c.2027A>G c.(2026-2028)gAg>gGg p.E676G KIF3B_ENST00000418717.2_Missense_Mutation_p.E302G NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 676 Globular. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGAGACTATGAGGGTCCAGCC 0.537000 7 74 0 0 1 0 0 POU3F1 5453 broad.mit.edu 37 1 38511635 38511635 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:38511635G>T ENST00000373012.2 - 1 815 c.781C>A c.(781-783)Cag>Aag p.Q261K NM_002699.3 NP_002690.3 Q03052 PO3F1_HUMAN POU class 3 homeobox 1 261 POU-specific. positive regulation of transcription, DNA-dependent sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|lung(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGCTTGAACTGCTTGGCGAAC 0.692000 5 128 0.184627 0.185526 1 1 0 HELZ 9931 broad.mit.edu 37 17 65103323 65103323 + Nonsense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:65103323G>A ENST00000358691.5 - 31 5369 c.5203C>T c.(5203-5205)Cga>Tga p.R1735* HELZ_ENST00000580168.1_Nonsense_Mutation_p.R1736* NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GATACTGTTCGAGATGACAAT 0.393000 5 320 0 0 1 0 0 HES3 390992 broad.mit.edu 37 1 6304617 6304617 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:6304617C>T ENST00000377898.3 + 3 156 c.91C>T c.(91-93)Cgc>Tgc p.R31C NM_001024598.3 NP_001019769.1 Q5TGS1 HES3_HUMAN hes family bHLH transcription factor 3 31 Helix-loop-helix motif. transcription, DNA-dependent nucleus DNA binding lung(2)|skin(1) 3 Ovarian(185;0.0634) all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241) GATCCGGAAGCGCAAATTGGA 0.592000 13 52 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497208 1497208 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr8:1497208G>C ENST00000421627.2 + 2 483 c.349G>C c.(349-351)Gag>Cag p.E117Q NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 196 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GGACCAGTTCGAGAAGCAGCT 0.697000 5 26 0 0 1 0 0 DRAM1 55332 broad.mit.edu 37 12 102302116 102302116 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:102302116C>T ENST00000258534.8 + 4 934 c.495C>T c.(493-495)gcC>gcT p.A165A DRAM1_ENST00000544152.1_Intron NM_018370.2 NP_060840.2 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 165 apoptosis|autophagy integral to membrane|lysosomal membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 TCATCTCTGCCGTTTCTTGCG 0.453000 41 133 0 0 1 0 0 ISL1 3670 broad.mit.edu 37 5 50685751 50685751 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:50685751G>T ENST00000230658.7 + 4 1335 c.750G>T c.(748-750)caG>caT p.Q250H ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.Q250H NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 250 Gln-rich. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) AGCAGCAGCAGCCCAATGACA 0.597000 20 46 2.89027e-11 3.38153e-11 1 1 0 SELP 6403 broad.mit.edu 37 1 169565180 169565180 + Missense_Mutation SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:169565180A>T ENST00000263686.6 - 12 2121 c.2084T>A c.(2083-2085)gTa>gAa p.V695E SELP_ENST00000367786.2_Missense_Mutation_p.V633E|SELP_ENST00000367794.2_Missense_Mutation_p.V633E|SELP_ENST00000367793.2_Missense_Mutation_p.V633E|SELP_ENST00000367791.2_Missense_Mutation_p.V509E|SELP_ENST00000367792.2_Missense_Mutation_p.V511E|SELP_ENST00000458599.2_Missense_Mutation_p.V511E|SELP_ENST00000367788.2_Missense_Mutation_p.V633E NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 695 Sushi 8. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TGCTGGAGTTACTGCTGTCCA 0.478000 OREG0004610 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=SELP|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 986 689 0 0 1 0 0 OTOR 56914 broad.mit.edu 37 20 16729544 16729544 + Missense_Mutation SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr20:16729544T>A ENST00000246081.2 + 2 192 c.148T>A c.(148-150)Tat>Aat p.Y50N NM_020157.2 NP_064542.1 Q9NRC9 OTOR_HUMAN otoraplin 50 SH3. sensory perception of sound extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 TCAAGAAGATTATAATGCCCC 0.353000 22 55 0 0 1 0 0 TXK 7294 broad.mit.edu 37 4 48082040 48082040 + Silent SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:48082040A>G ENST00000264316.4 - 11 1147 c.1062T>C c.(1060-1062)taT>taC p.Y354Y TXK_ENST00000507351.1_Silent_p.Y9Y NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 354 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 TCTCCCTGAGATAGTTAAGCA 0.413000 58 201 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198267481 198267481 + Missense_Mutation SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:198267481T>A ENST00000335508.5 - 14 1967 c.1876A>T c.(1876-1878)Aac>Tac p.N626Y NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 626 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.N626Y(2)|p.N626D(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) GCTGTTGTGTTACGGACATAC 0.438000 Mis myelodysplastic syndrome 26 63 0 0 1 0 0 GPR6 2830 broad.mit.edu 37 6 110300772 110300772 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:110300772G>A ENST00000414000.2 + 3 741 c.502G>A c.(502-504)Gcc>Acc p.A168T GPR6_ENST00000275169.3_Missense_Mutation_p.A153T P46095 GPR6_HUMAN G protein-coupled receptor 6 153 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GGCCTCCTTCGCCGCCTCTGT 0.617000 8 290 0 0 1 0 0 LMAN2L 81562 broad.mit.edu 37 2 97405605 97405605 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:97405605G>A ENST00000264963.4 - 1 195 c.173C>T c.(172-174)tCg>tTg p.S58L LMAN2L_ENST00000377079.4_Missense_Mutation_p.S58L|LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_5'UTR NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 58 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 GTAGGGCTTCGACAGCGAGTG 0.627000 39 107 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42618506 42618506 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr18:42618506G>T ENST00000282030.5 + 5 4353 c.4057G>T c.(4057-4059)Ggc>Tgc p.G1353C NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1353 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TAAGAACGAAGGCTCAGTGCC 0.493000 Schinzel-Giedion syndrome 23 88 5.49717e-05 5.85137e-05 1 1 0 WDR49 151790 broad.mit.edu 37 3 167248972 167248972 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:167248972C>T ENST00000308378.3 - 9 1398 c.1093G>A c.(1093-1095)Gac>Aac p.D365N WDR49_ENST00000476376.1_Missense_Mutation_p.D190N|WDR49_ENST00000453925.2_Missense_Mutation_p.D429N|WDR49_ENST00000479765.1_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 365 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CCCTCAGTGTCAATCTCAAAG 0.413000 35 133 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30745018 30745018 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:30745018C>A ENST00000262518.4 + 29 6778 c.6393C>A c.(6391-6393)gaC>gaA p.D2131E SRCAP_ENST00000395059.2_Missense_Mutation_p.D2069E|SRCAP_ENST00000344771.4_Missense_Mutation_p.D1973E NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2131 Helicase C-terminal. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CAGGAGCAGACACTGTTGTTT 0.522000 49 135 6.34439e-16 8.16272e-16 1 1 0 OR52M1 119772 broad.mit.edu 37 11 4566849 4566849 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:4566849G>T ENST00000360213.1 + 1 429 c.429G>T c.(427-429)gtG>gtT p.V143V NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATACAGTGGTGGGTCGTTTGG 0.527000 45 103 1.00001e-27 1.43903e-27 1 1 0 ZC3H13 23091 broad.mit.edu 37 13 46559839 46559839 + Missense_Mutation SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr13:46559839T>A ENST00000242848.4 - 10 1661 c.1313A>T c.(1312-1314)cAg>cTg p.Q438L ZC3H13_ENST00000282007.3_Missense_Mutation_p.Q438L Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 438 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) GCTCTGATCCTGTTCATATTC 0.438000 53 166 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 5 105 0 0 1 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756818 49756818 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:49756818C>A ENST00000535833.1 - 10 3531 c.81G>T c.(79-81)ccG>ccT p.P27P RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.P27P Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 27 LRRNT. heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCGCACGGGGCGGGAAACCCT 0.647000 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 194 1 1 1 1 0 OR14J1 442191 broad.mit.edu 37 6 29274539 29274539 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:29274539C>A ENST00000377160.2 + 1 137 c.73C>A c.(73-75)Cat>Aat p.H25N NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TCAGATTTTACATGCATTGGT 0.448000 110 144 2.59407e-49 4.04284e-49 1 1 0 LELP1 149018 broad.mit.edu 37 1 153177402 153177402 + Silent SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:153177402C>G ENST00000368747.1 + 2 329 c.219C>G c.(217-219)ccC>ccG p.P73P NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 73 Cys/Pro-rich. NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTCCCCAGCCCTGCACCAAGC 0.617000 38 189 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183913403 183913403 + Nonsense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:183913403C>A ENST00000361927.4 - 10 1695 c.1324G>T c.(1324-1326)Gag>Tag p.E442* COLGALT2_ENST00000546159.1_Nonsense_Mutation_p.E442*|COLGALT2_ENST00000367520.3_Nonsense_Mutation_p.E179*|COLGALT2_ENST00000367521.1_Nonsense_Mutation_p.E50* NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 AACTGATGCTCAAAACGCACA 0.418000 30 221 7.38237e-10 8.39922e-10 1 1 0 POC1B-GALNT4 100528030 broad.mit.edu 37 12 89918896 89918896 + Splice_Site SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:89918896C>T ENST00000548729.1 - 2 403 c.e2+1 POC1B_ENST00000549504.1_Splice_Site|POC1B_ENST00000549035.1_Splice_Site|POC1B_ENST00000313546.3_Splice_Site|POC1B_ENST00000541909.1_Splice_Site|POC1B-GALNT4_ENST00000413530.1_Splice_Site|POC1B_ENST00000393179.4_Splice_Site|POC1B-GALNT4_ENST00000547474.1_Splice_Site NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 ATAAGACTTACCAAGTTGCTT 0.517000 OREG0022018 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 82 0 0 1 0 0 GPC3 2719 broad.mit.edu 37 X 133087120 133087120 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chrX:133087120C>T ENST00000370818.3 - 2 739 c.294G>A c.(292-294)atG>atA p.M98I GPC3_ENST00000394299.2_Missense_Mutation_p.M98I|GPC3_ENST00000543339.1_Intron NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 98 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) ACTTGAGCTCCATACTTGCAG 0.433000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 257 106 0 0 1 0 0 ECHS1 1892 broad.mit.edu 37 10 135180498 135180498 + Splice_Site SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr10:135180498C>A ENST00000368547.3 - 5 870 c.e5-1 NM_004092.3 NP_004083.3 P30084 ECHM_HUMAN enoyl CoA hydratase, short chain, 1, mitochondrial fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 10 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) CCGCCCGCACCTGCAGGGAGG 0.607000 11 38 0.00185496 0.00192972 1 1 0 GRIA2 2891 broad.mit.edu 37 4 158234012 158234012 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:158234012C>T ENST00000296526.7 + 4 976 c.651C>T c.(649-651)aaC>aaT p.N217N GRIA2_ENST00000507898.1_Silent_p.N170N|GRIA2_ENST00000393815.2_Silent_p.N170N|GRIA2_ENST00000449365.1_Silent_p.N170N|GRIA2_ENST00000264426.9_Silent_p.N217N NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 217 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.N217N(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ATAAAGTAAACGACATTGTAG 0.373000 9 201 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57113522 57113522 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:57113522C>A ENST00000262510.6 + 46 5527 c.5302C>A c.(5302-5304)Cct>Act p.P1768T NLRC5_ENST00000308149.7_Missense_Mutation_p.P1739T|NLRC5_ENST00000539144.1_Missense_Mutation_p.P1739T|NLRC5_ENST00000436936.1_3'UTR NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1768 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CACGAGCTGCCCTGCCCTGga 0.582000 58 156 1.22119e-34 1.86108e-34 1 1 0 HDLBP 3069 broad.mit.edu 37 2 242179464 242179464 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:242179464C>T ENST00000391975.1 - 18 2470 c.2243G>A c.(2242-2244)gGc>gAc p.G748D HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 748 KH 9. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GCGAATTTTGCCGCCCCCCTT 0.542000 5 234 0 0 1 0 0 LIG4 3981 broad.mit.edu 37 13 108861780 108861780 + Missense_Mutation SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr13:108861780T>C ENST00000356922.4 - 2 2109 c.1837A>G c.(1837-1839)Aaa>Gaa p.K613E LIG4_ENST00000442234.1_Missense_Mutation_p.K613E|LIG4_ENST00000405925.1_Missense_Mutation_p.K613E NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 613 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TAAAGGTGTTTAGATGCGAGC 0.423000 Non-homologous end-joining 49 121 0 0 1 0 0 PRDX1 5052 broad.mit.edu 37 1 45981409 45981409 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:45981409G>A ENST00000262746.1 - 3 516 c.177C>T c.(175-177)ttC>ttT p.F59F PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Silent_p.F59F|PRDX1_ENST00000483583.1_5'UTR NM_002574.3|NM_181696.2 NP_002565.1|NP_859047.1 Q06830 PRDX1_HUMAN peroxiredoxin 1 59 Thioredoxin. cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 12 Acute lymphoblastic leukemia(166;0.155) CCCTATCACTGAAAGCAATGA 0.433000 37 114 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3100356 3100356 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr18:3100356G>A ENST00000400569.3 - 24 3977 c.3644C>T c.(3643-3645)aCt>aTt p.T1215I MYOM1_ENST00000356443.4_Missense_Mutation_p.T1215I|MYOM1_ENST00000261606.7_Missense_Mutation_p.T1119I P52179 MYOM1_HUMAN myomesin 1 1215 Ig-like C2-type 3. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TATTCCATCAGTGTCTGTTAC 0.358000 8 51 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97053782 97053782 + Silent SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:97053782C>G ENST00000326771.2 + 5 719 c.339C>G c.(337-339)tcC>tcG p.S113S FHL5_ENST00000541107.1_Silent_p.S113S NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 113 LIM zinc-binding 2. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) GTACAGGTTCCCGCAAAATGG 0.348000 14 55 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103410623 103410623 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:103410623C>G ENST00000361246.2 - 30 4301 c.4013G>C c.(4012-4014)aGg>aCg p.R1338T NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1338 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GCCAGAGTTCCTCTTGAGTGT 0.532000 4 124 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133815980 133815980 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:133815980G>A ENST00000321016.8 - 2 468 c.238C>T c.(238-240)Ccg>Tcg p.P80S IGSF9B_ENST00000533871.2_Missense_Mutation_p.P80S Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 80 Ig-like 1. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TCCACGTGCGGCGGGTAGTAG 0.622000 10 16 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116767928 116767928 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:116767928C>A ENST00000375300.1 - 5 727 c.722G>T c.(721-723)gGg>gTg p.G241V SIK3_ENST00000292055.4_Missense_Mutation_p.G183V|SIK3_ENST00000434315.2_Missense_Mutation_p.G82V|SIK3_ENST00000446921.2_Missense_Mutation_p.G241V|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.G183V Q9Y2K2 SIK3_HUMAN SIK family kinase 3 183 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CACTTTGGGCCCATCATATTC 0.493000 34 86 1.56738e-10 1.80817e-10 1 1 0 TEP1 7011 broad.mit.edu 37 14 20864037 20864037 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:20864037C>A ENST00000262715.5 - 11 1771 c.1731G>T c.(1729-1731)gaG>gaT p.E577D TEP1_ENST00000556935.1_Missense_Mutation_p.E469D NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 577 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGAGTTGAGCCTCGAGGGCAT 0.468000 37 100 2.45108e-15 3.08627e-15 1 1 0 MMP9 4318 broad.mit.edu 37 20 44641106 44641106 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr20:44641106C>T ENST00000372330.3 + 8 1234 c.1215C>T c.(1213-1215)caC>caT p.H405H NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 405 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) AGTTCGGCCACGCGCTGGGCT 0.642000 41 157 0 0 1 0 0 NOP58 51602 broad.mit.edu 37 2 203149196 203149196 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:203149196G>T ENST00000264279.5 + 5 652 c.426G>T c.(424-426)ttG>ttT p.L142F NOP58_ENST00000467734.1_3'UTR NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 142 cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 GTCTTGGATTGGCTCACAGGT 0.373000 28 110 8.16721e-17 1.06071e-16 1 1 0 TINF2 26277 broad.mit.edu 37 14 24711492 24711492 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:24711492G>A ENST00000399423.4 - 1 377 c.47C>T c.(46-48)gCc>gTc p.A16V TINF2_ENST00000558566.1_Missense_Mutation_p.A16V|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.A16V|TINF2_ENST00000267415.7_Missense_Mutation_p.A16V|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000559019.1_Missense_Mutation_p.A16V NM_012461.2 NP_036593.2 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 16 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|telomeric DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0185) GCTAGCCGCGGCGGCGAAGCG 0.687000 Congenital Dyskeratosis;Ataxia Pancytopenia syndrome OREG0022621 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 98 0 0 1 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128495 68128495 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:68128495C>A ENST00000585558.1 + 4 760 c.372C>A c.(370-372)ggC>ggA p.G124G KCNJ16_ENST00000283936.1_Silent_p.G89G|KCNJ16_ENST00000392670.1_Silent_p.G89G|KCNJ16_ENST00000589377.1_Silent_p.G89G|KCNJ16_ENST00000392671.1_Silent_p.G89G|KCNJ16_ENST00000586462.1_Silent_p.G128G Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 89 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) TGATATTTGGCTCTGTCTTTT 0.418000 33 115 4.65686e-17 6.06714e-17 1 1 0 PHC1 1911 broad.mit.edu 37 12 9085944 9085944 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:9085944C>G ENST00000433083.2 + 7 1901 c.1756C>G c.(1756-1758)Ccg>Gcg p.P586A PHC1_ENST00000544916.1_Missense_Mutation_p.P631A|PHC1_ENST00000543824.1_Missense_Mutation_p.P631A|PHC1_ENST00000536844.1_Intron|PHC1_ENST00000433847.2_3'UTR P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 631 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 TGTGCACTTGCCGGTGAGTGA 0.502000 7 20 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35403186 35403186 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr9:35403186G>T ENST00000378495.3 + 37 4482 c.4260G>T c.