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 NLRP3 114548 broad.mit.edu 37 1 247607294 247607294 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:247607294C>T ENST00000366497.2 + 7 3299 c.2519C>T c.(2518-2520)aCg>aTg p.T840M NLRP3_ENST00000366496.2_Missense_Mutation_p.T840M|NLRP3_ENST00000391828.3_Missense_Mutation_p.T897M|NLRP3_ENST00000336119.3_Missense_Mutation_p.T897M|NLRP3_ENST00000391827.2_Missense_Mutation_p.T840M|NLRP3_ENST00000348069.2_Missense_Mutation_p.T783M NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 897 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCTGGCCTTACGTCAGTCTGT 0.512000 19 30 0 0 1 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23056899 23056899 + Missense_Mutation SNP C C G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr8:23056899C>G ENST00000221132.3 - 8 958 c.894G>C c.(892-894)gaG>gaC p.E298D NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 298 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TGCTCAGAATCTCGTTGTGAG 0.562000 67 11 0 0 1 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894529 78894529 + Missense_Mutation SNP G G A rs112696857 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr15:78894529G>A ENST00000326828.5 - 5 839 c.455C>T c.(454-456)cCg>cTg p.P152L CHRNA3_ENST00000348639.3_Missense_Mutation_p.P152L NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 152 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AAAGATGGCCGGAGGTATCCA 0.502000 3 107 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128040858 128040858 + Missense_Mutation SNP G G T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr6:128040858G>T ENST00000368250.1 - 6 2130 c.1632C>A c.(1630-1632)agC>agA p.S544R THEMIS_ENST00000537166.1_Missense_Mutation_p.S588R|THEMIS_ENST00000543064.1_Missense_Mutation_p.S662R|THEMIS_ENST00000368248.2_Missense_Mutation_p.S623R Q8N1K5 THMS1_HUMAN thymocyte selection associated 623 negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 CCCCACGGTTGCTCCTTTCTT 0.438000 40 47 2.52991e-16 2.69857e-16 1 1 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709534 31709534 + Silent SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr21:31709534G>A ENST00000382835.2 - 1 478 c.453C>T c.(451-453)ttC>ttT p.F151F NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 151 intermediate filament p.F151F(2) endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 CCAGAGTTTCGAAATTTTTAG 0.493000 81 100 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205210891 205210891 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:205210891C>T ENST00000358024.3 + 2 855 c.466C>T c.(466-468)Cgc>Tgc p.R156C TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.R78C NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 156 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) GCAGCAGATCCGCTCCCGGCC 0.706000 7 18 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651669 84651669 + Missense_Mutation SNP G G C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr15:84651669G>C ENST00000286744.5 + 21 3513 c.3289G>C c.(3289-3291)Gat>Cat p.D1097H ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1097H NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1097 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCCCAGTTTGATGAGCTGAT 0.473000 31 64 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728097 20728097 + Silent SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:20728097C>T ENST00000427401.4 - 4 1006 c.912G>A c.(910-912)aaG>aaA p.K304K NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 304 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TATGAATTATCTTATGCGCAG 0.408000 30 44 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82451883 82451883 + Missense_Mutation SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr7:82451883T>C ENST00000333891.9 - 20 15056 c.14719A>G c.(14719-14721)Acc>Gcc p.T4907A PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.T4907A NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCCAGGTGGGTCTGAGTGACG 0.502000 77 165 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179394807 179394807 + Missense_Mutation SNP C C G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr2:179394807C>G ENST00000589042.1 - 359 106635 c.106411G>C c.