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 CSGALNACT2 55454 broad.mit.edu 37 10 43654323 43654323 + Silent SNP C C A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr10:43654323C>A ENST00000374466.3 + 3 1157 c.822C>A c.(820-822)atC>atA p.I274I CSGALNACT2_ENST00000374464.1_Silent_p.I274I NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 274 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TTATTAATATCATTGTGCCAC 0.378000 3 57 0.00909568 0.00909568 1 1 0 DCC 1630 broad.mit.edu 37 18 50734133 50734133 + Missense_Mutation SNP C C T TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr18:50734133C>T ENST00000442544.2 + 11 2423 c.1807C>T c.(1807-1809)Cgc>Tgc p.R603C DCC_ENST00000412726.1_Missense_Mutation_p.R451C|DCC_ENST00000581580.1_Missense_Mutation_p.R258C NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 603 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.R603C(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCTTATAATCGCTATGGTCC 0.353000 39 78 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167891808 167891808 + Silent SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr5:167891808G>A ENST00000265293.4 + 21 3493 c.2991G>A c.(2989-2991)gcG>gcA p.A997A WWC1_ENST00000521089.1_Silent_p.A1003A|WWC1_ENST00000522140.1_3'UTR NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 997 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ACCTGCAGGCGACAAGAACCT 0.612000 22 41 0 0 1 0 0 TCP11L1 55346 broad.mit.edu 37 11 33087532 33087532 + Missense_Mutation SNP A A G TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr11:33087532A>G ENST00000334274.4 + 8 1529 c.1129A>G c.(1129-1131)Att>Gtt p.I377V TCP11L1_ENST00000531632.2_Missense_Mutation_p.I377V|TCP11L1_ENST00000324357.9_Missense_Mutation_p.I156V|TCP11L1_ENST00000432887.1_Missense_Mutation_p.I377V NM_018393.3 NP_060863.3 Q9NUJ3 T11L1_HUMAN t-complex 11, testis-specific-like 1 377 kidney(1)|liver(2)|lung(2)|skin(1) 6 GATTGTGAAGATTTTGCTAAC 0.542000 OREG0020866 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 143 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76128981 76128981 + Silent SNP C C T TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr5:76128981C>T ENST00000296677.4 + 2 755 c.549C>T c.(547-549)caC>caT p.H183H NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 183 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) CCATGGGGCACTCCAGGAAGA 0.488000 7 141 0 0 1 0 0 PGAP3 93210 broad.mit.edu 37 17 37842227 37842227 + Missense_Mutation SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr17:37842227G>A ENST00000300658.4 - 2 319 c.227C>T c.(226-228)aCc>aTc p.T76I PGAP3_ENST00000429199.2_Missense_Mutation_p.T76I|PGAP3_ENST00000579146.1_Missense_Mutation_p.T76I|PGAP3_ENST00000378011.4_Missense_Mutation_p.T76I NM_033419.3 NP_219487.3 Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 76 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 GAGCCCAACGGTGACCCACAT 0.537000 3 57 0 0 1 0 0 GPN1 11321 broad.mit.edu 37 2 27861816 27861816 + Missense_Mutation SNP C C A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr2:27861816C>A ENST00000264718.3 + 9 698 c.677C>A c.(676-678)gCc>gAc p.A226D GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.A117D|GPN1_ENST00000407583.3_Missense_Mutation_p.A200D|GPN1_ENST00000515877.1_Missense_Mutation_p.A133D|GPN1_ENST00000503738.1_Missense_Mutation_p.A117D|GPN1_ENST00000424214.1_Missense_Mutation_p.A133D NM_007266.3 NP_009197.2 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 212 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|large_intestine(1)|lung(12) 14 TTCCAAGATGCCTTGAATCAA 0.443000 5 67 0.000602214 0.000649758 1 1 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 44 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97202876 97202876 + Missense_Mutation SNP A A T TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr3:97202876A>T ENST00000389672.5 + 10 2211 c.2173A>T c.(2173-2175)Att>Ttt p.I725F EPHA6_ENST00000442602.2_Missense_Mutation_p.I91F|EPHA6_ENST00000514100.1_Missense_Mutation_p.I117F|EPHA6_ENST00000502694.1_Missense_Mutation_p.I117F NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 630 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TCCCTCAAGAATTCGTATTGA 0.378000 10 17 0 0 1 0 0 KRTAP3-3 85293 broad.mit.edu 37 17 39150166 39150166 + Missense_Mutation SNP C C T rs146610892 byFrequency TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr17:39150166C>T ENST00000391586.1 - 1 219 c.184G>A c.