(4258-4260)gtG>gtT p.V1420V UNC13B_ENST00000396787.1_Silent_p.V1451V|UNC13B_ENST00000378496.4_Silent_p.V1439V NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1420 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) ACGATCCTGTGGGAGAAGTCT 0.527000 31 89 4.65686e-17 6.06714e-17 1 1 0 GAS2L1 10634 broad.mit.edu 37 22 29706677 29706677 + Missense_Mutation SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr22:29706677T>C ENST00000471961.1 + 3 1839 c.791T>C c.(790-792)cTg>cCg p.L264P GAS2L1_ENST00000407647.2_Missense_Mutation_p.L264P|GAS2L1_ENST00000341313.6_Missense_Mutation_p.L264P|GAS2L1_ENST00000403764.1_Missense_Mutation_p.L264P|GAS2L1_ENST00000407854.1_Missense_Mutation_p.L264P|GAS2L1_ENST00000406549.3_Missense_Mutation_p.L264P|GAS2L1_ENST00000360113.2_Missense_Mutation_p.L264P Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 264 GAR. cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 TGGGACACGCTGGAGCATTAC 0.697000 15 29 0 0 1 0 0 MMP15 4324 broad.mit.edu 37 16 58072288 58072288 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:58072288C>G ENST00000219271.3 + 3 1215 c.430C>G c.(430-432)Ctg>Gtg p.L144V NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 144 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 CAACCACCATCTGACCTTTAG 0.662000 6 231 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121838357 121838357 + Nonsense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:121838357C>A ENST00000330540.2 + 7 1082 c.966C>A c.(964-966)tgC>tgA p.C322* CD86_ENST00000264468.5_Nonsense_Mutation_p.C109*|CD86_ENST00000493101.1_Nonsense_Mutation_p.C210*|CD86_ENST00000469710.1_Nonsense_Mutation_p.C240*|CD86_ENST00000393627.2_Nonsense_Mutation_p.C316* NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 322 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CATCTTCATGCGACAAAAGTG 0.343000 20 71 0.00188189 0.00195282 1 1 0 CSF1R 1436 broad.mit.edu 37 5 149459664 149459664 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:149459664C>A ENST00000286301.3 - 4 834 c.543G>T c.(541-543)atG>atT p.M181I CSF1R_ENST00000543093.1_Missense_Mutation_p.M181I NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 181 Ig-like C2-type 2. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TCCTGCCACCCATCAGGGCAC 0.587000 40 107 6.5261e-18 8.5837e-18 1 1 0 OPN4 94233 broad.mit.edu 37 10 88416037 88416037 + Silent SNP G G A rs150600156 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr10:88416037G>A ENST00000372071.2 + 2 497 c.270G>A c.(268-270)acG>acA p.T90T OPN4_ENST00000241891.5_Silent_p.T90T NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 90 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 GCAACCTGACGGTCATCTATA 0.602000 60 175 0 0 1 0 0 KIAA0355 9710 broad.mit.edu 37 19 34821245 34821245 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:34821245C>T ENST00000299505.6 + 7 2129 c.1256C>T c.(1255-1257)gCt>gTt p.A419V NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 419 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) TTTGGCCAGGCTGGACTGGTG 0.517000 9 78 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 887203 887203 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:887203C>A ENST00000314167.4 - 9 1062 c.952G>T c.(952-954)Gcc>Tcc p.A318S GAK_ENST00000511163.1_Missense_Mutation_p.A239S NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 318 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) TTGCGGGCGGCCGCGATCTCC 0.667000 27 65 6.00712e-18 7.92633e-18 1 1 0 LENG8 114823 broad.mit.edu 37 19 54967576 54967576 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:54967576C>T ENST00000326764.5 + 10 1856 c.1377C>T c.(1375-1377)ccC>ccT p.P459P LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 422 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GGAACCCGCCCCCTAAGGGCC 0.672000 30 82 0 0 1 0 0 MUTYH 4595 broad.mit.edu 37 1 45798605 45798605 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:45798605G>T ENST00000450313.1 - 6 704 c.489C>A c.(487-489)gcC>gcA p.A163A MUTYH_ENST00000372098.3_Silent_p.A160A|MUTYH_ENST00000448481.1_Silent_p.A146A|MUTYH_ENST00000372115.3_Silent_p.A149A|MUTYH_ENST00000354383.6_Silent_p.A136A|MUTYH_ENST00000355498.2_Silent_p.A135A|MUTYH_ENST00000372110.3_Silent_p.A150A|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000372100.5_Silent_p.A146A|MUTYH_ENST00000456914.2_Silent_p.A135A|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372104.1_Silent_p.A135A|MUTYH_ENST00000488731.2_Intron NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 160 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GGGAAGCACTGGCCAGGTCCT 0.552000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 24 103 3.6726e-16 4.75481e-16 1 1 0 ZNF208 7757 broad.mit.edu 37 19 22155616 22155616 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:22155616C>A ENST00000397126.4 - 4 2368 c.2220G>T c.(2218-2220)aaG>aaT p.K740N ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TATGAATTACCTTATGTTTAG 0.363000 27 84 1.45844e-13 1.77157e-13 1 1 0 KMT2B 9757 broad.mit.edu 37 19 36229345 36229345 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:36229345C>T ENST00000222270.7 + 37 8035 c.8035C>T c.(8035-8037)Cgc>Tgc p.R2679C KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.R2679C NM_014727.1 NP_055542.1 p.R2681C(1) CGCCCTGCGCCGCATCCTGCG 0.602000 20 64 0 0 1 0 0 IGLV4-69 28784 broad.mit.edu 37 22 22385611 22385611 + RNA SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr22:22385611C>A ENST00000390282.2 + 0 160 PRAMEF24P_ENST00000337471.4_RNA CTCTGCCTCCCTGGGAGCCTC 0.592000 33 79 3.76114e-14 4.63686e-14 1 1 0 USP53 54532 broad.mit.edu 37 4 120188600 120188600 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:120188600C>T ENST00000450251.1 + 9 1642 c.1098C>T c.(1096-1098)atC>atT p.I366I USP53_ENST00000274030.6_Silent_p.I366I Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 366 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 GGCAGGTCATCAGCTGGTCAC 0.383000 21 88 0 0 1 0 0 IGHV2-26 28455 broad.mit.edu 37 14 106757742 106757742 + RNA SNP T T G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:106757742T>G ENST00000390611.2 - 0 288 TTGGAGATGGTGAGCCTGCTC 0.532000 75 190 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997288 115997288 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:115997288C>A ENST00000264363.2 - 2 1583 c.905G>T c.(904-906)aGg>aTg p.R302M NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 302 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AAGGATGTACCTGTCCAAGGA 0.408000 54 148 4.17463e-26 5.90453e-26 1 1 0 PRDX6 9588 broad.mit.edu 37 1 173456971 173456971 + Missense_Mutation SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:173456971A>G ENST00000340385.5 + 5 776 c.644A>G c.(643-645)aAg>aGg p.K215R PRDX6_ENST00000470017.1_3'UTR NM_004905.2 NP_004896.1 P30041 PRDX6_HUMAN peroxiredoxin 6 215 cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 CCATCTGGCAAGAAATACCTC 0.493000 68 164 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124761447 124761447 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:124761447C>T ENST00000306534.3 - 12 2181 c.1696G>A c.(1696-1698)Gac>Aac p.D566N RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.D421N NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 566 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CTTCGGGAGTCCCAGGAGAGC 0.597000 8 203 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56635170 56635170 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:56635170C>T ENST00000389934.3 - 32 4546 c.4429G>A c.(4429-4431)Gaa>Aaa p.E1477K TEX14_ENST00000584699.1_Intron|TEX14_ENST00000349033.5_Missense_Mutation_p.E1437K|TEX14_ENST00000240361.8_Missense_Mutation_p.E1483K NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1483 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGGATGATTCGGACCAACCT 0.338000 58 129 0 0 1 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43204882 43204882 + Missense_Mutation SNP C C T rs140377812 byFrequency TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr22:43204882C>T ENST00000263245.5 - 13 1430 c.1211G>A c.(1210-1212)cGc>cAc p.R404H ARFGAP3_ENST00000437119.2_Missense_Mutation_p.R360H|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.R332H NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 404 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 ATCTGGCTTGCGGCGAGCAGT 0.373000 4 160 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53643586 53643586 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:53643586G>A ENST00000452676.2 - 5 2924 c.2498C>T c.(2497-2499)cCt>cTt p.P833L ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.P833L|ZNF347_ENST00000334197.7_Missense_Mutation_p.P832L NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 832 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TGGCTTGCAAGGTTTGAACTC 0.383000 51 182 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161134100 161134100 + Missense_Mutation SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:161134100T>A ENST00000308192.9 + 5 553 c.490T>A c.(490-492)Tgc>Agc p.C164S PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 164 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGGGCCCTGGTGCTATACTAC 0.493000 98 197 0 0 1 0 0 KIAA1524 57650 broad.mit.edu 37 3 108288251 108288251 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:108288251G>C ENST00000295746.8 - 9 1174 c.1098C>G c.(1096-1098)ttC>ttG p.F366L KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.F207L NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 366 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATATTTCCTTGAACAACTCCA 0.368000 12 46 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92446354 92446354 + Missense_Mutation SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:92446354A>T ENST00000370389.2 + 9 2147 c.1223A>T c.(1222-1224)aAg>aTg p.K408M BRDT_ENST00000402388.1_Missense_Mutation_p.K481M|BRDT_ENST00000399546.2_Missense_Mutation_p.K481M|BRDT_ENST00000394530.3_Missense_Mutation_p.K435M|BRDT_ENST00000362005.3_Missense_Mutation_p.K481M NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) ATGAGGCTAAAGGAAAAGTCC 0.284000 23 58 0 0 1 0 0 ST3GAL2 6483 broad.mit.edu 37 16 70432338 70432338 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:70432338G>A ENST00000393640.4 - 1 2203 c.96C>T c.(94-96)gcC>gcT p.A32A ST3GAL2_ENST00000342907.2_Silent_p.A32A|RP11-529K1.4_ENST00000566960.1_RNA Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 2 32 amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 11 Ovarian(137;0.0694) AGGGGAGCGTGGCCATGCTGT 0.647000 6 87 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21975483 21975483 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:21975483G>A ENST00000382254.1 - 6 1329 c.243C>T c.(241-243)gaC>gaT p.D81D CDH12_ENST00000504376.2_Silent_p.D81D|CDH12_ENST00000522262.1_Silent_p.D81D NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 81 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CCTTGTCTAAGTCGGAATGGA 0.443000 HNSCC(59;0.17) 42 147 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120810056 120810056 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr8:120810056G>C ENST00000378164.2 - 7 1121 c.823C>G c.(823-825)Cca>Gca p.P275A NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 275 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTCAGCAATGGAAGAAGTTGG 0.323000 4 109 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 102029276 102029276 + Silent SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr13:102029276A>G ENST00000251127.6 - 5 588 c.507T>C c.(505-507)aaT>aaC p.N169N NALCN_ENST00000376200.5_Silent_p.N169N|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.N169N NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 169 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACTTTAAAATATTTGTAATTC 0.383000 29 87 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51742804 51742804 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:51742804C>A ENST00000262262.4 + 7 977 c.956C>A c.(955-957)cCc>cAc p.P319H CD33_ENST00000421133.2_Missense_Mutation_p.P192H|CD33_ENST00000600557.1_3'UTR NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 319 cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TTACATGGCCCCACTGAAACC 0.527000 24 57 1.85244e-09 2.09032e-09 1 1 0 ZNF221 7638 broad.mit.edu 37 19 44470960 44470960 + Nonsense_Mutation SNP C C T rs148293806 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:44470960C>T ENST00000251269.5 + 6 1634 c.1306C>T c.(1306-1308)Cga>Tga p.R436* ZNF221_ENST00000592350.1_Nonsense_Mutation_p.R436*|ZNF221_ENST00000587682.1_Nonsense_Mutation_p.R436* NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) TACAAATTCACGACGATCTTC 0.418000 45 100 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197890472 197890472 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:197890472G>A ENST00000367390.3 + 4 416 c.389G>A c.(388-390)gGc>gAc p.G130D LHX9_ENST00000561173.1_Missense_Mutation_p.G145D|LHX9_ENST00000367391.1_Missense_Mutation_p.G130D|LHX9_ENST00000337020.2_Missense_Mutation_p.G139D|LHX9_ENST00000367387.4_Missense_Mutation_p.G139D NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 139 LIM zinc-binding 1. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 TGCCACCTTGGCATTTCCGCC 0.587000 54 160 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 8 23 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47424934 47424934 + Nonsense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:47424934C>G ENST00000404338.3 + 1 3002 c.3002C>G c.(3001-3003)tCa>tGa p.S1001* NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1001 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity GAAGACACATCACTGCCTTCT 0.463000 8 110 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458791 248458791 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:248458791C>A ENST00000317996.1 - 1 89 c.90G>T c.(88-90)ctG>ctT p.L30L NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AAACGGTGGCCAGAAGCATCA 0.502000 262 159 8.19007e-104 1.32129e-103 1 1 0 LCE1E 353135 broad.mit.edu 37 1 152760109 152760109 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:152760109C>A ENST00000368770.3 + 2 387 c.334C>A c.(334-336)Cag>Aag p.Q112K LCE1E_ENST00000368771.1_Missense_Mutation_p.Q112K NM_178353.1 NP_848130.1 Q5T753 LCE1E_HUMAN late cornified envelope 1E 112 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGGCAGCGGCCAGCACTCTGG 0.607000 10 308 0.000422831 0.000446622 1 1 0 COL26A1 136227 broad.mit.edu 37 7 101188641 101188641 + RNA SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:101188641C>A ENST00000313669.7 + 0 918 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 CTCCAGGGCCCCGTGGGCTTC 0.682000 12 37 0.000219431 0.000232372 1 1 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 5 168 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765365 18765365 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:18765365G>T ENST00000304081.4 - 5 980 c.880C>A c.(880-882)Cgc>Agc p.R294S NT5C1B_ENST00000600945.1_Missense_Mutation_p.R354S|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R354S|NT5C1B_ENST00000359846.2_Missense_Mutation_p.R354S NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TTGACGAAGCGGAACGCCGGG 0.582000 49 185 1.67211e-32 2.49307e-32 1 1 0 SLC9B1 150159 broad.mit.edu 37 4 103832677 103832677 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:103832677C>T ENST00000296422.7 - 8 988 c.847G>A c.(847-849)Gcc>Acc p.A283T SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Missense_Mutation_p.A283T NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 283 integral to membrane solute:hydrogen antiporter activity GAGGCTATGGCGTTATTAAGT 0.358000 14 73 0 0 1 0 0 OR10T2 128360 broad.mit.edu 37 1 158369010 158369010 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:158369010G>A ENST00000334438.1 - 1 246 c.247C>T c.(247-249)Ctg>Ttg p.L83L NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) AGGTGGACCAGCAGCTGAGGG 0.498000 20 98 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 206 0 0 1 0 0 FAM86FP 653113 broad.mit.edu 37 12 8386955 8386955 + RNA SNP T T C rs75997195 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:8386955T>C ENST00000427893.2 - 0 811 CTTGTGCTCCTGGCAGGCAGC 0.612000 8 314 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197297633 197297633 + Missense_Mutation SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:197297633A>G ENST00000367400.3 + 2 287 c.152A>G c.(151-153)gAc>gGc p.D51G CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.D51G|CRB1_ENST00000538660.1_Missense_Mutation_p.D51G NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 51 EGF-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTTTCAAAAGACAATGATTGT 0.373000 27 138 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94791272 94791272 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:94791272G>C ENST00000289495.5 + 4 1959 c.1743G>C c.(1741-1743)aaG>aaC p.K581N PPP1R9A_ENST00000433360.1_Missense_Mutation_p.K581N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.K581N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.K581N|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.K581N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.K581N NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 581 PDZ. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GAAACACCAAGGGCAACGTCA 0.363000 HNSCC(28;0.073) 13 30 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73789208 73789208 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:73789208C>T ENST00000334126.7 - 23 4781 c.4555G>A c.(4555-4557)Gac>Aac p.D1519N C2CD3_ENST00000313663.7_Missense_Mutation_p.D1519N Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1519 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) CTGGCCAGGTCCACATAGGCT 0.547000 22 176 0 0 1 0 0 LCE1D 353134 broad.mit.edu 37 1 152770592 152770592 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:152770592C>A ENST00000326233.6 + 2 365 c.322C>A c.(322-324)Cag>Aag p.Q108K NM_178352.2 NP_848129.1 Q5T752 LCE1D_HUMAN late cornified envelope 1D 108 Cys-rich. cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm large_intestine(1) 1 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGGCAGCAGCCAGCACTCTGG 0.622000 53 322 6.09941e-20 8.20539e-20 1 1 0 OR4N2 390429 broad.mit.edu 37 14 20296002 20296002 + Missense_Mutation SNP A A C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:20296002A>C ENST00000315947.1 + 1 395 c.395A>C c.