(106411-106413)Gac>Cac p.D35471H TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D32903H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26531H|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26598H|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D26406H|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33830H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33830 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) CCTCCCTTGTCTTCAGAGAGT 0.348000 13 26 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527693 23527693 + Silent SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr5:23527693T>C ENST00000296682.3 + 11 2678 c.2496T>C c.(2494-2496)taT>taC p.Y832Y NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 832 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.Y832Y(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGAAGCCCTATGTCTGCAGGG 0.587000 HNSCC(3;0.000094) 5 331 0 0 1 0 0 ATG16L1 55054 broad.mit.edu 37 2 234183394 234183394 + Silent SNP G G T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr2:234183394G>T ENST00000392017.4 + 9 1181 c.924G>T c.(922-924)gtG>gtT p.V308V ATG16L1_ENST00000347464.5_Silent_p.V145V|ATG16L1_ENST00000392020.4_Silent_p.V289V|ATG16L1_ENST00000373525.5_Silent_p.V164V|ATG16L1_ENST00000392018.1_Silent_p.V325V|ATG16L1_ENST00000498620.1_3'UTR NM_001190266.1|NM_001190267.1|NM_030803.6 NP_001177195.1|NP_001177196.1|NP_110430.5 Q676U5 A16L1_HUMAN autophagy related 16-like 1 (S. cerevisiae) 308 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) GTAAAGAAGTGAGGGTACCAG 0.473000 34 34 2.35958e-20 2.5509e-20 1 1 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 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 TCATGGAAAAAGGGATAGCTG 0.522000 3 86 0 0 1 0 0 TMEM55A 55529 broad.mit.edu 37 8 92008912 92008912 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr8:92008912C>T ENST00000285419.3 - 6 914 c.600G>A c.(598-600)atG>atA p.M200I NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 200 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity p.M200_G206delMICIFIG(1) breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) AAATACATATCATTCCAATGG 0.393000 14 36 0 0 1 0 0 ADH6 130 broad.mit.edu 37 4 100137347 100137347 + Missense_Mutation SNP G G T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr4:100137347G>T ENST00000394897.1 - 2 173 c.91C>A c.(91-93)Cca>Aca p.P31T ADH6_ENST00000394899.2_Missense_Mutation_p.P31T|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000237653.7_Missense_Mutation_p.P31T P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 31 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) GCCTTTGGTGGGGCCACTTCT 0.403000 32 45 6.45866e-13 6.79859e-13 1 1 0 UMODL1 89766 broad.mit.edu 37 21 43519101 43519101 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr21:43519101C>T ENST00000400424.2 + 7 1177 c.781C>T c.(781-783)Cgt>Tgt p.R261C UMODL1_ENST00000408989.2_Missense_Mutation_p.R333C|UMODL1_ENST00000408910.2_Missense_Mutation_p.R333C|UMODL1_ENST00000400427.1_Missense_Mutation_p.R261C NM_001199528.2 NP_001186457 Q5DID0 UROL1_HUMAN uromodulin-like 1 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 AGTATCCTGGCGTTTAAATTC 0.522000 5 119 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179428319 179428319 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr2:179428319C>T ENST00000589042.1 - 326 82764 c.82540G>A c.(82540-82542)Gtt>Att p.V27514I TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24946I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18574I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18641I|TTN_ENST00000460472.2_Missense_Mutation_p.V18449I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25873I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25873 Fibronectin type-III 100. 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) GTCCATCTAACGCCTTCCTTA 0.463000 59 65 0 0 1 0 0 ZFP69B 65243 broad.mit.edu 37 1 40928396 40928396 + Missense_Mutation SNP G G C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:40928396G>C ENST00000411995.2 + 6 1115 c.740G>C c.(739-741)aGa>aCa p.R247T ZFP69B_ENST00000361584.3_Missense_Mutation_p.R145T|ZFP69B_ENST00000484445.1_3'UTR NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B GGTCTTCCAAGAAAAAGAGAT 0.348000 53 57 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187209661 187209661 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr4:187209661G>A ENST00000264692.4 + 15 1948 c.1615G>A c.(1615-1617)Ggc>Agc p.G539S F11_ENST00000403665.2_Missense_Mutation_p.G591S|F11-AS1_ENST00000505103.1_RNA P03951 FA11_HUMAN coagulation factor XI 591 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GCATCTGGTAGGCATCACGAG 0.552000 53 82 0 0 1 0 0 TMEM138 51524 broad.mit.edu 37 11 61133705 61133705 + Silent SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr11:61133705G>A ENST00000542946.1 + 3 516 c.317G>A c.