(184-186)Gtg>Atg p.V62M NM_033185.2 NP_149441.1 Q9BYR6 KRA33_HUMAN keratin associated protein 3-3 62 keratin filament structural molecule activity p.V62M(1) lung(2)|prostate(2) 4 Breast(137;0.00043) CAGGTGGGCACGCAGGGCTGA 0.632000 41 46 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399157 179399157 + Missense_Mutation SNP A A G TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr2:179399157A>G ENST00000589042.1 - 358 102409 c.102185T>C c.(102184-102186)aTg>aCg p.M34062T TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M25122T|TTN_ENST00000342992.6_Missense_Mutation_p.M31494T|TTN_ENST00000342175.6_Missense_Mutation_p.M25189T|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M32421T|TTN_ENST00000460472.2_Missense_Mutation_p.M24997T|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32421 Ig-like 151. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGATGCTGTCATGCGAGATTT 0.418000 43 67 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110882663 110882663 + Missense_Mutation SNP C C G TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr1:110882663C>G ENST00000369784.3 + 1 1536 c.636C>G c.(634-636)agC>agG p.S212R RBM15_ENST00000487146.2_Missense_Mutation_p.S212R|RBM15_ENST00000602849.1_Missense_Mutation_p.S212R NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 212 RRM 1. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GTTCTGGCAGCGGGGATGAGC 0.602000 T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 38 0 0 1 0 0 PRSS57 400668 broad.mit.edu 37 19 687034 687034 + Missense_Mutation SNP T T C TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr19:687034T>C ENST00000329267.7 - 4 565 c.536A>G c.(535-537)aAg>aGg p.K179R NM_214710.3 NP_999875.1 Q6UWY2 PRS57_HUMAN protease, serine, 57 179 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|lung(5) 6 CACTCGGACCTTGGCCTCCAT 0.672000 9 29 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104879560 104879560 + Missense_Mutation SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr11:104879560G>A ENST00000393141.2 - 2 225 c.194C>T c.(193-195)aCg>aTg p.T65M CASP5_ENST00000393139.2_Missense_Mutation_p.T19M|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Missense_Mutation_p.T65M|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000260315.3_Missense_Mutation_p.T52M NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 52 CARD. apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) CTTTTGATCCGTATTAGGTAC 0.373000 6 66 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 48036187 48036187 + Missense_Mutation SNP C C A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr6:48036187C>A ENST00000543600.1 - 1 193 c.154G>T c.(154-156)Gac>Tac p.D52Y PTCHD4_ENST00000339488.4_Missense_Mutation_p.D69Y Q6ZW05 CF138_HUMAN patched domain containing 4 69 integral to membrane hedgehog receptor activity CGCTCCAGGTCGCCCTCGGGC 0.652000 3 37 0.004672 0.0047888 1 1 0 COL5A1 1289 broad.mit.edu 37 9 137655578 137655578 + Nonsense_Mutation SNP G G T TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr9:137655578G>T ENST00000371817.3 + 20 2443 c.2029G>T c.(2029-2031)Gag>Tag p.E677* NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 677 Triple-helical region. E -> K (in Ref. 1; BAA14323).|E -> Q (in Ref. 4; AA sequence). axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCTGCCTGGGGAGCCCGTAAG 0.592000 4 81 1.23904e-05 1.41113e-05 1 1 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 4 150 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 6 121 0 0 1 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48789079 48789079 + Missense_Mutation SNP T T C TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr3:48789079T>C ENST00000265563.8 - 11 1403 c.1154A>G c.(1153-1155)tAt>tGt p.Y385C PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Y385C|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Y363C NM_004157.2 NP_004148.1 P13861 KAP2_HUMAN protein kinase, cAMP-dependent, regulatory, type II, alpha 385 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) CTGTTCCTCATAGTGTGAGAT 0.512000 11 20 0 0 1 0 0 ST6GALNAC6 30815 broad.mit.edu 37 9 130658585 130658585 + Missense_Mutation SNP C C T TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr9:130658585C>T ENST00000373146.1 - 3 232 c.53G>A c.(52-54)gGg>gAg p.G18E ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_5'UTR|ST6GALNAC6_ENST00000373141.1_5'UTR|ST6GALNAC6_ENST00000373144.3_5'UTR|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.G18E|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.G18E Q969X2 SIA7F_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 18 protein glycosylation integral to Golgi membrane|plasma membrane endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TGCAGGTGGCCCTGGGGGCAG 0.552000 42 67 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34059809 34059809 + Missense_Mutation SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr6:34059809G>A ENST00000374181.3 - 2 756 c.587C>T c.