(394-396)tAt>tCt p.Y132S OR4N2_ENST00000568211.1_Missense_Mutation_p.Y132S NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCTCTGCACTATCCTACTGTC 0.527000 7 250 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48390154 48390154 + Missense_Mutation SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr10:48390154T>C ENST00000224600.4 - 1 837 c.724A>G c.(724-726)Atc>Gtc p.I242V NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 242 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) ATGTGCGCGATGTCCTCGGCC 0.652000 24 79 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871043 170871043 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:170871043G>A ENST00000392092.2 + 3 498 c.219G>A c.(217-219)caG>caA p.Q73Q TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 73 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q73Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcaacagcaacagcagc 0.562000 4 64 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130300581 130300581 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:130300581C>A ENST00000358511.6 + 8 3755 c.3724C>A c.(3724-3726)Caa>Aaa p.Q1242K COL6A6_ENST00000453409.2_Missense_Mutation_p.Q1242K NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1242 Nonhelical region.|VWFA 7. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGTGGCTTTTCAAGTGACCAA 0.433000 40 96 8.16277e-20 1.08749e-19 1 1 0 OR2T12 127064 broad.mit.edu 37 1 248458726 248458726 + Missense_Mutation SNP C C A rs145453698 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:248458726C>A ENST00000317996.1 - 1 154 c.155G>T c.(154-156)cGg>cTg p.R52L NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CCTGTGGAGCCGGTGGTCCCA 0.542000 105 148 6.59513e-52 1.03961e-51 1 1 0 IL4R 3566 broad.mit.edu 37 16 27367205 27367205 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:27367205G>T ENST00000395762.2 + 8 1006 c.747G>T c.(745-747)ctG>ctT p.L249L IL4R_ENST00000380922.3_Silent_p.L234L|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Silent_p.L249L|IL4R_ENST00000543915.2_Silent_p.L249L NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 249 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CCGTCTGCCTGTTGTGCTATG 0.627000 51 145 5.12918e-33 7.70309e-33 1 1 0 VWF 7450 broad.mit.edu 37 12 6128067 6128067 + Nonsense_Mutation SNP G G T rs61750100 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:6128067G>T ENST00000261405.5 - 28 4771 c.4517C>A c.(4516-4518)tCg>tAg p.S1506* NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1506 VWFA 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AATTTTGTCCGATCCTTCCAG 0.582000 16 47 1.01871e-10 1.17851e-10 1 1 0 LRFN1 57622 broad.mit.edu 37 19 39799011 39799011 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:39799011C>A ENST00000248668.4 - 2 1577 c.1578G>T c.(1576-1578)ccG>ccT p.P526P NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 526 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGGCCCTCAGCGGGCGGCAGG 0.657000 13 34 1.49906e-05 1.60392e-05 1 1 0 ZNF235 9310 broad.mit.edu 37 19 44793056 44793056 + Nonsense_Mutation SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:44793056T>A ENST00000291182.4 - 5 634 c.532A>T c.(532-534)Aaa>Taa p.K178* ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) TTCGGAACTTTCCCAGTTGGA 0.358000 43 85 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10602581 10602581 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:10602581C>T ENST00000171111.5 - 3 1544 c.997G>A c.(997-999)Ggc>Agc p.G333S KEAP1_ENST00000393623.2_Missense_Mutation_p.G333S NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 333 G -> C (in a NSCLC cell line; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression). regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.G333S(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGGAAGTAGCCGCCCGCGGTG 0.677000 14 25 0 0 1 0 0 MYEOV 26579 broad.mit.edu 37 11 69062831 69062831 + Missense_Mutation SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:69062831A>G ENST00000308946.3 + 2 460 c.10A>G c.(10-12)Aga>Gga p.R4G MYEOV_ENST00000441339.2_Missense_Mutation_p.R4G|MYEOV_ENST00000535407.1_Intron NM_138768.2 NP_620123.2 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 4 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) catggccctcagaatctgcgt 0.577000 7 22 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105656384 105656384 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:105656384G>T ENST00000542731.1 + 11 1447 c.1339G>T c.(1339-1341)Gtt>Ttt p.V447F CDHR3_ENST00000478080.1_Missense_Mutation_p.V359F|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.V447F|CDHR3_ENST00000343407.5_Missense_Mutation_p.V166F Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 447 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 TAACGTCTACGTTTATATCCT 0.343000 7 27 0.0293803 0.0296677 1 1 0 CHKA 1119 broad.mit.edu 37 11 67833337 67833337 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:67833337G>C ENST00000265689.4 - 9 1067 c.1041C>G c.(1039-1041)ttC>ttG p.F347L CHKA_ENST00000356135.5_Missense_Mutation_p.F329L NM_001277.2 NP_001268.2 P35790 CHKA_HUMAN choline kinase alpha 347 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) TCCACTCACAGAAGTGATTTC 0.423000 5 108 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 4494967 4494967 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr8:4494967G>T ENST00000520002.1 - 2 754 c.199C>A c.(199-201)Cgc>Agc p.R67S CSMD1_ENST00000542608.1_Missense_Mutation_p.R67S|CSMD1_ENST00000537824.1_Missense_Mutation_p.R67S|CSMD1_ENST00000602723.1_Missense_Mutation_p.R67S|CSMD1_ENST00000539096.1_Missense_Mutation_p.R67S|CSMD1_ENST00000602557.1_Missense_Mutation_p.R67S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R67S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 67 CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATCCTATTGCGCTCGCCCGTG 0.463000 46 123 2.01872e-29 2.96701e-29 1 1 0 RFX3 5991 broad.mit.edu 37 9 3266222 3266222 + Missense_Mutation SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr9:3266222T>C ENST00000382004.3 - 13 1752 c.1441A>G c.(1441-1443)Atg>Gtg p.M481V RFX3_ENST00000302303.1_Missense_Mutation_p.M481V|RFX3_ENST00000358730.2_Missense_Mutation_p.M481V NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 481 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) GTTTGTATCATTCTCTGTGGA 0.343000 25 56 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120188592 120188592 + Nonsense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:120188592C>T ENST00000450251.1 + 9 1634 c.1090C>T c.(1090-1092)Cag>Tag p.Q364* USP53_ENST00000274030.6_Nonsense_Mutation_p.Q364* Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 364 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 TGCACTCAGGCAGGTCATCAG 0.388000 22 86 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3447890 3447890 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:3447890C>T ENST00000382774.3 + 10 1339 c.1224C>T c.(1222-1224)atC>atT p.I408I HGFAC_ENST00000511533.1_Silent_p.I415I NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 408 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGCCACGTATCATCGGCGGCT 0.706000 12 38 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059203 248059203 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:248059203G>T ENST00000537741.1 + 3 572 c.315G>T c.(313-315)ctG>ctT p.L105L OR2W3_ENST00000360358.3_Silent_p.L105L Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCCTGTTCCTGGGTCTGGGTG 0.557000 68 215 4.08933e-50 6.39732e-50 1 1 0 CSMD1 64478 broad.mit.edu 37 8 3245041 3245041 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr8:3245041C>A ENST00000520002.1 - 19 3315 c.2760G>T c.(2758-2760)tgG>tgT p.W920C CSMD1_ENST00000542608.1_Missense_Mutation_p.W919C|CSMD1_ENST00000537824.1_Missense_Mutation_p.W919C|CSMD1_ENST00000602723.1_Missense_Mutation_p.W920C|CSMD1_ENST00000539096.1_Missense_Mutation_p.W919C|CSMD1_ENST00000602557.1_Missense_Mutation_p.W920C|CSMD1_ENST00000400186.3_Missense_Mutation_p.W920C Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 920 Sushi 5. integral to membrane p.W648*(1)|p.W919*(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGGCGTGGTTCCACTGGTGGT 0.587000 4 15 0.00909568 0.00927535 1 1 0 RHOJ 57381 broad.mit.edu 37 14 63757713 63757713 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:63757713G>C ENST00000316754.3 + 5 1078 c.616G>C c.(616-618)Gag>Cag p.E206Q NM_020663.4 NP_065714.1 Q9H4E5 RHOJ_HUMAN ras homolog family member J 206 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) ACGCTGTTCTGAGGGTCACAG 0.498000 11 160 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291100 141291100 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chrX:141291100G>T ENST00000247452.3 - 3 1021 c.674C>A c.(673-675)cCc>cAc p.P225H NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 225 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GCTGTTCTCGGGCATGCCCTC 0.507000 HNSCC(46;0.14) 89 192 2.5963e-48 4.00102e-48 1 1 0 C11orf35 256329 broad.mit.edu 37 11 557472 557472 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:557472C>T ENST00000329451.3 - 7 702 c.640G>A c.(640-642)Gac>Aac p.D214N NM_173573.2 NP_775844.2 Q8IXW0 CK035_HUMAN chromosome 11 open reading frame 35 214 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAATCCACGTCCTCCAGCCGA 0.607000 24 15 0 0 1 0 0 NOVA2 4858 broad.mit.edu 37 19 46443885 46443885 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:46443885G>T ENST00000263257.5 - 4 909 c.715C>A c.(715-717)Cca>Aca p.P239T NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 239 Ala-rich. nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) GCCGCGGCTGGCAGCACATCC 0.761000 9 16 0.00448238 0.00459361 1 1 0 OR5B12 390191 broad.mit.edu 37 11 58207305 58207305 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:58207305G>C ENST00000302572.2 - 1 341 c.320C>G c.(319-321)aCt>aGt p.T107S NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) ACTTTCTGCAGTGATAAAGGC 0.443000 45 108 0 0 1 0 0 RGS16 6004 broad.mit.edu 37 1 182569642 182569642 + Missense_Mutation SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:182569642T>C ENST00000367558.5 - 5 542 c.394A>G c.(394-396)Att>Gtt p.I132V NM_002928.3 NP_002919.3 O15492 RGS16_HUMAN regulator of G-protein signaling 16 132 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1) 11 TCATGGTCAATGTTGACCTGC 0.587000 41 167 0 0 1 0 0 OR7A17 26333 broad.mit.edu 37 19 14992036 14992036 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:14992036G>T ENST00000327462.2 - 1 228 c.132C>A c.(130-132)ctC>ctA p.L44L NM_030901.1 NP_112163.1 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, member 17 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) CCAGGATGATGAGCAGATTCC 0.498000 35 31 9.45814e-24 1.32414e-23 1 1 0 WDR64 128025 broad.mit.edu 37 1 241886730 241886730 + Missense_Mutation SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:241886730T>A ENST00000366552.2 + 9 1363 c.1156T>A c.(1156-1158)Tct>Act p.S386T WDR64_ENST00000437684.2_Missense_Mutation_p.S386T NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 386 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CAGCCTTTCCTCTGCAAAGGT 0.373000 87 51 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 4 243 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43428862 43428862 + RNA SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:43428862G>C ENST00000406070.2 - 0 1454 NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) aatttacattgagttgtccaa 0.423000 14 57 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104642350 104642350 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:104642350C>T ENST00000315264.7 + 11 3186 c.2808C>T c.(2806-2808)atC>atT p.I936I KIF26A_ENST00000423312.2_Silent_p.I1075I Q9ULI4 KI26A_HUMAN kinesin family member 26A 1075 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CAGTCAGCATCATCAGCAGCA 0.697000 4 14 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1097832 1097832 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:1097832C>A ENST00000441003.2 + 36 6952 c.6925C>A c.(6925-6927)Ccg>Acg p.P2309T MUC2_ENST00000361558.6_3'UTR NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4671 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GACCAAGCGCCCGGCCGTCAC 0.667000 21 53 1.85244e-09 2.09032e-09 1 1 0 ALOXE3 59344 broad.mit.edu 37 17 8020298 8020298 + Splice_Site SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:8020298C>G ENST00000380149.1 - 2 646 c.615_splice c.e2-1 p.V206_splice ALOXE3_ENST00000448843.2_Splice_Site_p.V50_splice|ALOXE3_ENST00000318227.3_Splice_Site_p.V182_splice Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 50 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 TACTTCTGTACCTGAGGGGAC 0.567000 8 34 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74229620 74229620 + Missense_Mutation SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:74229620T>C ENST00000316292.9 - 1 1121 c.130A>G c.(130-132)Aag>Gag p.K44E EEF1A1_ENST00000331523.2_Missense_Mutation_p.K44E|EEF1A1_ENST00000309268.6_Missense_Mutation_p.K44E NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 44 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GCAGCCTCCTTCTCAAATTTT 0.423000 13 138 0 0 1 0 0 ENG 2022 broad.mit.edu 37 9 130580453 130580453 + Silent SNP G G T rs117510900 by1000genomes TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr9:130580453G>T ENST00000344849.3 - 12 1912 c.1632C>A c.(1630-1632)acC>acA p.T544T ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000373203.4_Silent_p.T544T P17813 EGLN_HUMAN endoglin 544 Ser/Thr-rich. artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 TGAGGGTGCCGGTTTTGGGTA 0.647000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 28 84 1.77063e-15 2.2363e-15 1 1 0 SNX20 124460 broad.mit.edu 37 16 50707702 50707702 + Missense_Mutation SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:50707702A>T ENST00000330943.4 - 4 737 c.566T>A c.(565-567)cTg>cAg p.L189Q SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron NM_182854.2 NP_878274.1 Q7Z614 SNX20_HUMAN sorting nexin 20 189 PX. cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 AGCCTCGCGCAGCTCCGGCCG 0.736000 5 18 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34420400 34420400 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr10:34420400C>A ENST00000374789.3 - 23 3865 c.3540G>T c.(3538-3540)gaG>gaT p.E1180D PARD3_ENST00000374794.3_Missense_Mutation_p.E1068D|PARD3_ENST00000374788.3_Missense_Mutation_p.E1177D|PARD3_ENST00000545260.1_Missense_Mutation_p.E1090D|PARD3_ENST00000346874.4_Missense_Mutation_p.E1143D|PARD3_ENST00000545693.1_Missense_Mutation_p.E1164D|PARD3_ENST00000374790.3_Missense_Mutation_p.E1120D|PARD3_ENST00000350537.4_Missense_Mutation_p.E1134D NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1180 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CCCAGGGTTGCTCAAAACTAT 0.468000 28 85 4.22769e-11 4.93231e-11 1 1 0 PSG5 5673 broad.mit.edu 37 19 43679578 43679578 + Nonsense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:43679578G>C ENST00000404580.1 - 4 841 c.753C>G c.(751-753)taC>taG p.Y251* PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Nonsense_Mutation_p.Y344*|PSG5_ENST00000366175.3_Nonsense_Mutation_p.Y251*|PSG5_ENST00000342951.6_Nonsense_Mutation_p.Y251*|PSG5_ENST00000407356.1_Nonsense_Mutation_p.Y251* Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 251 Ig-like C2-type 2. female pregnancy extracellular region p.Y251Y(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) CTCCTGAACGGTAATAGGTGA 0.478000 107 291 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17326506 17326506 + Splice_Site SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:17326506C>G ENST00000452699.1 - 11 1213 c.1024_splice c.e11+1 p.G342_splice ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Splice_Site_p.G342_splice|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Splice_Site_p.G347_splice NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 347 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GGGGGCTCACCTGTCAGAGAG 0.607000 17 31 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42457975 42457975 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr15:42457975G>A ENST00000318006.5 - 17 1882 c.1720C>T c.(1720-1722)Cgt>Tgt p.R574C VPS39_ENST00000348544.4_Missense_Mutation_p.R585C NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 585 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) ACTCGATCACGTGGCAGAGAC 0.438000 34 123 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554409 140554409 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:140554409G>T ENST00000231137.3 + 1 2167 c.1993G>T c.(1993-1995)Ggc>Tgc p.G665C NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 665 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGGTGGACGGCTTCTCCCA 0.701000 61 424 3.13765e-25 4.4227e-25 1 1 0 RB1CC1 9821 broad.mit.edu 37 8 53558357 53558357 + Nonsense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr8:53558357C>A ENST00000025008.5 - 16 4415 c.3892G>T c.(3892-3894)Gaa>Taa p.E1298* RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.E1298*|RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.E1298* NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 1298 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TTAGCTTTTTCTTCCTGAAGC 0.348000 33 85 1.56442e-22 2.14653e-22 1 1 0 SMARCA4 6597 broad.mit.edu 37 19 11132438 11132438 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:11132438G>T ENST00000358026.2 + 19 2938 c.2654G>T c.(2653-2655)cGc>cTc p.R885L SMARCA4_ENST00000450717.3_Missense_Mutation_p.R885L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R885L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R885L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R885L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R885L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R885L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R885L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R885L NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 885 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GAAGGTCACCGCATGAAGAAC 0.622000 """F, N, Mis""" NSCLC 8 40 0.000157383 0.000167093 1 1 0 SDHA 6389 broad.mit.edu 37 5 225612 225612 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:225612G>T ENST00000264932.6 + 4 506 c.391G>T c.(391-393)Gac>Tac p.D131Y SDHA_ENST00000504309.1_Missense_Mutation_p.D131Y|SDHA_ENST00000510361.1_Intron NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 131 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) GAAGGGCTCCGACTGGCTGGG 0.617000 Familial Paragangliomas 42 119 8.16277e-20 1.08749e-19 1 1 0 CR2 1380 broad.mit.edu 37 1 207644833 207644833 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:207644833G>C ENST00000367057.3 + 9 1748 c.1559G>C c.