(316-318)tGa>tAa p.*106* TMEM138_ENST00000278826.6_Intron|TMEM138_ENST00000540194.1_Intron|TMEM138_ENST00000381787.2_Intron Q9NPI0 TM138_HUMAN transmembrane protein 138 0 integral to membrane central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 GTGGCAGTCTGAATTCTTTTT 0.433000 21 35 0 0 1 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 3 27 0 0 1 0 0 C2orf66 401027 broad.mit.edu 37 2 197672317 197672317 + Silent SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr2:197672317C>T ENST00000342506.2 - 2 1092 c.204G>A c.(202-204)aaG>aaA p.K68K NM_213608.2 NP_998773.1 Q6UXQ4 CB066_HUMAN chromosome 2 open reading frame 66 68 extracellular region endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 GACCTCTGCCCTTAAAATATG 0.388000 41 74 0 0 1 0 0 TMLHE 55217 broad.mit.edu 37 X 154743712 154743712 + Missense_Mutation SNP G G T rs145115289 byFrequency TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chrX:154743712G>T ENST00000334398.3 - 4 718 c.573C>A c.(571-573)ttC>ttA p.F191L TMLHE_ENST00000369439.4_Missense_Mutation_p.F191L|TMLHE-AS1_ENST00000452506.1_RNA NM_018196.3 NP_060666.1 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 191 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity p.F191L(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) CATTTTCTACGAATGCAATTC 0.418000 4 81 0.184627 0.184627 1 1 0 ZFYVE19 84936 broad.mit.edu 37 15 41105570 41105570 + Silent SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr15:41105570T>C ENST00000355341.4 + 8 1566 c.1065T>C c.(1063-1065)gaT>gaC p.D355D ZFYVE19_ENST00000570108.1_Silent_p.D332D|ZFYVE19_ENST00000564258.1_Silent_p.D180D|ZFYVE19_ENST00000336455.5_Silent_p.D345D|ZFYVE19_ENST00000299173.10_Silent_p.D287D NM_001077268.1 NP_001070736.1 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 355 zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) CAGACAGTGATGACGACGAGG 0.587000 9 23 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75501097 75501097 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr15:75501097G>A ENST00000360639.2 + 2 3028 c.2708G>A c.(2707-2709)cGc>cAc p.R903H C15orf39_ENST00000394987.4_Missense_Mutation_p.R903H|C15orf39_ENST00000567617.1_Missense_Mutation_p.R903H Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 903 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CTGGCGCTGCGCCAGCTGCCG 0.697000 22 19 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68950493 68950493 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr8:68950493G>A ENST00000288368.4 + 7 1082 c.805G>A c.(805-807)Gat>Aat p.D269N PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 269 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTTTCTTTTCGATAATCTTTT 0.418000 21 57 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 4 193 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6012658 6012658 + Missense_Mutation SNP T T G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr9:6012658T>G ENST00000259569.5 - 1 2960 c.2950A>C c.(2950-2952)Ata>Cta p.I984L NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 984 protein transport cytoplasm|nucleus binding p.I984L(4) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATCTTCCCTATTGCTGAGATA 0.363000 5 42 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38847487 38847487 + Missense_Mutation SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:38847487T>C ENST00000409235.3 + 11 1416 c.1301T>C c.(1300-1302)gTc>gCc p.V434A CATSPERG_ENST00000410018.1_Intron|CATSPERG_ENST00000215069.4_Missense_Mutation_p.V427A NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 434 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 TTCCAGGTGGTCAGCTACAAC 0.527000 74 99 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 5 266 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110391020 110391020 + Silent SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr12:110391020C>T ENST00000360185.4 - 13 1283 c.1119G>A c.(1117-1119)ctG>ctA p.L373L GIT2_ENST00000354574.4_Silent_p.L375L|GIT2_ENST00000553118.1_Silent_p.L373L|GIT2_ENST00000457474.2_Silent_p.L375L|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000356259.4_Silent_p.L373L|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000551209.1_Silent_p.L372L|GIT2_ENST00000320063.9_Silent_p.L373L|GIT2_ENST00000361006.5_Silent_p.L373L|GIT2_ENST00000355312.3_Silent_p.L373L|GIT2_ENST00000338373.5_Silent_p.L373L|GIT2_ENST00000547815.1_Silent_p.L373L NM_014776.3 NP_055591.2 Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 373 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 TGATGGTTTTCAGTATGAGCT 0.413000 48 134 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280114 39280114 + Silent SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr17:39280114T>C ENST00000394014.1 - 1 305 c.261A>G c.