(586-588)tCc>tTc p.S196F GRM4_ENST00000455714.2_Missense_Mutation_p.S56F|GRM4_ENST00000538487.1_Missense_Mutation_p.S196F|GRM4_ENST00000544773.1_Missense_Mutation_p.S27F|GRM4_ENST00000374177.3_Missense_Mutation_p.S127F|GRM4_ENST00000535756.1_Missense_Mutation_p.S63F NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 196 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CACCACGCGGGAGAAGAAGTC 0.642000 21 73 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685167 100685167 + Silent SNP C C T TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr7:100685167C>T ENST00000306151.4 + 3 10534 c.10470C>T c.(10468-10470)acC>acT p.T3490T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3490 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTGTGACCACTTCTTCTC 0.488000 143 202 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64966384 64966384 + Missense_Mutation SNP C C A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr15:64966384C>A ENST00000326648.3 + 4 1459 c.1331C>A c.(1330-1332)cCc>cAc p.P444H ZNF609_ENST00000559364.1_3'UTR NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 444 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAAAACAAACCCCTTTCAGAC 0.562000 3 74 0.004672 0.0047888 1 1 0 MT-CYB 4519 broad.mit.edu 37 MT 15003 15003 + Missense_Mutation SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chrM:15003G>A ENST00000361789.2 + 1 257 c.257G>A c.(256-258)gGc>gAc p.86_86insD mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 TCACGCCAATGGCGCCTCAAT 0.473000 65 48 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31760609 31760609 + Missense_Mutation SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr6:31760609G>A ENST00000375663.3 - 4 1026 c.586C>T c.(586-588)Cgg>Tgg p.R196W VARS_ENST00000444930.2_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 196 GST C-terminal. translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) TCTGGCTGCCGGACACACGTG 0.557000 3 53 0 0 1 0 0 ZNF92 168374 broad.mit.edu 37 7 64863789 64863789 + Silent SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr7:64863789G>A ENST00000328747.7 + 4 961 c.762G>A c.(760-762)gaG>gaA p.E254E ZNF92_ENST00000450302.2_Silent_p.E185E|ZNF92_ENST00000357512.2_Silent_p.E222E|ZNF92_ENST00000431504.1_Silent_p.E178E NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 254 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) ATACTGGAGAGAAACCCTACA 0.353000 3 39 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 4 206 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 3090 3090 + RNA SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chrM:3090G>A ENST00000387347.2 + 0 1420 NR_039705.1 CGGAGTAATCCAGGTCGGTTT 0.458000 43 92 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 43 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120797832 120797832 + Missense_Mutation SNP G G C TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr10:120797832G>C ENST00000369144.3 - 20 3773 c.3646C>G c.(3646-3648)Cgg>Ggg p.R1216G EIF3A_ENST00000541549.1_Missense_Mutation_p.R1182G|EIF3A_ENST00000478852.1_Intron NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1216 Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) ttctcctcccgatcttgatta 0.483000 3 82 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85345382 85345382 + Missense_Mutation SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr15:85345382G>A ENST00000299927.3 + 8 3584 c.3562G>A c.(3562-3564)Gag>Aag p.E1188K ZNF592_ENST00000560079.2_Missense_Mutation_p.E1188K Q92610 ZN592_HUMAN zinc finger protein 592 1188 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) ggaggaagaggaggCGGCGGC 0.607000 7 13 0 0 1 0 0 FEZ1 9638 broad.mit.edu 37 11 125359608 125359608 + Silent SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr11:125359608G>A ENST00000278919.3 - 2 300 c.66C>T c.(64-66)gaC>gaT p.D22D FEZ1_ENST00000366139.3_Silent_p.D22D|FEZ1_ENST00000524435.1_Silent_p.D22D NM_005103.4 NP_005094.1 Q99689 FEZ1_HUMAN fasciculation and elongation protein zeta 1 (zygin I) 22 axon guidance|cell adhesion|transport microtubule|plasma membrane breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) TCTCCTCCGGGTCCTCCGAGC 0.542000 44 71 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64812733 64812733 + Silent SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr12:64812733G>A ENST00000332707.5 + 6 877 c.348G>A c.