(1558-1560)cGt>cCt p.R520P CR2_ENST00000367058.3_Missense_Mutation_p.R520P|CR2_ENST00000458541.2_Intron|CR2_ENST00000367059.3_Missense_Mutation_p.R520P NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 520 Sushi 8. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 ATGGAGATTCGTCTTTGTAAA 0.378000 177 116 0 0 1 0 0 BCKDHB 594 broad.mit.edu 37 6 80881011 80881011 + Missense_Mutation SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:80881011A>G ENST00000320393.6 + 6 693 c.646A>G c.(646-648)Aga>Gga p.R216G BCKDHB_ENST00000356489.5_Missense_Mutation_p.R216G|BCKDHB_ENST00000545529.1_3'UTR NM_183050.2 NP_898871.1 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 216 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) GGTTATACCCAGAAGCCCTTT 0.343000 16 35 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52402841 52402841 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:52402841G>T ENST00000420323.2 + 37 6111 c.5850G>T c.(5848-5850)ccG>ccT p.P1950P NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1950 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCGATGGGCCGGTGGATGCCA 0.572000 86 246 2.01309e-51 3.16124e-51 1 1 0 EEF1A1 1915 broad.mit.edu 37 6 74229616 74229616 + Missense_Mutation SNP T T G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:74229616T>G ENST00000316292.9 - 1 1125 c.134A>C c.(133-135)gAg>gCg p.E45A EEF1A1_ENST00000331523.2_Missense_Mutation_p.E45A|EEF1A1_ENST00000309268.6_Missense_Mutation_p.E45A NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 45 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 CTCAGCAGCCTCCTTCTCAAA 0.423000 13 135 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67555484 67555484 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr15:67555484G>T ENST00000335894.4 + 3 265 c.199G>T c.(199-201)Gtt>Ttt p.V67F IQCH_ENST00000512104.1_Missense_Mutation_p.V67F|IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 67 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) GTATTTAAATGTTGTAAACCA 0.328000 19 51 1.2644e-06 1.38148e-06 1 1 0 ZNF423 23090 broad.mit.edu 37 16 49671979 49671979 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:49671979C>A ENST00000561648.1 - 4 1137 c.1084G>T c.(1084-1086)Ggc>Tgc p.G362C ZNF423_ENST00000563137.2_Missense_Mutation_p.G302C|ZNF423_ENST00000262383.2_Missense_Mutation_p.G362C|ZNF423_ENST00000567169.1_Missense_Mutation_p.G245C|ZNF423_ENST00000535559.1_Missense_Mutation_p.G245C|ZNF423_ENST00000562871.1_Missense_Mutation_p.G302C|ZNF423_ENST00000562520.1_Missense_Mutation_p.G302C NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 362 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GCCACGCTGCCCAGTACAGGG 0.662000 12 47 1.61879e-10 1.86229e-10 1 1 0 FLG2 388698 broad.mit.edu 37 1 152327479 152327479 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:152327479C>T ENST00000388718.5 - 3 2855 c.2783G>A c.(2782-2784)gGc>gAc p.G928D FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 928 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGACTTGAGCCAGAACCATG 0.478000 164 907 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80635962 80635962 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:80635962G>T ENST00000369816.4 - 2 537 c.237C>A c.(235-237)ctC>ctA p.L79L NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 79 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) TATAGATAATGAGCACTAGAC 0.368000 21 54 9.95505e-16 1.26506e-15 1 1 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 285 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654189 46654189 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr22:46654189G>A ENST00000253255.5 - 1 5030 c.5031C>T c.(5029-5031)atC>atT p.I1677I NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1677 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GGATTCGGACGATCTGGTCAT 0.423000 54 100 0 0 1 0 0 CEL 1056 broad.mit.edu 37 9 135942012 135942012 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr9:135942012G>T ENST00000372080.4 + 5 659 c.643G>T c.(643-645)Ggg>Tgg p.G215W CEL_ENST00000351304.7_Missense_Mutation_p.G212W NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 212 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CACGCTCTTCGGGGAGTCTGC 0.617000 103 236 2.12867e-53 3.36835e-53 1 1 0 TTC12 54970 broad.mit.edu 37 11 113237006 113237006 + Missense_Mutation SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:113237006A>T ENST00000529221.1 + 22 2207 c.2102A>T c.(2101-2103)tAc>tTc p.Y701F TTC12_ENST00000483239.2_Missense_Mutation_p.Y707F|TTC12_ENST00000393020.1_Intron|TTC12_ENST00000314756.3_Intron NM_017868.3 NP_060338.3 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 701 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) ACGATGAAATACATCAGTGAT 0.423000 35 115 0 0 1 0 0 GNA13 10672 broad.mit.edu 37 17 63049747 63049747 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:63049747C>A ENST00000439174.2 - 2 628 c.383G>T c.(382-384)cGg>cTg p.R128L GNA13_ENST00000541118.1_Missense_Mutation_p.R33L NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 128 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 CATGGGGGCCCGGGTATCAAA 0.488000 69 173 3.07281e-33 4.64862e-33 1 1 0 FOXK2 3607 broad.mit.edu 37 17 80559374 80559374 + Nonstop_Mutation SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:80559374A>T ENST00000335255.5 + 9 2156 c.1982A>T c.(1981-1983)tAg>tTg p.*661L FOXK2_ENST00000529652.1_3'UTR NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 0 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) GTCCAGAACTAGCGACCGGGA 0.602000 17 61 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332492 22332492 + RNA SNP A A C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr15:22332492A>C ENST00000558896.1 + 0 299 TATTTCTCTTATTACTATTTT 0.383000 4 167 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649835 47649835 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:47649835C>T ENST00000398742.2 + 5 1385 c.1336C>T c.(1336-1338)Cac>Tac p.H446Y GPR111_ENST00000296862.1_Missense_Mutation_p.H514Y|GPR111_ENST00000507065.1_Missense_Mutation_p.H446Y Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 514 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CCCAATAACACACCACAAGGG 0.433000 44 58 0 0 1 0 0 IFNA8 3445 broad.mit.edu 37 9 21409567 21409567 + Missense_Mutation SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr9:21409567A>T ENST00000380205.1 + 1 422 c.392A>T c.(391-393)gAg>gTg p.E131V NM_002170.3 NP_002161.2 P32881 IFNA8_HUMAN interferon, alpha 8 131 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) GGGGTGATAGAGTCTCCCCTG 0.483000 63 232 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124385987 124385987 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:124385987G>A ENST00000360013.3 + 47 6784 c.6657G>A c.(6655-6657)caG>caA p.Q2219Q KALRN_ENST00000291478.4_Silent_p.Q522Q|KALRN_ENST00000459915.1_Silent_p.Q311Q|KALRN_ENST00000393496.1_Silent_p.Q560Q|KALRN_ENST00000428018.2_Silent_p.Q490Q NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2218 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCTGGGTGCAGGACATCAATC 0.532000 5 83 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21236243 21236243 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:21236243G>A ENST00000233242.1 - 25 4132 c.4005C>T c.(4003-4005)ttC>ttT p.F1335F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1335 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TAGGGACTTGGAACTCTCGAG 0.473000 44 129 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165947027 165947027 + Missense_Mutation SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:165947027A>T ENST00000360093.3 - 28 6127 c.5636T>A c.(5635-5637)aTg>aAg p.M1879K AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.M1830K|SCN3A_ENST00000283254.7_Missense_Mutation_p.M1879K|SCN3A_ENST00000540861.1_Missense_Mutation_p.M362K NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1879 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GTTTGATGCCATAAACCTGTC 0.433000 33 76 0 0 1 0 0 RP9 6100 broad.mit.edu 37 7 33139017 33139017 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:33139017G>C ENST00000297157.3 - 3 232 c.215C>G c.(214-216)cCa>cGa p.P72R NM_203288.1 NP_976033.1 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 (autosomal dominant) 72 PIM1-binding (By similarity). RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding p.P72R(2) large_intestine(3)|lung(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(11;0.0403) TGGTACATCTGGTATGCAATC 0.483000 5 146 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056418 9056418 + Nonsense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:9056418G>T ENST00000397910.4 - 3 31231 c.31028C>A c.(31027-31029)tCa>tAa p.S10343* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10345 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGGATGGTTGAAGAATCAGT 0.527000 28 86 9.39395e-14 1.14784e-13 1 1 0 CNKSR2 22866 broad.mit.edu 37 X 21450746 21450746 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chrX:21450746C>A ENST00000425654.2 + 3 725 c.245C>A c.(244-246)aCa>aAa p.T82K CNKSR2_ENST00000279451.4_Missense_Mutation_p.T82K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.T82K|CNKSR2_ENST00000379510.3_Missense_Mutation_p.T82K NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 82 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 GGCTTGGAAACAGAAAATCTA 0.313000 9 118 2.27111e-07 2.50794e-07 1 1 0 INTS5 80789 broad.mit.edu 37 11 62416148 62416148 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:62416148G>A ENST00000330574.2 - 2 1456 c.1404C>T c.(1402-1404)ccC>ccT p.P468P NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 468 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 GCACCAAGCGGGGAGGTGGGG 0.597000 64 180 0 0 1 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205652 36205652 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:36205652G>A ENST00000392197.2 + 3 442 c.124G>A c.(124-126)Gcc>Acc p.A42T ZBTB32_ENST00000262630.3_Missense_Mutation_p.A42T Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 42 BTB. DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGAGTTCCCCGCCCACAGCCT 0.647000 37 112 0 0 1 0 0 PGBD5 79605 broad.mit.edu 37 1 230503892 230503892 + Splice_Site SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:230503892T>A ENST00000321327.2 - 2 124 c.e2-2 PGBD5_ENST00000391860.1_Intron|PGBD5_ENST00000525115.1_Intron Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) AGGAGGAGGCTGCGGAGGAGG 0.493000 115 76 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55141105 55141105 + Nonsense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:55141105C>A ENST00000257290.5 + 12 2082 c.1751C>A c.(1750-1752)tCa>tAa p.S584* FIP1L1_ENST00000507166.1_Nonsense_Mutation_p.S344* NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 584 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CCTTATGACTCAAGATGGGAG 0.443000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 37 110 2.26627e-22 3.09924e-22 1 1 0 RPS6KA5 9252 broad.mit.edu 37 14 91413824 91413824 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:91413824C>G ENST00000261991.3 - 4 638 c.465G>C c.(463-465)caG>caC p.Q155H RPS6KA5_ENST00000418736.2_Missense_Mutation_p.Q155H|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.Q76H NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 155 Protein kinase 1. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) CAACATAAATCTGCACCTCAT 0.343000 4 185 0 0 1 0 0 KLHL31 401265 broad.mit.edu 37 6 53516940 53516940 + Missense_Mutation SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:53516940A>G ENST00000370905.3 - 3 1501 c.1361T>C c.(1360-1362)gTg>gCg p.V454A KLHL31_ENST00000407079.1_Missense_Mutation_p.V454A NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) GCAGCGCGCCACCTCCAGGGG 0.697000 27 62 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44839157 44839157 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr20:44839157C>G ENST00000372262.3 - 6 1475 c.1075G>C c.(1075-1077)Gag>Cag p.E359Q CDH22_ENST00000537909.1_Missense_Mutation_p.E359Q|CDH22_ENST00000474438.1_5'UTR NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 359 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TTGAGGGCCTCCAGGATCACG 0.687000 7 82 0 0 1 0 0 CRLF2 64109 broad.mit.edu 37 X 1331519 1331519 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chrX:1331519C>T ENST00000381567.3 - 1 8 c.9G>A c.(7-9)cgG>cgA p.R3R CRLF2_ENST00000381566.1_Silent_p.R3R|CRLF2_ENST00000467626.1_5'UTR NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 3 extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GCAGAACCAGCCGCCCCATGC 0.517000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 11 39 0 0 1 0 0 NDST1 3340 broad.mit.edu 37 5 149901000 149901000 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:149901000G>T ENST00000261797.6 + 2 686 c.184G>T c.(184-186)Gtg>Ttg p.V62L NDST1_ENST00000523767.1_Missense_Mutation_p.V62L NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 62 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCGCCGCCTGTGGCCCCCAG 0.657000 41 122 2.47872e-24 3.48202e-24 1 1 0 GFOD1 54438 broad.mit.edu 37 6 13486957 13486957 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:13486957C>T ENST00000379287.3 - 1 830 c.166G>A c.(166-168)Gat>Aat p.D56N GFOD1_ENST00000603223.1_Missense_Mutation_p.D56N|GFOD1-AS1_ENST00000446001.1_RNA NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 56 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) AGCACCTCATCAATGCGGCTA 0.612000 61 228 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112506489 112506489 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:112506489C>T ENST00000230538.7 - 9 1424 c.1027G>A c.(1027-1029)Gag>Aag p.E343K LAMA4_ENST00000424408.2_Missense_Mutation_p.E336K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E336K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E336K NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 343 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ATCGTGTTCTCAGCATTGTTG 0.383000 11 241 0 0 1 0 0 ZFY 7544 broad.mit.edu 37 Y 2829332 2829332 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chrY:2829332C>A ENST00000155093.3 + 3 600 c.279C>A c.(277-279)gtC>gtA p.V93V ZFY_ENST00000383052.1_Silent_p.V93V|ZFY_ENST00000431102.1_Intron|ZFY_ENST00000449237.1_Silent_p.V67V NM_003411.3 NP_003402.2 P08048 ZFY_HUMAN zinc finger protein, Y-linked 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3) 8 CTGAAAATGTCATCATTCCTG 0.403000 96 64 1.80868e-48 2.79769e-48 1 1 0 LRTM1 57408 broad.mit.edu 37 3 54959211 54959211 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:54959211G>T ENST00000273286.5 - 2 201 c.39C>A c.(37-39)gtC>gtA p.V13V CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 13 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) CCTGGAGCAGGACAATCACAC 0.493000 13 62 1.5842e-08 1.7731e-08 1 1 0 NFASC 23114 broad.mit.edu 37 1 204937425 204937425 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:204937425C>A ENST00000367172.4 + 9 1083 c.755C>A c.(754-756)aCc>aAc p.T252N NFASC_ENST00000367170.4_Missense_Mutation_p.T252N|NFASC_ENST00000367171.4_Missense_Mutation_p.T252N|NFASC_ENST00000401399.1_Missense_Mutation_p.T252N|NFASC_ENST00000360049.4_Missense_Mutation_p.T263N|NFASC_ENST00000367169.4_Missense_Mutation_p.T252N|NFASC_ENST00000403080.1_Missense_Mutation_p.T252N|NFASC_ENST00000339876.6_Missense_Mutation_p.T252N|NFASC_ENST00000338515.6_Missense_Mutation_p.T252N|NFASC_ENST00000539706.1_Missense_Mutation_p.T263N|NFASC_ENST00000338586.6_Missense_Mutation_p.T252N|NFASC_ENST00000513543.1_Missense_Mutation_p.T263N|NFASC_ENST00000404076.1_Missense_Mutation_p.T246N|NFASC_ENST00000404907.1_Missense_Mutation_p.T263N O94856 NFASC_HUMAN neurofascin 252 Ig-like C2-type 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCCCAGGGCACCGCGAGCAGC 0.587000 33 312 3.66082e-28 5.28642e-28 1 1 0 NELL1 4745 broad.mit.edu 37 11 21592356 21592356 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:21592356C>G ENST00000298925.5 + 19 2264 c.2111C>G c.(2110-2112)cCa>cGa p.P704R NELL1_ENST00000325319.5_Missense_Mutation_p.P619R|NELL1_ENST00000532434.1_Missense_Mutation_p.P629R|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.P676R Q92832 NELL1_HUMAN NEL-like 1 (chicken) 676 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TGCCAGAATCCAAGTGCTGAC 0.438000 45 122 0 0 1 0 0 RACGAP1 29127 broad.mit.edu 37 12 50394958 50394958 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:50394958G>A ENST00000434422.1 - 8 928 c.627C>T c.(625-627)gaC>gaT p.D209D RACGAP1_ENST00000551016.1_Silent_p.D209D|RACGAP1_ENST00000547905.1_Silent_p.D209D|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000454520.2_Silent_p.D209D|RACGAP1_ENST00000427314.2_Silent_p.D209D|RACGAP1_ENST00000312377.5_Silent_p.D209D Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 209 Interaction with SLC26A8. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 TTCTTACCTGGTCTACTGCAG 0.468000 11 57 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054138 29054138 + Missense_Mutation SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:29054138A>T ENST00000377173.2 - 1 952 c.888T>A c.(886-888)gaT>gaA p.D296E NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 CCTCCTTCATATCTTTATTTC 0.398000 11 76 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170934354 170934354 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:170934354C>G ENST00000367759.4 + 7 592 c.438C>G c.(436-438)atC>atG p.I146M MROH9_ENST00000367758.3_Missense_Mutation_p.I146M NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TGGTGATCATCAACAAGGTGT 0.368000 56 230 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274226 74274226 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:74274226C>T ENST00000409262.3 + 1 777 c.777C>T c.(775-777)ttC>ttT p.F259F NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 259 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTGCCCCTTTCAGATCTCCCC 0.602000 4 127 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31039649 31039649 + Nonsense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:31039649C>A ENST00000355537.3 + 4 3270 c.3123C>A c.(3121-3123)tgC>tgA p.C1041* NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1041 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CAGTCAACTGCAAAGACCAAG 0.542000 31 116 2.80507e-11 3.29118e-11 1 1 0 BCL9 607 broad.mit.edu 37 1 147087647 147087647 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:147087647C>G ENST00000234739.3 + 7 1345 c.605C>G c.(604-606)tCt>tGt p.S202C BCL9_ENST00000473292.1_3'UTR NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 202 Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) ACTATCGTCTCTTTCCACATC 0.413000 T """IGH@, IGL@""" B-ALL 24 126 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509302 106509302 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:106509302G>T ENST00000359195.3 + 2 1606 c.1296G>T c.(1294-1296)caG>caT p.Q432H PIK3CG_ENST00000496166.1_Missense_Mutation_p.Q432H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.Q432H NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 432 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TGAACCTCCAGATCTACTGCG 0.517000 42 111 2.215e-12 2.62873e-12 1 1 0 ST8SIA3 51046 broad.mit.edu 37 18 55027316 55027316 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr18:55027316C>A ENST00000324000.3 + 4 2985 c.951C>A c.(949-951)caC>caA p.H317Q NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 317 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) AAGAGATCCACTTGTATGGAT 0.418000 35 72 9.8876e-21 1.3345e-20 1 1 0 PPEF2 5470 broad.mit.edu 37 4 76809404 76809404 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:76809404C>A ENST00000286719.7 - 6 851 c.495G>T c.(493-495)cgG>cgT p.R165R NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 165 Catalytic. 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) AGGTTGAGACCCGGTTGATGT 0.493000 15 165 2.215e-12 2.62873e-12 1 1 0 ACSBG2 81616 broad.mit.edu 37 19 6156530 6156530 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:6156530G>C ENST00000588304.1 + 5 771 c.325G>C c.(325-327)Gag>Cag p.E109Q ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E159Q|ACSBG2_ENST00000586696.1_Missense_Mutation_p.E159Q|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E159Q Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 159 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTTGCTGGTTGAGAATGATCA 0.488000 4 177 0 0 1 0 0 TRAPPC4 51399 broad.mit.edu 37 11 118889681 118889681 + Splice_Site SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:118889681G>A ENST00000533632.1 + 1 539 c.e1+1 TRAPPC4_ENST00000359005.4_Splice_Site|TRAPPC4_ENST00000528230.1_Splice_Site|TRAPPC4_ENST00000525303.1_Splice_Site|TRAPPC4_ENST00000533058.1_Splice_Site|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000434101.2_Splice_Site NM_016146.4 NP_057230.1 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) GGCATCCGAGGTGGGCTAGGC 0.627000 5 106 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236738176 236738176 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:236738176C>G ENST00000366582.3 - 23 3226 c.3112G>C c.(3112-3114)Gct>Cct p.A1038P HEATR1_ENST00000366581.2_Intron NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1038 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGTTGTTCAGCCATAGGCAAT 0.408000 19 124 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21674752 21674752 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chrX:21674752G>T ENST00000379499.2 - 1 1696 c.1155C>A c.(1153-1155)gcC>gcA p.A385A NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 385 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 GCGAGTCGTCGGCCAGGGGAG 0.677000 8 14 1.12685e-05 1.2088e-05 1 1 0 STON2 85439 broad.mit.edu 37 14 81744032 81744032 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:81744032G>T ENST00000555447.1 - 6 2035 c.1623C>A c.(1621-1623)ttC>ttA p.F541L STON2_ENST00000267540.2_Missense_Mutation_p.F541L NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 541 SHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CTGCATGGATGAAACTCAGGA 0.498000 34 96 6.00712e-18 7.92633e-18 1 1 0 KLHL1 57626 broad.mit.edu 37 13 70293649 70293649 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr13:70293649G>A ENST00000377844.4 - 9 2626 c.1867C>T c.(1867-1869)Cat>Tat p.H623Y KLHL1_ENST00000545028.1_Missense_Mutation_p.H430Y NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 623 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TTATTTGTATGAGGATCATAA 0.408000 4 102 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52818371 52818371 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:52818371C>A ENST00000273283.2 + 11 1309 c.1285C>A c.(1285-1287)Ccg>Acg p.P429T ITIH1_ENST00000540715.1_Missense_Mutation_p.P287T|ITIH1_ENST00000537050.1_Missense_Mutation_p.P141T|ITIH1_ENST00000542827.1_Missense_Mutation_p.P429T NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 429 Hyaluronan-binding.|VWFA. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GGGCAGGTTCCCGCTCTACAA 0.582000 23 76 5.35356e-11 6.21073e-11 1 1 0 EVPL 2125 broad.mit.edu 37 17 74005913 74005913 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:74005913G>A ENST00000301607.3 - 22 3626 c.3373C>T c.(3373-3375)Cgg>Tgg p.R1125W EVPL_ENST00000586740.1_Missense_Mutation_p.R1147W NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1125 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTGATAGCCCGCTCCAGGTCT 0.642000 4 144 0 0 1 0 0 GSAP 54103 broad.mit.edu 37 7 77006709 77006709 + Splice_Site SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:77006709T>A ENST00000257626.7 - 9 655 c.e9-2 NM_017439.3 NP_059135.2 gamma-secretase activating protein TTTAATCACCTAAAAATGCaa 0.303000 6 138 0 0 1 0 0 EXTL2 2135 broad.mit.edu 37 1 101343225 101343225 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:101343225C>G ENST00000370114.3 - 3 1676 c.240G>C c.(238-240)ttG>ttC p.L80F EXTL2_ENST00000535414.1_Missense_Mutation_p.L67F|EXTL2_ENST00000370113.3_Missense_Mutation_p.L80F NM_001033025.2|NM_001261440.1 NP_001028197.1|NP_001248369.1 Q9UBQ6 EXTL2_HUMAN exostosin-like glycosyltransferase 2 80 N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 14 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) TTAAAAGTTTCAATAAGAGAT 0.398000 11 176 0 0 1 0 0 MCM5 4174 broad.mit.edu 37 22 35811868 35811868 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr22:35811868C>T ENST00000216122.4 + 10 1404 c.1250C>T c.(1249-1251)tCg>tTg p.S417L MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.S374L NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 417 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 CTGACAGCCTCGGTGATGAGG 0.592000 127 349 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137728897 137728897 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:137728897G>A ENST00000314358.5 + 9 2867 c.2667G>A c.(2665-2667)aaG>aaA p.K889K KDM3B_ENST00000394866.1_Silent_p.K545K|KDM3B_ENST00000542866.1_5'UTR NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 889 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GCAAAGTGAAGAAGCTGAAGC 0.502000 28 114 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 149983170 149983170 + Missense_Mutation SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:149983170T>C ENST00000543571.1 - 8 3635 c.3088A>G c.(3088-3090)Atc>Gtc p.I1030V LATS1_ENST00000253339.5_Missense_Mutation_p.I1030V NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 1030 AGC-kinase C-terminal. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) GGGTGTGTGATTTTAGGAATG 0.368000 13 137 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231103065 231103065 + Silent SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:231103065T>C ENST00000392045.3 + 3 489 c.375T>C c.(373-375)gaT>gaC p.D125D SP140_ENST00000544128.1_3'UTR|SP140_ENST00000486687.2_Silent_p.D125D|SP140_ENST00000417495.3_Silent_p.D125D|SP140_ENST00000343805.6_Silent_p.D125D|SP140_ENST00000350136.5_Silent_p.D105D|SP140_ENST00000420434.3_Silent_p.D125D|SP140_ENST00000373645.3_Silent_p.D125D NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 125 HSR. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CCTATCCTGATTTAAACGAGA 0.413000 21 94 0 0 1 0 0 JPH2 57158 broad.mit.edu 37 20 42815293 42815293 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr20:42815293C>A ENST00000372980.3 - 1 925 c.53G>T c.(52-54)tGg>tTg p.W18L JPH2_ENST00000342272.3_Missense_Mutation_p.W18L NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 18 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCCCCCCTCCCAGCCCCCGCA 0.632000 35 101 1.06647e-15 1.35108e-15 1 1 0 ALOX5 240 broad.mit.edu 37 10 45920487 45920487 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr10:45920487G>A ENST00000374391.2 + 6 794 c.741G>A c.(739-741)cgG>cgA p.R247R ALOX5_ENST00000542434.1_Silent_p.R247R NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 247 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TGTTGATCCGGCGCTGCACAG 0.602000 53 148 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100222622 100222622 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr9:100222622G>T ENST00000355295.4 + 7 1313 c.1018G>T c.(1018-1020)Gac>Tac p.D340Y TDRD7_ENST00000422139.2_Missense_Mutation_p.D266Y NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 340 Lotus/OST-HTH 3. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) TATGGCAGGAGACTTTAAAGA 0.448000 23 56 9.95505e-16 1.26506e-15 1 1 0 ARPP21 10777 broad.mit.edu 37 3 35724361 35724361 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:35724361C>A ENST00000187397.4 + 4 607 c.151C>A c.(151-153)Caa>Aaa p.Q51K ARPP21_ENST00000412048.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000438071.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000441454.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000396482.2_Missense_Mutation_p.Q51K|ARPP21_ENST00000436702.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000444190.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000428373.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000396481.2_Missense_Mutation_p.Q51K|ARPP21_ENST00000427542.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000432682.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q51K|ARPP21_ENST00000474696.1_Missense_Mutation_p.Q51K NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 51 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GGCTCAGAATCAAGAAAGAAG 0.343000 24 92 7.38237e-10 8.39922e-10 1 1 0 ATP10A 57194 broad.mit.edu 37 15 25953142 25953142 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr15:25953142C>A ENST00000356865.6 - 12 2667 c.2556G>T c.(2554-2556)gaG>gaT p.E852D NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 852 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCAGGTTGGTCTCCAGGCGAA 0.542000 14 58 4.3838e-07 4.82803e-07 1 1 0 NRXN1 9378 broad.mit.edu 37 2 50850470 50850470 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:50850470G>T ENST00000404971.1 - 7 2554 c.1215C>A c.(1213-1215)gtC>gtA p.V405V NRXN1_ENST00000406316.2_Silent_p.V372V|NRXN1_ENST00000405472.3_Silent_p.V372V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.V372V|NRXN1_ENST00000401669.2_Silent_p.V372V|NRXN1_ENST00000406859.3_Silent_p.V372V NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 372 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GATTCCTGGTGACTTTCACAT 0.443000 19 63 7.41877e-09 8.32596e-09 1 1 0 UBTF 7343 broad.mit.edu 37 17 42288499 42288499 + Nonsense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:42288499G>A ENST00000302904.4 - 12 1603 c.1111C>T c.(1111-1113)Cag>Tag p.Q371* UBTF_ENST00000533177.1_Nonsense_Mutation_p.Q334*|UBTF_ENST00000527034.1_Nonsense_Mutation_p.Q334*|UBTF_ENST00000343638.5_Nonsense_Mutation_p.Q334*|UBTF_ENST00000526094.1_Nonsense_Mutation_p.Q334*|UBTF_ENST00000436088.1_Nonsense_Mutation_p.Q371*|UBTF_ENST00000393606.3_Nonsense_Mutation_p.Q334*|UBTF_ENST00000529383.1_Nonsense_Mutation_p.Q371*|CTB-175E5.7_ENST00000586560.1_RNA P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 371 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) AAGACCCGCTGCTGCTCCTCC 0.637000 14 243 0 0 1 0 0 DPRX 503834 broad.mit.edu 37 19 54137805 54137805 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:54137805C>A ENST00000376650.1 + 2 100 c.49C>A c.(49-51)Cac>Aac p.H17N NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 17 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) GATGCATTCACACAGGAAACG 0.438000 33 148 8.69298e-16 1.11152e-15 1 1 0 HUWE1 10075 broad.mit.edu 37 X 53610524 53610524 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chrX:53610524C>A ENST00000342160.3 - 41 5971 c.5514G>T c.(5512-5514)atG>atT p.M1838I HUWE1_ENST00000262854.6_Missense_Mutation_p.M1838I Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1838 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TCACCTTTTCCATGGTATGAC 0.438000 42 36 3.54909e-21 4.80582e-21 1 1 0 ZAN 7455 broad.mit.edu 37 7 100364825 100364825 + RNA SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:100364825T>C ENST00000542585.1 + 0 4953 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ATCAAAGCCGTCCACGTGACA 0.587000 21 82 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059204 248059204 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:248059204G>T ENST00000537741.1 + 3 573 c.316G>T c.(316-318)Ggt>Tgt p.G106C OR2W3_ENST00000360358.3_Missense_Mutation_p.G106C Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCTGTTCCTGGGTCTGGGTGG 0.557000 71 210 8.09925e-49 1.25751e-48 1 1 0 NXF3 56000 broad.mit.edu 37 X 102333543 102333543 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chrX:102333543C>A ENST00000395065.3 - 17 1497 c.1396G>T c.(1396-1398)Ggt>Tgt p.G466C NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Missense_Mutation_p.G138C NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 466 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 AGAACAGAACCCTGAGACTGT 0.532000 189 82 1.47353e-81 2.36796e-81 1 1 0 C14orf37 145407 broad.mit.edu 37 14 58605152 58605152 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:58605152C>T ENST00000267485.7 - 2 1119 c.925G>A c.(925-927)Gcc>Acc p.A309T C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 309 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 TCACTTAAGGCAGAGGCAGCT 0.512000 18 236 0 0 1 0 0 KCTD7 154881 broad.mit.edu 37 7 66264340 66264340 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:66264340G>T ENST00000380828.2 + 9 1033 c.879G>T c.(877-879)ctG>ctT p.L293L KCTD7_ENST00000510829.2_Silent_p.L253L|RABGEF1_ENST00000284957.5_Silent_p.L253L|KCTD7_ENST00000451741.2_Silent_p.L253L|RABGEF1_ENST00000450873.2_Silent_p.L253L|RABGEF1_ENST00000437078.2_Silent_p.L267L|RABGEF1_ENST00000439720.2_Silent_p.L266L|RABGEF1_ENST00000484547.2_3'UTR Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 0 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 CTCAGATGCTGTGTGTCCCTG 0.478000 16 64 8.28177e-16 1.06223e-15 1 1 0 GBGT1 26301 broad.mit.edu 37 9 136029298 136029298 + Missense_Mutation SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr9:136029298T>C ENST00000372040.3 - 7 1021 c.710A>G c.(709-711)cAg>cGg p.Q237R GBGT1_ENST00000372043.3_Missense_Mutation_p.S231G|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Missense_Mutation_p.Q220R|GBGT1_ENST00000472281.1_5'UTR globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) GGGGAACTGCTGGCGGGGAAC 0.612000 46 140 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137988633 137988633 + Missense_Mutation SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:137988633T>A ENST00000409968.1 + 8 1921 c.1743T>A c.(1741-1743)agT>agA p.S581R THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S581R|THSD7B_ENST00000413152.2_Missense_Mutation_p.S550R thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TATCAGGGAGTCTTTGCCCAG 0.468000 23 59 0 0 1 0 0 PKD2 5311 broad.mit.edu 37 4 88996618 88996618 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:88996618G>C ENST00000237596.2 + 15 2745 c.2679G>C c.(2677-2679)agG>agC p.R893S PKD2_ENST00000508588.1_Missense_Mutation_p.R311S|PKD2_ENST00000502363.1_Missense_Mutation_p.R311S|PKD2_ENST00000511337.1_3'UTR NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 893 C-terminal coiled coil domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) AGGATGAAAGGCTGGGTCGTG 0.478000 137 444 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704947 52704947 + Nonsense_Mutation SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:52704947A>T ENST00000287727.3 + 4 2030 c.1858A>T c.(1858-1860)Aaa>Taa p.K620* ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.K620*|ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.K620*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.K620* NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 620 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 TATTCTTGGGAAAGCAAAATT 0.328000 54 130 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018407 36018407 + Silent SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:36018407T>C ENST00000452271.2 - 1 805 c.777A>G c.(775-777)agA>agG p.R259R SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 132 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTGGCCAAATCTCCCTGCCT 0.627000 3 10 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31622773 31622773 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:31622773G>A ENST00000319386.3 + 9 1745 c.752G>A c.(751-753)gGt>gAt p.G251D CCDC129_ENST00000409210.1_Missense_Mutation_p.G307D|CCDC129_ENST00000451887.2_Missense_Mutation_p.G425D|CCDC129_ENST00000407970.3_Missense_Mutation_p.G399D Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 399 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 GAAGAGACTGGTAATCCTCTT 0.303000 13 204 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33597741 33597741 + Silent SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:33597741A>T ENST00000170564.2 + 10 1535 c.1221A>T c.(1219-1221)acA>acT p.T407T NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 407 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) ACCCAGGGACACACAGTAAGC 0.507000 33 94 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58602127 58602127 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:58602127G>T ENST00000287275.1 - 6 1050 c.660C>A c.(658-660)tcC>tcA p.S220S GLYATL2_ENST00000532258.1_Silent_p.S220S NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 220 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TCAACTCACAGGACTGTTCCA 0.433000 28 95 4.59853e-10 5.26092e-10 1 1 0 ZBTB20 26137 broad.mit.edu 37 3 114070631 114070631 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:114070631G>A ENST00000462705.1 - 11 896 c.75C>T c.(73-75)cgC>cgT p.R25R ZBTB20_ENST00000393785.2_Silent_p.R25R|ZBTB20_ENST00000481632.1_Silent_p.R25R|ZBTB20_ENST00000464560.1_Silent_p.R25R|ZBTB20_ENST00000471418.1_Silent_p.R25R|ZBTB20_ENST00000474710.1_Silent_p.R98R|ZBTB20_ENST00000357258.3_Silent_p.R25R NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GGCCACGGTTGCGCTGCTCGT 0.607000 26 75 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19378026 19378026 + Silent SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:19378026T>C ENST00000550708.1 + 1 505 c.433T>C c.