(346-348)gaG>gaA p.E116E NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 116 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.E116E(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TTGTTACAGAGTATCTCACTA 0.438000 3 57 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3901 3901 + Missense_Mutation SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chrM:3901G>A ENST00000361390.2 + 1 595 c.595G>A c.(595-597)Gac>Aac p.199_199insN mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 GAACCCCCTTCGACCTTGCCG 0.488000 7 126 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64812728 64812728 + Missense_Mutation SNP A A G TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr12:64812728A>G ENST00000332707.5 + 6 872 c.343A>G c.(343-345)Aca>Gca p.T115A NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 115 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.T115A(2) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GCTTTTTGTTACAGAGTATCT 0.433000 3 55 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101198093 101198093 + Missense_Mutation SNP C C A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr1:101198093C>A ENST00000294728.2 + 7 1746 c.1645C>A c.(1645-1647)Cag>Aag p.Q549K VCAM1_ENST00000370119.4_Missense_Mutation_p.Q487K|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q457K|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q350K NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 549 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.Q549K(1) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GTGGAGCAGGCAGCTCCCTAA 0.483000 17 21 3.52763e-06 4.13237e-06 1 1 0 TNFRSF9 3604 broad.mit.edu 37 1 7980912 7980914 + In_Frame_Del DEL CTT CTT - TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr1:7980912_7980914delCTT ENST00000377507.3 - 8 915_917 c.749_751delAAG c.(748-753)gga>g p.EG250del NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 250 Interaction with LRR-1. E -> G (in a colorectal cancer sample; somatic mutation). induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity p.E250G(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) TCACATCCTCCTTCTTCTTCTTC 0.379 7 132 --- --- --- --- ALMS1 7840 broad.mit.edu 37 2 73613087 73613089 + In_Frame_Del DEL GCG GCG - rs13009609 TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr2:73613087_73613089delGCG ENST00000264448.6 + 1 202_204 c.91_93delGCG c.(91-93)del p.A35del ALMS1_ENST00000409009.1_In_Frame_Del_p.A35del|ALMS1_ENST00000377715.1_In_Frame_Del_p.A35del NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 35 Glu-rich. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ggaggCTGCAGCGGCGGCGGCGG 0.675 2 4 --- --- --- --- CTC-535M15.2 0 broad.mit.edu 37 5 165097024 165097025 + RNA DEL AC AC - TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr5:165097024_165097025delAC ENST00000522189.1 + 0 21 cccacccccgacacacacacag 0.540 2 4 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 7 16 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65222951 65222951 + RNA DEL T T - TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr7:65222951delT ENST00000442266.1 + 0 561 TTTCTGTAACTTTTTTTTTTT 0.323 2 4 --- --- --- --- POLE2 5427 broad.mit.edu 37 14 50131361 50131366 + In_Frame_Del DEL CATGCC CATGCC - TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr14:50131361_50131366delCATGCC ENST00000539565.2 - 8 800_805 c.582_587delGGCATG c.(580-588)gac>ga p.EAC194del POLE2_ENST00000216367.5_In_Frame_Del_p.EAC220del|POLE2_ENST00000554396.1_In_Frame_Del_p.EAC220del|POLE2_ENST00000556584.1_5'UTR NM_001197330.1 NP_001184259.1 P56282 DPOE2_HUMAN polymerase (DNA directed), epsilon 2, accessory subunit 220 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) TAAGACAAAGCATGCCTCTGTGTATA 0.350 15 106 --- --- --- --- MYO9B 4650 broad.mit.edu 37 19 17294679 17294680 + Splice_Site INS - - A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr19:17294679_17294680insA ENST00000595618.1 + 16 2525 c.e16+2 MYO9B_ENST00000594824.1_Splice_Site|MYO9B_ENST00000397274.2_Splice_Site NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity p.?(2) breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 ATTCCAAAGGTAAAAAAAAAAA 0.411 3 3 --- --- --- --- AP003900.6 0 broad.mit.edu 37 21 11175282 11175283 + RNA INS - - G rs56073885 TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr21:11175282_11175283insG ENST00000603265.1 + 0 231 GATCATCTGTAGTGTACGGTGG 0.391 5 3 --- --- --- ---