(433-435)Ttg>Ctg p.L145L NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGCCGTCCCTTGCTCTATCC 0.438000 38 306 0 0 1 0 0 CCSER1 401145 broad.mit.edu 37 4 91230436 91230436 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:91230436C>G ENST00000509176.1 + 2 1289 c.1001C>G c.(1000-1002)tCt>tGt p.S334C CCSER1_ENST00000432775.2_Missense_Mutation_p.S334C|CCSER1_ENST00000333691.8_Missense_Mutation_p.S334C NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 AGCACTGAATCTAATTCATTA 0.423000 46 91 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37326823 37326823 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr22:37326823C>A ENST00000262825.5 + 8 1198 c.981C>A c.(979-981)gtC>gtA p.V327V CSF2RB_ENST00000406230.1_Silent_p.V327V|CSF2RB_ENST00000536485.1_Silent_p.V268V|CSF2RB_ENST00000403662.3_Silent_p.V321V NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 321 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) AATACATCGTCTCTGTTCAGC 0.617000 36 129 2.19358e-23 3.04009e-23 1 1 0 SMARCD1 6602 broad.mit.edu 37 12 50483693 50483693 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:50483693G>T ENST00000394963.4 + 7 1196 c.798G>T c.(796-798)gaG>gaT p.E266D SMARCD1_ENST00000548573.1_Missense_Mutation_p.E64D|SMARCD1_ENST00000381513.4_Missense_Mutation_p.E266D NM_003076.4 NP_003067.3 Q96GM5 SMRD1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 266 Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 18 CTACCCAGGAGACCGATGGCT 0.572000 26 84 5.45727e-16 7.04329e-16 1 1 0 SEMA6D 80031 broad.mit.edu 37 15 48060806 48060806 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr15:48060806C>A ENST00000316364.5 + 18 2233 c.1794C>A c.(1792-1794)acC>acA p.T598T SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000355997.3_Silent_p.T579T|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000558816.1_Silent_p.T579T|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000536845.2_Silent_p.T598T|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000389433.2_Silent_p.T579T NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 598 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CTTCTGTTACCACAATGGCAA 0.368000 19 57 8.34094e-07 9.13742e-07 1 1 0 NSMAF 8439 broad.mit.edu 37 8 59512551 59512551 + Missense_Mutation SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr8:59512551T>A ENST00000038176.3 - 17 1522 c.1310A>T c.(1309-1311)gAt>gTt p.D437V NSMAF_ENST00000427130.2_Missense_Mutation_p.D468V NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 437 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) CGTTGCACCATCCAGACAGTT 0.343000 30 109 0 0 1 0 0 AVPR1B 553 broad.mit.edu 37 1 206225037 206225037 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:206225037C>T ENST00000367126.4 + 1 1062 c.597C>T c.(595-597)taC>taT p.Y199Y NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 199 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CACGGGCCTACCTCACCTGGA 0.577000 53 306 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15761681 15761681 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr10:15761681C>G ENST00000378076.3 - 1 443 c.90G>C c.(88-90)ttG>ttC p.L30F NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 30 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 GGGACCACAGCAACATCCCCA 0.711000 8 19 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118485175 118485175 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:118485175C>G ENST00000311085.8 + 18 3733 c.3653C>G c.(3652-3654)tCt>tGt p.S1218C DMXL1_ENST00000539542.1_Missense_Mutation_p.S1218C NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1218 p.S1218Y(1)|p.S1218C(1) breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TTTCCTGTTTCTTTATCGTGG 0.443000 4 250 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651319 121651319 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:121651319C>A ENST00000393386.2 + 12 2630 c.2219C>A c.(2218-2220)aCg>aAg p.T740K PTPRZ1_ENST00000449182.1_Missense_Mutation_p.T740K|PTPRZ1_ENST00000483028.1_3'UTR NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 740 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TTGGTCTCCACGGTCAACGTG 0.478000 39 112 2.59497e-14 3.20875e-14 1 1 0 TMCO4 255104 broad.mit.edu 37 1 20107215 20107215 + Nonsense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:20107215G>A ENST00000294543.6 - 4 278 c.37C>T c.(37-39)Cag>Tag p.Q13* TMCO4_ENST00000375127.1_Nonsense_Mutation_p.Q13*|TMCO4_ENST00000375122.2_Nonsense_Mutation_p.Q13* NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 13 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) AGAGGCTGCTGAGGCAGCCTC 0.607000 8 65 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15937257 15937257 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:15937257C>T ENST00000504595.1 + 4 1919 c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C FBXL7_ENST00000329673.7_Missense_Mutation_p.R468C|FBXL7_ENST00000510662.1_Missense_Mutation_p.R433C NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 480 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.R480C(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CCACTGCAAGCGCTGCGTCAT 0.532000 13 26 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168106785 168106785 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:168106785G>T ENST00000409195.1 + 9 8972 c.8883G>T c.(8881-8883)gtG>gtT p.V2961V XIRP2_ENST00000409273.1_Silent_p.V2739V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V2961V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2786 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGTCGAGAGTGAAACAGTTTG 0.388000 6 199 2.0095e-06 2.18977e-06 1 1 0 FLNB 2317 broad.mit.edu 37 3 58139114 58139114 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:58139114G>T ENST00000357272.4 + 40 6615 c.6450G>T c.(6448-6450)caG>caT p.Q2150H FLNB_ENST00000295956.4_Missense_Mutation_p.S2127I|FLNB_ENST00000419752.2_Missense_Mutation_p.S1947I|FLNB_ENST00000429972.2_Missense_Mutation_p.S2116I|FLNB_ENST00000348383.5_Missense_Mutation_p.S2086I|FLNB_ENST00000358537.3_Missense_Mutation_p.S2103I|FLNB_ENST00000490882.1_Missense_Mutation_p.S2158I|FLNB_ENST00000493452.1_Missense_Mutation_p.S1934I O75369 FLNB_HUMAN filamin B, beta 0 Interaction with FLNA 1.|Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ATCAACAGCAGTGATATGTCG 0.602000 63 155 3.94896e-32 5.86663e-32 1 1 0 IGHV3OR16-8 388255 broad.mit.edu 37 16 33020692 33020692 + RNA SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:33020692G>T ENST00000565407.2 + 0 100 RP11-19N8.2_ENST00000567619.1_RNA GGTACAGCCTGGGGGGTCCCT 0.582000 83 276 1.52671e-32 2.28454e-32 1 1 0 AACS 65985 broad.mit.edu 37 12 125613930 125613930 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:125613930C>T ENST00000545511.1 + 4 5199 c.212C>T c.(211-213)tCc>tTc p.S71F AACS_ENST00000316519.6_Silent_p.I491I|AACS_ENST00000543665.1_5'UTR|AACS_ENST00000316543.10_Silent_p.I89I|AACS_ENST00000261686.6_Silent_p.I491I Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 0 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) CTAAGCCGATCCCTTGCCAGC 0.532000 114 456 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85970907 85970907 + Missense_Mutation SNP G G A rs138638103 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr10:85970907G>A ENST00000372117.3 + 13 1574 c.1471G>A c.(1471-1473)Gtg>Atg p.V491M CDHR1_ENST00000440770.2_Intron|CDHR1_ENST00000332904.3_Missense_Mutation_p.V491M NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 491 Cadherin 5. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GGGCTCCAGCGTGGTGGCTGT 0.572000 6 134 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049089 90049089 + Nonsense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:90049089C>T ENST00000330947.2 + 5 1240 c.880C>T c.(880-882)Cag>Tag p.Q294* LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.Q294*|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.Q294* NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 294 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) AGTTGATGTGCAGGCTTTTAC 0.358000 65 189 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152529152 152529152 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:152529152C>G ENST00000427231.2 - 37 4232 c.4030G>C c.(4030-4032)Gtg>Ctg p.V1344L NEB_ENST00000409198.1_Missense_Mutation_p.V1344L|NEB_ENST00000603639.1_Missense_Mutation_p.V1344L|NEB_ENST00000172853.10_Missense_Mutation_p.V1344L|NEB_ENST00000397345.3_Missense_Mutation_p.V1344L|NEB_ENST00000604864.1_Missense_Mutation_p.V1344L NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1344 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTGAAACCCACATGCTTTCCC 0.443000 7 193 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155577906 155577906 + Missense_Mutation SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:155577906A>G ENST00000461783.3 + 29 6030 c.4757A>G c.(4756-4758)aAa>aGa p.K1586R TIAM2_ENST00000360366.4_Missense_Mutation_p.K1610R|TIAM2_ENST00000528391.2_Missense_Mutation_p.K930R|TIAM2_ENST00000456144.1_Missense_Mutation_p.K1615R|TIAM2_ENST00000456877.2_Missense_Mutation_p.K898R|TIAM2_ENST00000367174.2_Missense_Mutation_p.K962R|TIAM2_ENST00000275246.7_Missense_Mutation_p.K511R|TIAM2_ENST00000529824.2_Missense_Mutation_p.K1615R|TIAM2_ENST00000318981.5_Missense_Mutation_p.K1586R Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1586 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGCCCTACTAAAGACATCGAA 0.552000 28 88 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182542723 182542723 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:182542723G>T ENST00000295108.3 - 2 1322 c.865C>A c.(865-867)Ccg>Acg p.P289T NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 289 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) TCGGCGGACGGTTCGTGTTTG 0.537000 32 112 1.45844e-13 1.77157e-13 1 1 0 ORC1 4998 broad.mit.edu 37 1 52861860 52861860 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:52861860C>A ENST00000371568.3 - 5 797 c.579G>T c.(577-579)aaG>aaT p.K193N ORC1_ENST00000371566.1_Missense_Mutation_p.K193N NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 193 cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CACTCTTACTCTTGGCTCTCA 0.502000 48 111 9.45407e-15 1.18319e-14 1 1 0 SLC7A13 157724 broad.mit.edu 37 8 87235286 87235286 + Silent SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr8:87235286A>T ENST00000297524.3 - 2 835 c.732T>A c.(730-732)acT>acA p.T244T SLC7A13_ENST00000419776.2_Silent_p.T235T|SLC7A13_ENST00000520624.1_5'UTR NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 244 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 GAGGTAACGCAGTAAATATGC 0.378000 85 170 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58125726 58125726 + Missense_Mutation SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:58125726A>G ENST00000357377.3 - 1 816 c.817T>C c.(817-819)Tct>Cct p.S273P NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) TAGAACACAGATGCAATTTTG 0.403000 46 159 0 0 1 0 0 RFNG 5986 broad.mit.edu 37 17 80007615 80007615 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:80007615G>A ENST00000310496.4 - 6 773 c.766C>T c.(766-768)Ccc>Tcc p.P256S RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Missense_Mutation_p.P130S NM_002917.1 NP_002908.1 Q9Y644 RFNG_HUMAN RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 256 cell differentiation|nervous system development|organ morphogenesis|pattern specification process extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) TGGAAGAGGGGGCTGTGCAGC 0.672000 8 21 0 0 1 0 0 GNRHR 2798 broad.mit.edu 37 4 68619559 68619559 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:68619559G>T ENST00000226413.4 - 1 519 c.495C>A c.(493-495)atC>atA p.I165I RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.I165I|RP11-453E17.1_ENST00000500538.2_RNA NM_000406.2 NP_000397.1 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor 165 multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 13 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) CACTACTGAGGATCCAGGCCA 0.468000 12 36 0.0202918 0.0205909 1 1 0 ZNF606 80095 broad.mit.edu 37 19 58499672 58499672 + Splice_Site SNP T T G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:58499672T>G ENST00000341164.4 - 6 925 c.e6-2 ZNF606_ENST00000536132.1_Splice_Site NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TCTGATTTCCTATGCATGGAG 0.517000 22 41 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34030155 34030155 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr21:34030155C>A ENST00000382499.2 - 19 2448 c.2449G>T c.(2449-2451)Gta>Tta p.V817L SYNJ1_ENST00000382491.3_Missense_Mutation_p.V773L|SYNJ1_ENST00000357345.3_Missense_Mutation_p.V778L|SYNJ1_ENST00000322229.7_Missense_Mutation_p.V778L|SYNJ1_ENST00000433931.2_Missense_Mutation_p.V817L|SYNJ1_ENST00000464778.1_5'UTR NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 778 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GCAAAGGTTACCTTTCCTTCT 0.403000 10 78 0.0135373 0.0137707 1 1 0 GPA33 10223 broad.mit.edu 37 1 167038193 167038193 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:167038193G>T ENST00000367868.3 - 3 724 c.381C>A c.(379-381)ggC>ggA p.G127G GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 127 Ig-like V-type. integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 ACTTGGTGTTGCCCTCCAGGT 0.562000 28 149 1.5548e-18 2.06473e-18 1 1 0 ZNF99 7652 broad.mit.edu 37 19 22952013 22952013 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:22952013G>T ENST00000397104.3 - 2 179 c.180C>A c.(178-180)aaC>aaA p.N60K ZNF99_ENST00000596209.1_Missense_Mutation_p.N39K zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GGAAGACCAGGTTTCTGTAGT 0.383000 25 170 4.43304e-23 6.12322e-23 1 1 0 GLIS1 148979 broad.mit.edu 37 1 54060494 54060494 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:54060494C>A ENST00000312233.2 - 3 648 c.82G>T c.(82-84)Ggc>Tgc p.G28C NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 28 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 AGGCTTCGGCCCGGGAGGTCC 0.711000 13 29 6.31663e-08 7.01281e-08 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55955618 55955618 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr10:55955618G>C ENST00000373965.2 - 11 1524 c.1130C>G c.(1129-1131)gCc>gGc p.A377G PCDH15_ENST00000395446.1_Missense_Mutation_p.A377G|PCDH15_ENST00000395432.2_Missense_Mutation_p.A340G|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A377G|PCDH15_ENST00000437009.1_Missense_Mutation_p.A377G|PCDH15_ENST00000373955.1_Missense_Mutation_p.A377G|PCDH15_ENST00000395433.1_Missense_Mutation_p.A355G|PCDH15_ENST00000414778.1_Missense_Mutation_p.A382G|PCDH15_ENST00000395430.1_Missense_Mutation_p.A377G|PCDH15_ENST00000361849.3_Missense_Mutation_p.A377G|PCDH15_ENST00000395438.1_Missense_Mutation_p.A377G|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.A377G|PCDH15_ENST00000320301.6_Missense_Mutation_p.A377G|PCDH15_ENST00000373957.3_Missense_Mutation_p.A355G NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 377 Cadherin 3. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCGGCAAAGGCAGGAAGAGG 0.368000 HNSCC(58;0.16) 27 86 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48925068 48925068 + Silent SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:48925068G>A ENST00000263269.3 + 10 2206 c.2118G>A c.(2116-2118)ccG>ccA p.P706P NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 706 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) AGCAGTACCCGCCCCTGAAGT 0.587000 52 162 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248084474 248084474 + Missense_Mutation SNP G G T rs151076604 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:248084474G>T ENST00000319968.4 + 1 155 c.155G>T c.(154-156)cGg>cTg p.R52L NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R52Q(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGGACCACCGGCTCCACACG 0.532000 48 214 2.22609e-26 3.15936e-26 1 1 0 RACGAP1 29127 broad.mit.edu 37 12 50394955 50394955 + Splice_Site SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:50394955C>A ENST00000434422.1 - 8 931 c.630_splice c.e8+1 p.Q210_splice RACGAP1_ENST00000551016.1_Splice_Site_p.Q210_splice|RACGAP1_ENST00000547905.1_Splice_Site_p.Q210_splice|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000454520.2_Splice_Site_p.Q210_splice|RACGAP1_ENST00000427314.2_Splice_Site_p.Q210_splice|RACGAP1_ENST00000312377.5_Splice_Site_p.Q210_splice Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 210 Interaction with SLC26A8. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 CTATTCTTACCTGGTCTACTG 0.458000 11 58 0.000978159 0.00102273 1 1 0 SERPINA11 256394 broad.mit.edu 37 14 94909507 94909507 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:94909507C>A ENST00000334708.3 - 4 1037 c.973G>T c.(973-975)Gac>Tac p.D325Y RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 325 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.D507Y(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) GGAAGTATGTCTTCCAGGTTA 0.423000 27 116 1.04121e-07 1.15287e-07 1 1 0 ZNF431 170959 broad.mit.edu 37 19 21366322 21366322 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:21366322G>T ENST00000311048.7 + 5 1360 c.1216G>T c.(1216-1218)Ggc>Tgc p.G406C ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 TGAAGTGTGTGGCAAAGCCTT 0.383000 24 83 3.28513e-13 3.96713e-13 1 1 0 SALL3 27164 broad.mit.edu 37 18 76754904 76754904 + Splice_Site SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr18:76754904G>T ENST00000536229.3 + 1 3223 c.2515_splice c.e1+1 p.R838_splice SALL3_ENST00000537592.2_Silent_p.R971R|SALL3_ENST00000575389.2_Splice_Site_p.R971_splice Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1043 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GCAGGGAGCGGGGTAAGTGTC 0.662000 16 36 1.02788e-11 1.20945e-11 1 1 0 PHKB 5257 broad.mit.edu 37 16 47622972 47622972 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:47622972G>C ENST00000455779.1 + 11 1191 c.1006G>C c.(1006-1008)Gaa>Caa p.E336Q PHKB_ENST00000323584.5_Missense_Mutation_p.E343Q|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Missense_Mutation_p.E336Q|PHKB_ENST00000299167.8_Missense_Mutation_p.E343Q Q93100 KPBB_HUMAN phosphorylase kinase, beta 343 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) AACATCATTGGAAGATCCCAA 0.343000 6 117 0 0 1 0 0 TOB1 10140 broad.mit.edu 37 17 48940480 48940480 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:48940480G>A ENST00000499247.2 - 2 1332 c.899C>T c.(898-900)cCt>cTt p.P300L TOB1_ENST00000268957.3_Missense_Mutation_p.P300L NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 300 negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GTACTGGAGAGGACTGAGGTT 0.418000 36 84 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47333995 47333995 + Missense_Mutation SNP A A C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr21:47333995A>C ENST00000400304.1 + 7 635 c.635A>C c.(634-636)cAc>cCc p.H212P PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000468429.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000400308.1_Intron P57721 PCBP3_HUMAN poly(rC) binding protein 3 225 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TTACTGCAGCACCCGCCGCTG 0.627000 14 32 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76255796 76255796 + Missense_Mutation SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:76255796A>G ENST00000529032.1 + 18 3203 c.3203A>G c.(3202-3204)tAc>tGc p.Y1068C C11orf30_ENST00000525038.1_Missense_Mutation_p.Y1069C|C11orf30_ENST00000524767.1_Missense_Mutation_p.Y1083C|C11orf30_ENST00000525919.1_Missense_Mutation_p.Y1069C|C11orf30_ENST00000334736.3_Missense_Mutation_p.Y1068C|C11orf30_ENST00000343878.3_Missense_Mutation_p.Y1068C|C11orf30_ENST00000524490.1_Missense_Mutation_p.Y970C|C11orf30_ENST00000533248.1_Missense_Mutation_p.Y977C Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1068 Gln-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CCAAAAATCTACGTGCAACCC 0.512000 51 201 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228559464 228559464 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:228559464C>T ENST00000570156.2 + 105 23930 c.23856C>T c.(23854-23856)atC>atT p.I7952I OBSCN_ENST00000422127.1_Silent_p.I6995I|OBSCN_ENST00000366707.4_Silent_p.I4629I NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6995 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.I7707M(1)|p.I7577M(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGCCCCTATCAGGGACATGG 0.692000 5 186 0 0 1 0 0 PSIP1 11168 broad.mit.edu 37 9 15486865 15486865 + Nonsense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr9:15486865G>C ENST00000380733.4 - 5 696 c.353C>G c.(352-354)tCa>tGa p.S118* PSIP1_ENST00000397519.2_Nonsense_Mutation_p.S118*|PSIP1_ENST00000380715.1_Nonsense_Mutation_p.S118*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.S118*|PSIP1_ENST00000380716.4_Nonsense_Mutation_p.S118* O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 118 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) ATCTTCCTTTGAAACACTAGT 0.323000 13 182 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186106048 186106048 + Silent SNP A A C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:186106048A>C ENST00000271588.4 + 87 13790 c.13561A>C c.(13561-13563)Aga>Cga p.R4521R HMCN1_ENST00000367492.2_Silent_p.R4521R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4521 Ig-like C2-type 44. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGTCCTTGTCAGAGTGCCAGT 0.398000 249 177 0 0 1 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070064 141070064 + RNA SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr9:141070064G>A ENST00000503395.1 + 0 1144 TGGCAGGTACGTGCCCCGCGC 0.716000 4 118 0 0 1 0 0 FRMD1 79981 broad.mit.edu 37 6 168479586 168479586 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:168479586C>A ENST00000283309.6 - 1 253 c.189G>T c.(187-189)cgG>cgT p.R63R NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 63 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCAGTTGCTCCCGGCTGGGCA 0.697000 62 115 9.13743e-30 1.34777e-29 1 1 0 TRPV5 56302 broad.mit.edu 37 7 142622610 142622610 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:142622610C>T ENST00000442623.1 - 8 1399 c.1136G>A c.(1135-1137)aGa>aAa p.R379K TRPV5_ENST00000265310.1_Intron Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 0 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TCATCCCCTTCTGAGGAGAAT 0.542000 5 88 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183104901 183104901 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:183104901G>T ENST00000435564.1 - 3 534 c.334C>A c.(334-336)Cct>Act p.P112T PDE1A_ENST00000410103.1_Missense_Mutation_p.P112T|PDE1A_ENST00000409365.1_Missense_Mutation_p.P96T|PDE1A_ENST00000351439.5_Missense_Mutation_p.P96T|PDE1A_ENST00000346717.4_Missense_Mutation_p.P78T|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000536095.1_Missense_Mutation_p.P8T|PDE1A_ENST00000358139.2_Missense_Mutation_p.P112T|PDE1A_ENST00000456212.1_Missense_Mutation_p.P112T|PDE1A_ENST00000331935.6_Missense_Mutation_p.P112T NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 112 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TTTTCCTCAGGTTTCTTTTTT 0.423000 4 206 2.56e-06 2.78232e-06 1 1 0 USP15 9958 broad.mit.edu 37 12 62749183 62749183 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:62749183G>C ENST00000280377.5 + 8 900 c.842G>C c.(841-843)aGa>aCa p.R281T USP15_ENST00000393654.3_Missense_Mutation_p.R256T|USP15_ENST00000353364.3_Missense_Mutation_p.R252T NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 281 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GAACCTGGAAGAAACAATGAA 0.363000 21 65 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32639984 32639984 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:32639984C>T ENST00000421745.2 + 10 1759 c.1625C>T c.(1624-1626)cCt>cTt p.P542L NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 542 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GGGGCAAATCCTTGTTTAACA 0.388000 18 49 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105767340 105767340 + Missense_Mutation SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr9:105767340A>G ENST00000374798.3 + 5 497 c.427A>G c.(427-429)Aaa>Gaa p.K143E CYLC2_ENST00000487798.1_Missense_Mutation_p.K143E NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 143 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) agattcaaagaaaggcaagga 0.363000 21 51 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100774500 100774500 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:100774500G>C ENST00000323346.5 + 2 436 c.123G>C c.(121-123)gaG>gaC p.E41D SLC17A8_ENST00000392989.3_Missense_Mutation_p.E41D NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 41 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 GGACAACTGAGGAAGAAGATA 0.463000 77 265 0 0 1 0 0 CYGB 114757 broad.mit.edu 37 17 74533526 74533526 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:74533526C>A ENST00000293230.5 - 1 461 c.99G>T c.(97-99)cgG>cgT p.R33R CYGB_ENST00000589342.1_Silent_p.R33R|CYGB_ENST00000589145.1_Intron|PRCD_ENST00000592432.1_Intron NM_134268.4 NP_599030.1 Q8WWM9 CYGB_HUMAN cytoglobin 33 Globin. response to oxidative stress cytoplasm heme binding|oxygen binding|oxygen transporter activity|peroxidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1) 7 TGGCATAGAGCCGGGCCCACA 0.706000 20 60 8.34094e-07 9.13742e-07 1 1 0 POM121L12 285877 broad.mit.edu 37 7 53103862 53103862 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:53103862C>A ENST00000408890.4 + 1 514 c.498C>A c.(496-498)gcC>gcA p.A166A NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 166 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 gccccgccgcccAGGAGCTCC 0.726000 20 58 1.33834e-09 1.5185e-09 1 1 0 NFASC 23114 broad.mit.edu 37 1 204937426 204937426 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:204937426C>T ENST00000367172.4 + 9 1084 c.756C>T c.(754-756)acC>acT p.T252T NFASC_ENST00000367170.4_Silent_p.T252T|NFASC_ENST00000367171.4_Silent_p.T252T|NFASC_ENST00000401399.1_Silent_p.T252T|NFASC_ENST00000360049.4_Silent_p.T263T|NFASC_ENST00000367169.4_Silent_p.T252T|NFASC_ENST00000403080.1_Silent_p.T252T|NFASC_ENST00000339876.6_Silent_p.T252T|NFASC_ENST00000338515.6_Silent_p.T252T|NFASC_ENST00000539706.1_Silent_p.T263T|NFASC_ENST00000338586.6_Silent_p.T252T|NFASC_ENST00000513543.1_Silent_p.T263T|NFASC_ENST00000404076.1_Silent_p.T246T|NFASC_ENST00000404907.1_Silent_p.T263T O94856 NFASC_HUMAN neurofascin 252 Ig-like C2-type 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCCAGGGCACCGCGAGCAGCC 0.587000 33 321 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153586812 153586812 + Splice_Site SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chrX:153586812C>A ENST00000422373.1 - 27 4847 c.e27+1 FLNA_ENST00000344736.4_Splice_Site|FLNA_ENST00000369850.3_Splice_Site|FLNA_ENST00000360319.4_Splice_Site NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGCCTCTTACCTCCGGGGTA 0.577000 52 91 2.74695e-27 3.91204e-27 1 1 0 SLC2A10 81031 broad.mit.edu 37 20 45354608 45354608 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr20:45354608C>T ENST00000359271.2 + 2 1183 c.933C>T c.(931-933)gtC>gtT p.V311V NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 311 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) CCCTGTCCGTCAGTGGCATAG 0.657000 43 137 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768363 31768363 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:31768363C>T ENST00000240587.4 - 2 2663 c.2336G>A c.(2335-2337)cGc>cAc p.R779H NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 779 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GTAGAAATAGCGGTCGAGGTG 0.572000 6 116 0 0 1 0 0 PAG1 55824 broad.mit.edu 37 8 81897324 81897324 + Missense_Mutation SNP T T C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr8:81897324T>C ENST00000220597.4 - 7 1273 c.563A>G c.(562-564)aAg>aGg p.K188R NM_018440.3 NP_060910.3 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid microdomains 1 188 epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) AGCCACCTCCTTGATCTCTTT 0.547000 36 100 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29670389 29670389 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr12:29670389G>T ENST00000256062.5 - 14 2289 c.1816C>A c.(1816-1818)Cct>Act p.P606T TMTC1_ENST00000551659.1_Missense_Mutation_p.P776T|TMTC1_ENST00000552618.1_Missense_Mutation_p.P738T|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Missense_Mutation_p.P714T NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 714 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CTCTGAGAAGGCTGAAGTGCT 0.498000 53 156 3.48956e-15 4.38051e-15 1 1 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 194 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27719805 27719805 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:27719805G>C ENST00000264717.2 + 1 97 c.34G>C c.(34-36)Gag>Cag p.E12Q GCKR_ENST00000424318.2_5'UTR NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 12 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) ACATGTCATTGAGACCCCGGA 0.527000 3 112 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38956784 38956784 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:38956784G>T ENST00000355481.4 + 24 3055 c.2924G>T c.(2923-2925)cGg>cTg p.R975L RYR1_ENST00000360985.3_Missense_Mutation_p.R975L|RYR1_ENST00000359596.3_Missense_Mutation_p.R975L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 975 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCCACGTGCGGCTGACGCCG 0.647000 9 44 2.17888e-05 2.32526e-05 1 1 0 HOXA4 3201 broad.mit.edu 37 7 27169186 27169186 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:27169186G>C ENST00000360046.5 - 2 686 c.621C>G c.(619-621)aaC>aaG p.N207K HOXA3_ENST00000467897.2_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.N207K|HOXA-AS2_ENST00000521159.1_RNA NM_002141.4 NP_002132.3 Q00056 HXA4_HUMAN homeobox A4 207 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6) 12 TATAACTGGGGTTAACTGAAA 0.557000 32 78 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098792 11098792 + RNA SNP T T A rs80334250 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr21:11098792T>A ENST00000470054.1 - 0 133 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) acactccagctgcgctgccat 0.632000 15 287 0 0 1 0 0 CRIP2 1397 broad.mit.edu 37 14 105945514 105945514 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:105945514C>T ENST00000329146.4 + 6 1172 c.459C>T c.(457-459)tgC>tgT p.C153C CRIP2_ENST00000483017.3_Silent_p.C227C|CRIP2_ENST00000548989.1_3'UTR NM_001312.2 NP_001303.1 P52943 CRIP2_HUMAN cysteine-rich protein 2 153 LIM zinc-binding 2. zinc ion binding lung(2) 2 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.235) GCCTGCGCTGCGAGCGCTGCG 0.751000 27 47 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23523153 23523153 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr22:23523153G>T ENST00000305877.8 + 1 757 c.6G>T c.(4-6)gtG>gtT p.V2V BCR_ENST00000359540.3_Silent_p.V2V|BCR_ENST00000398512.5_Silent_p.V2V NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 2 Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GCGCCATGGTGGACCCGGTGG 0.791000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 5 8 0.0215528 0.0218169 1 1 0 AMELY 266 broad.mit.edu 37 Y 6736413 6736413 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chrY:6736413G>T ENST00000215479.5 - 5 305 c.238C>A c.(238-240)Ctg>Atg p.L80M AMELY_ENST00000383037.4_Missense_Mutation_p.L94M|AMELY_ENST00000383036.1_Missense_Mutation_p.L94M NM_001143.1 NP_001134.1 Q99218 AMELY_HUMAN amelogenin, Y-linked 94 biomineral tissue development proteinaceous extracellular matrix structural constituent of tooth enamel NS(1)|lung(5) 6 TGAGACTGCAGGGTGTGAGTC 0.587000 72 64 1.64915e-30 2.44122e-30 1 1 0 DMXL2 23312 broad.mit.edu 37 15 51860697 51860697 + Missense_Mutation SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr15:51860697T>A ENST00000251076.5 - 3 559 c.272A>T c.(271-273)cAt>cTt p.H91L DMXL2_ENST00000449909.3_Missense_Mutation_p.H91L|DMXL2_ENST00000543779.2_Missense_Mutation_p.H91L|DMXL2_ENST00000560421.1_5'UTR NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 91 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ATTTCTTTTATGAGAATTTAT 0.284000 9 29 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180046339 180046339 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:180046339G>T ENST00000261937.6 - 19 2753 c.2675C>A c.(2674-2676)gCg>gAg p.A892E FLT4_ENST00000393347.3_Missense_Mutation_p.A892E|FLT4_ENST00000502649.1_Missense_Mutation_p.A892E NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 892 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.A892V(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CGACATCAGCGCGCGGTGCTC 0.701000 22 78 7.76418e-22 1.05829e-21 1 1 0 NPAP1 23742 broad.mit.edu 37 15 24922555 24922555 + Missense_Mutation SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr15:24922555A>T ENST00000329468.2 + 1 2015 c.1541A>T c.(1540-1542)gAg>gTg p.E514V NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GTCACAAGGGAGTCCCCAATA 0.552000 149 437 0 0 1 0 0 CHST3 9469 broad.mit.edu 37 10 73767293 73767293 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr10:73767293C>T ENST00000373115.4 + 3 941 c.504C>T c.(502-504)atC>atT p.I168I NM_004273.4 NP_004264.2 Q7LGC8 CHST3_HUMAN carbohydrate (chondroitin 6) sulfotransferase 3 168 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity endometrium(1)|lung(5) 6 TGTGGCACATCGAGCGCACAG 0.657000 16 37 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 5 65 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76809405 76809405 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:76809405C>A ENST00000286719.7 - 6 850 c.494G>T c.(493-495)cGg>cTg p.R165L NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 165 Catalytic. 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) GGTTGAGACCCGGTTGATGTT 0.493000 13 164 1.48646e-12 1.7743e-12 1 1 0 FAM105A 54491 broad.mit.edu 37 5 14608879 14608879 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:14608879G>C ENST00000274217.3 + 7 770 c.650G>C c.(649-651)aGa>aCa p.R217T NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 217 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) AATGGCATTAGAGATTATCAC 0.313000 19 56 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389064 48389064 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr10:48389064G>T ENST00000224600.4 - 1 1927 c.1814C>A c.(1813-1815)gCc>gAc p.A605D NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 605 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) ACCCAGCCAGGCCTCGCCGTG 0.672000 21 139 1.64293e-13 1.98983e-13 1 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140720584 140720584 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:140720584C>A ENST00000394576.2 + 1 2046 c.2046C>A c.(2044-2046)gcC>gcA p.A682A PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCCTCCGCCATACCCAACG 0.682000 163 346 1.02705e-64 1.63772e-64 1 1 0 SPEF2 79925 broad.mit.edu 37 5 35659120 35659120 + Splice_Site SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:35659120G>A ENST00000440995.2 + 8 978 c.e8-1 SPEF2_ENST00000509059.1_Splice_Site|SPEF2_ENST00000282469.6_Splice_Site|SPEF2_ENST00000356031.3_Splice_Site Q9C093 SPEF2_HUMAN sperm flagellar 2 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGTGTTTTCAGGAGGCTTATC 0.483000 15 56 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56586643 56586643 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr18:56586643G>T ENST00000336078.4 + 4 1900 c.1124G>T c.(1123-1125)aGa>aTa p.R375I ZNF532_ENST00000591808.1_Missense_Mutation_p.R375I|ZNF532_ENST00000591083.1_Missense_Mutation_p.R375I|ZNF532_ENST00000589288.1_Missense_Mutation_p.R375I|ZNF532_ENST00000591230.1_Missense_Mutation_p.R375I NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 GAAATCAAGAGAACAGTGACC 0.522000 36 112 2.1956e-27 3.14855e-27 1 1 0 VWA3A 146177 broad.mit.edu 37 16 22143018 22143018 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:22143018C>A ENST00000389398.5 + 19 1936 c.1840C>A c.(1840-1842)Ctc>Atc p.L614I VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 614 VWFA 1. extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) GGGAATCTACCTCTTCACTGG 0.587000 12 48 3.07112e-06 3.32906e-06 1 1 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 5 257 0 0 1 0 0 HAT1 8520 broad.mit.edu 37 2 172822364 172822364 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:172822364G>C ENST00000264108.4 + 6 582 c.546G>C c.(544-546)ttG>ttC p.L182F HAT1_ENST00000392584.1_Missense_Mutation_p.L97F|SLC25A12_ENST00000472748.1_Intron NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 182 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19 OV - Ovarian serous cystadenocarcinoma(117;0.216) AGACCTTTTTGATGTGGTTTA 0.393000 63 219 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124763783 124763783 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:124763783G>A ENST00000306534.3 - 9 1962 c.1477C>T c.(1477-1479)Cgc>Tgc p.R493C ROBO4_ENST00000533054.1_Missense_Mutation_p.R348C NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 493 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CTAGCTCGGCGCCGGCGGTGG 0.642000 4 32 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207748949 207748949 + Silent SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:207748949C>G ENST00000367049.4 + 28 4461 c.4461C>G c.(4459-4461)ctC>ctG p.L1487L RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Silent_p.L1037L|CR1_ENST00000367053.1_Silent_p.L1037L|CR1_ENST00000367051.1_Silent_p.L1037L|CR1_ENST00000400960.2_Silent_p.L1037L|RP11-78B10.2_ENST00000596003.1_RNA NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1037 Sushi 23. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GGCACCGACTCATTGGTCACT 0.443000 24 785 0 0 1 0 0 FIG4 9896 broad.mit.edu 37 6 110048374 110048374 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:110048374G>T ENST00000230124.3 + 4 476 c.352G>T c.(352-354)Gat>Tat p.D118Y FIG4_ENST00000368941.1_Missense_Mutation_p.D41Y|FIG4_ENST00000441478.2_Intron NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 118 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GAAGATGGCGGATATTGGAGG 0.338000 17 171 2.94398e-08 3.27726e-08 1 1 0 MUC13 56667 broad.mit.edu 37 3 124632460 124632460 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:124632460C>A ENST00000311075.3 - 7 1068 c.1030G>T c.(1030-1032)Gat>Tat p.D344Y NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 344 EGF-like 2. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GATTTGCAATCGCATGCTAAA 0.423000 44 114 1.15505e-17 1.5144e-17 1 1 0 NUDT19 390916 broad.mit.edu 37 19 33202801 33202801 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:33202801G>T ENST00000397061.3 + 3 1066 c.1066G>T c.(1066-1068)Gtt>Ttt p.V356F NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 356 mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) CCACGTGACTGTTCAGCCAAA 0.393000 74 184 2.35699e-46 3.61872e-46 1 1 0 PLEKHH1 57475 broad.mit.edu 37 14 68029323 68029323 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:68029323C>T ENST00000329153.5 + 7 1107 c.975C>T c.(973-975)atC>atT p.I325I NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 325 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) GGGACAGCATCCAGTTGGCCA 0.637000 7 48 0 0 1 0 0 LPPR5 163404 broad.mit.edu 37 1 99470069 99470069 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:99470069G>T ENST00000370188.3 - 1 519 c.159C>A c.(157-159)ccC>ccA p.P53P LPPR5_ENST00000263177.4_Silent_p.P53P|RP5-896L10.1_ENST00000425113.1_RNA NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 53 integral to membrane hydrolase activity GGCCCGGGTAGGGTTTGCGGT 0.687000 9 142 0.000442599 0.000465124 1 1 0 WDR72 256764 broad.mit.edu 37 15 53992106 53992106 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr15:53992106C>A ENST00000396328.1 - 13 1845 c.1606G>T c.(1606-1608)Gac>Tac p.D536Y WDR72_ENST00000557913.1_Missense_Mutation_p.D533Y|WDR72_ENST00000559418.1_Missense_Mutation_p.D546Y|WDR72_ENST00000360509.5_Missense_Mutation_p.D536Y NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 536 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) ACGGAATGGTCACCGCACACA 0.453000 71 167 1.52808e-22 2.10366e-22 1 1 0 SH2D5 400745 broad.mit.edu 37 1 21050138 21050138 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:21050138C>A ENST00000375031.1 - 7 1261 c.637G>T c.(637-639)Gcc>Tcc p.A213S SH2D5_ENST00000444387.2_Missense_Mutation_p.A297S|SH2D5_ENST00000460804.1_5'UTR NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 213 SH2. lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCAGCGAAGGCCCAGATGTTC 0.672000 12 41 9.31168e-06 1.00149e-05 1 1 0 MACF1 23499 broad.mit.edu 37 1 39750872 39750872 + Missense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:39750872G>T ENST00000564288.1 + 12 2026 c.1249G>T c.(1249-1251)Gct>Tct p.A417S MACF1_ENST00000317713.7_Missense_Mutation_p.A422S|MACF1_ENST00000545844.1_Missense_Mutation_p.A422S|MACF1_ENST00000567887.1_Missense_Mutation_p.A454S|MACF1_ENST00000539005.1_Missense_Mutation_p.A422S|MACF1_ENST00000361689.2_Missense_Mutation_p.A422S|MACF1_ENST00000372915.3_Missense_Mutation_p.A422S Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 422 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACTTCGGCCGGCTGTGGAGAG 0.463000 33 90 6.53348e-20 8.7608e-20 1 1 0 KCNN3 3782 broad.mit.edu 37 1 154744782 154744782 + Missense_Mutation SNP A A T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:154744782A>T ENST00000271915.3 - 3 1432 c.1117T>A c.(1117-1119)Tgc>Agc p.C373S KCNN3_ENST00000358505.2_Missense_Mutation_p.C60S|KCNN3_ENST00000361147.4_Missense_Mutation_p.C68S NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 378 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TGGATGGCGCACACCAGCATC 0.607000 56 61 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 33733757 33733757 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr22:33733757G>T ENST00000354992.2 - 11 1733 c.1162C>A c.(1162-1164)Cgg>Agg p.R388R LARGE_ENST00000337431.2_Intron|LARGE_ENST00000397394.2_Silent_p.R388R|LARGE_ENST00000402320.1_Intron|LARGE_ENST00000452586.2_Silent_p.R187R|LARGE_ENST00000437602.2_Silent_p.R388R NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 388 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) TTCTTCACCCGGAGCTTCTTG 0.557000 14 64 8.60227e-14 1.05423e-13 1 1 0 LLGL2 3993 broad.mit.edu 37 17 73569700 73569700 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:73569700C>G ENST00000392550.3 + 21 2981 c.2864C>G c.(2863-2865)cCg>cGg p.P955R LLGL2_ENST00000577200.1_Missense_Mutation_p.P955R|LLGL2_ENST00000167462.5_Missense_Mutation_p.P955R NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 955 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AAGAAGGCCCCGAGCCGAGCC 0.667000 7 54 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126240570 126240570 + Nonsense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:126240570G>T ENST00000394329.3 + 1 3017 c.3004G>T c.(3004-3006)Gaa>Taa p.E1002* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1002 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACTCTCTTATGAAGTCACCCT 0.403000 72 163 3.54697e-40 5.42555e-40 1 1 0 PXDNL 137902 broad.mit.edu 37 8 52320747 52320747 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr8:52320747C>A ENST00000356297.4 - 17 3537 c.3437G>T c.(3436-3438)aGa>aTa p.R1146I PXDNL_ENST00000543296.1_Missense_Mutation_p.R1146I NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1146 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCCGTGGTCTCTACCCCTTTG 0.478000 36 231 1.59932e-28 2.32578e-28 1 1 0 PKD2 5311 broad.mit.edu 37 4 88996617 88996617 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:88996617G>A ENST00000237596.2 + 15 2744 c.2678G>A c.(2677-2679)aGg>aAg p.R893K PKD2_ENST00000508588.1_Missense_Mutation_p.R311K|PKD2_ENST00000502363.1_Missense_Mutation_p.R311K|PKD2_ENST00000511337.1_3'UTR NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 893 C-terminal coiled coil domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) TAGGATGAAAGGCTGGGTCGT 0.478000 137 452 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242066203 242066203 + Silent SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:242066203C>A ENST00000403638.3 - 10 2218 c.2127G>T c.(2125-2127)acG>acT p.T709T PASK_ENST00000234040.4_Silent_p.T709T|PASK_ENST00000405260.1_Silent_p.T709T|PASK_ENST00000358649.4_Silent_p.T709T|PASK_ENST00000544142.1_Silent_p.T523T|PASK_ENST00000539818.1_Silent_p.T493T NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 709 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) AGGAGCTGCCCGTGCAGCCAC 0.637000 59 144 2.5401e-28 3.68091e-28 1 1 0 TECRL 253017 broad.mit.edu 37 4 65147201 65147201 + Nonsense_Mutation SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:65147201G>T ENST00000381210.3 - 10 1019 c.909C>A c.(907-909)taC>taA p.Y303* TECRL_ENST00000507440.1_Nonsense_Mutation_p.Y303* NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 303 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CCTCATAGGTGTAGTTAGGAC 0.303000 19 63 3.99206e-14 4.9069e-14 1 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140731379 140731379 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:140731379C>A ENST00000523390.1 + 1 1552 c.1552C>A c.(1552-1554)Cac>Aac p.H518N PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCTTCGACCACGAGCAGCT 0.687000 53 142 1.17673e-23 1.64185e-23 1 1 0 OR9G1 390174 broad.mit.edu 37 11 56468356 56468356 + Missense_Mutation SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:56468356T>A ENST00000312153.1 + 1 493 c.493T>A c.(493-495)Ttt>Att p.F165I NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 AACGTTTTCCTTTAACTTCTG 0.438000 34 186 0 0 1 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135254133 135254133 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:135254133G>T ENST00000265605.2 - 5 698 c.630C>A c.(628-630)acC>acA p.T210T ALDH8A1_ENST00000367847.2_Silent_p.T160T|ALDH8A1_ENST00000367845.2_Silent_p.T210T NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 210 retinal metabolic process cytoplasm retinal dehydrogenase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CCCTGGGCCCGGTTCCAAACA 0.552000 18 39 6.49762e-13 7.77831e-13 1 1 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 8 126 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 8 263 --- --- --- --- RASAL2 9462 broad.mit.edu 37 1 178412244 178412245 + Frame_Shift_Ins INS - - T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:178412244_178412245insT ENST00000448150.3 + 8 2126_2127 c.1308_1309insT c.(1306-1311)gattgtfs p.C437fs RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.C455fs|RASAL2_ENST00000462775.1_Frame_Shift_Ins_p.C307fs NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 307 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 AATTTGCAGAATTTGTCACCAG 0.421 164 124 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 14 416 --- --- --- --- RGS18 64407 broad.mit.edu 37 1 192150520 192150520 + Frame_Shift_Del DEL C C - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:192150520delC ENST00000367460.3 + 4 563 c.382delC c.(382-384)ctfs p.P128fs NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 128 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AAGCAAGGGACCTCAACAAAT 0.328 34 140 --- --- --- --- CAMSAP2 23271 broad.mit.edu 37 1 200822548 200822549 + Frame_Shift_Ins INS - - A rs11553541 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr1:200822548_200822549insA ENST00000358823.2 + 13 4018_4019 c.3748_3749insA c.(3748-3750)aaafs p.K1250fs CAMSAP2_ENST00000236925.4_Frame_Shift_Ins_p.K1261fs|CAMSAP2_ENST00000413307.2_Frame_Shift_Ins_p.K1234fs NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 1261 cytoplasm|microtubule protein binding AGTAGTAAAACAAAAAAAACAG 0.366 9 305 --- --- --- --- COL5A2 1290 broad.mit.edu 37 2 189943835 189943836 + Splice_Site INS - - A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:189943835_189943836insA ENST00000374866.3 - 15 1235 c.e15-2 NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) AGCTTCACCCTAAAAAAAAATG 0.381 7 196 --- --- --- --- ALPP 250 broad.mit.edu 37 2 233243529 233243531 + In_Frame_Del DEL TGC TGC - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:233243529_233243531delTGC ENST00000392027.2 + 1 286_288 c.17_19delTGC c.(16-21)atg>a p.ML6del NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 6 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGGCCCTGCAtgctgctgctgct 0.616 9 165 --- --- --- --- KIF1A 547 broad.mit.edu 37 2 241705162 241705163 + Frame_Shift_Ins INS - - A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:241705162_241705163insA ENST00000498729.2 - 20 1978_1979 c.1732_1733insT c.(1732-1734)caafs p.Q578fs KIF1A_ENST00000320389.7_Frame_Shift_Ins_p.Q569fs NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 569 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GACTTTCTTGCCATTGACGTAG 0.609 13 83 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 8 173 --- --- --- --- ZXDC 79364 broad.mit.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr3:126178522delT ENST00000389709.3 - 7 2239 c.2186delA c.(2185-2187)agfs p.K729fs NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 729 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) TCCTCTCTGCTTTTTTTCCTT 0.522 7 1038 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 7 150 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950742 79950750 + In_Frame_Del DEL CCCCCAGCT CCCCCAGCT - rs3045983 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr5:79950742_79950750delCCCCCAGCT ENST00000265081.6 + 1 276_284 c.196_204delCCCCCAGCT c.(196-204)del p.PPA66del DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 66 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) gCCCCCAGCGCCCCCAGCTCCCGCCTTCC 0.732 Mismatch excision repair (MMR) 4 2 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32523273 32523274 + RNA DEL GA GA - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr6:32523273_32523274delGA ENST00000411500.1 - 0 458 NR_001298.1 ATTCCACTGTGAGAGGGCTCAT 0.396 13 42 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149499116 149499117 + RNA DEL AT AT - rs61047652 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr7:149499116_149499117delAT ENST00000378016.2 + 0 7495 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCGGCCCCCATGCCCCTGCAG 0.703 10 16 --- --- --- --- FAM66D 100132923 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 13 153 --- --- --- --- AGPAT6 137964 broad.mit.edu 37 8 41456690 41456690 + Frame_Shift_Del DEL T T - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr8:41456690delT ENST00000396987.3 + 2 959 c.32delT c.(31-33)atfs p.I11fs NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 11 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) GATAGCCTGATTGTCAACCTT 0.507 8 522 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124361527 124361528 + Frame_Shift_Ins INS - - TT TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr8:124361527_124361528insTT ENST00000287394.5 - 14 1910_1911 c.1803_1804insAA c.(1801-1806)aaaggcfs p.G602fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 602 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ATTCTTACCTCTTTATCAGGCA 0.347 44 114 --- --- --- --- DFNB31 25861 broad.mit.edu 37 9 117168754 117168754 + Frame_Shift_Del DEL G G - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr9:117168754delG ENST00000362057.3 - 9 2285 c.2117delC c.(2116-2118)cafs p.P706fs DFNB31_ENST00000374059.3_Frame_Shift_Del_p.P355fs|DFNB31_ENST00000265134.6_Frame_Shift_Del_p.P323fs NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 706 Pro-rich. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGAGGGTGATGGGGGCAGAAG 0.642 46 165 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 8 165 --- --- --- --- ARHGAP22 58504 broad.mit.edu 37 10 49687670 49687670 + Frame_Shift_Del DEL G G - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr10:49687670delG ENST00000374172.1 - 3 339 c.85delC c.(85-87)gtfs p.R30fs ARHGAP22_ENST00000417912.2_Frame_Shift_Del_p.R155fs|ARHGAP22_ENST00000417247.2_Intron|ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000249601.4_Intron|ARHGAP22_ENST00000435790.2_Intron Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 151 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TGCGATCTACGGGCAGTACCT 0.652 35 82 --- --- --- --- RP11-170M17.1 0 broad.mit.edu 37 10 65662624 65662624 + RNA DEL G G - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr10:65662624delG ENST00000444770.1 + 0 494 GTCTCTTGGTGGGGGCGTCCC 0.557 7 23 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 8 202 --- --- --- --- FAM124A 220108 broad.mit.edu 37 13 51825780 51825780 + Frame_Shift_Del DEL C C - rs75220697 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr13:51825780delC ENST00000322475.8 + 3 412 c.277delC c.(277-279)ccfs p.P94fs FAM124A_ENST00000280057.6_Frame_Shift_Del_p.P130fs NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 94 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) GCGGCGGAAGCCCCCCAAGGG 0.706 7 14 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 10 223 --- --- --- --- CDH8 1006 broad.mit.edu 37 16 61687592 61687592 + Frame_Shift_Del DEL C C - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr16:61687592delC ENST00000577390.1 - 12 3274 c.2320delG c.(2320-2322)acfs p.D774fs CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 774 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTGAGGTAGTCAAAATTCTGG 0.473 53 121 --- --- --- --- TRAF4 9618 broad.mit.edu 37 17 27075644 27075647 + Frame_Shift_Del DEL TGGT TGGT - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:27075644_27075647delTGGT ENST00000262395.5 + 6 869_872 c.740_743delTGGT c.(739-744)cgfs p.LV247fs TRAF4_ENST00000444415.3_Frame_Shift_Del_p.LV247fs|TRAF4_ENST00000262396.6_Intron NM_004295.3 NP_004286.2 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 247 apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) AACACCGCCCTGGTGCTCTGCCCA 0.608 20 68 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56386383 56386384 + Frame_Shift_Ins INS - - T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr17:56386383_56386384insT ENST00000355701.3 - 22 5119_5120 c.4249_4250insA c.(4249-4251)ccgfs p.P1417fs BZRAP1_ENST00000268893.6_Frame_Shift_Ins_p.P1357fs|BZRAP1_ENST00000343736.4_Frame_Shift_Ins_p.P1417fs NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 127 262 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 7 130 --- --- --- --- CD177 57126 broad.mit.edu 37 19 43858524 43858524 + RNA DEL G G - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:43858524delG ENST00000378009.4 + 0 401 CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CTCCCGCTTTGGGCCCCACAG 0.657 48 134 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 11 361 --- --- --- --- LILRB1 10859 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 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) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 7 122 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61537401 61537402 + Frame_Shift_Ins INS - - T rs140153728 TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 946d7c17-af72-4f34-8c3c-a9b3637e1b35 cb684d88-2465-4cef-883c-2b2aef431f20 g.chr20:61537401_61537402insT ENST00000266070.4 - 6 1750_1751 c.1425_1426insA c.(1423-1428)aaagacfs p.D476fs DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 476 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACTGTGGTCTCTTTTTTTTCTG 0.490 7 311 --- --- --- ---