(259-261)agA>agG p.R87R NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 87 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament p.R87R(3) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGTCTGCAGCAGC 0.677000 4 199 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4835915 4835915 + Silent SNP C C G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr12:4835915C>G ENST00000252318.2 + 2 766 c.429C>G c.(427-429)ctC>ctG p.L143L RP11-234B24.6_ENST00000544741.2_3'UTR NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 143 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 CCCAGGACCTCTTCCGGAAGT 0.557000 85 44 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655933 19655933 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:19655933G>A ENST00000586018.1 + 8 2699 c.2597G>A c.(2596-2598)cGc>cAc p.R866H CILP2_ENST00000291495.5_Missense_Mutation_p.R860H Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 860 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 AACGGCTTCCGCATCAACCTC 0.701000 4 76 0 0 1 0 0 ZFAND4 93550 broad.mit.edu 37 10 46121709 46121709 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr10:46121709G>A ENST00000374366.3 - 8 1805 c.1340C>T c.(1339-1341)tCt>tTt p.S447F ZFAND4_ENST00000344646.5_Missense_Mutation_p.S521F|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron NM_001282905.1|NM_001282906.1 NP_001269834.1|NP_001269835.1 Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 521 zinc ion binding AGTAGTCCTAGAGAAAGAAGA 0.393000 5 69 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12726726 12726726 + Missense_Mutation SNP A A T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:12726726A>T ENST00000376221.1 + 4 1204 c.1204A>T c.(1204-1206)Agt>Tgt p.S402C NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 402 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TGCTGTAGTCAGTTATATAAA 0.438000 5 85 0 0 1 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798438 57798438 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr11:57798438C>T ENST00000302622.3 + 1 37 c.14C>T c.(13-15)aCc>aTc p.T5I OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) CAACCATATACCAAAAACTGG 0.458000 8 205 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 3 70 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23927314 23927314 + Silent SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:23927314G>A ENST00000402377.3 - 4 1179 c.1038C>T c.(1036-1038)gcC>gcT p.A346A ZNF681_ENST00000395385.3_Silent_p.A277A NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ACTGGTTAAAGGCTTTGCCAC 0.433000 5 158 0 0 1 0 0 PDP1 54704 broad.mit.edu 37 8 94934837 94934837 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr8:94934837C>T ENST00000396200.3 + 3 901 c.625C>T c.(625-627)Cgg>Tgg p.R209W PDP1_ENST00000520728.1_Missense_Mutation_p.R184W|PDP1_ENST00000297598.4_Missense_Mutation_p.R184W|PDP1_ENST00000517764.1_Missense_Mutation_p.R184W NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 184 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 GGAGAGCGGCCGGGCACTGCT 0.453000 29 49 0 0 1 0 0 GUSBP1 728411 broad.mit.edu 37 5 21497235 21497235 + RNA SNP C C T rs141635554 by1000genomes TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr5:21497235C>T ENST00000607545.1 + 0 179 NR_027026.1 AGTTTGAGAACTGGTGTAAGA 0.488000 4 119 0 0 1 0 0 NELFA 7469 broad.mit.edu 37 4 1985711 1985711 + Missense_Mutation SNP G G A rs149343602 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr4:1985711G>A ENST00000382882.3 - 9 2316 c.1199C>T c.(1198-1200)gCg>gTg p.A400V NELFA_ENST00000411638.2_Missense_Mutation_p.A389V|NELFA_ENST00000542778.1_Missense_Mutation_p.A254V negative elongation factor complex member A GGTGGGCGCCGCAGGCGTGGG 0.716000 3 34 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C C G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr10:37430948C>G ENST00000374660.1 + 7 1054 c.955C>G c.(955-957)Cca>Gca p.P319A ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGCCAGCAAAAGG 0.423000 3 115 0 0 1 0 0 LCE3D 84648 broad.mit.edu 37 1 152552263 152552263 + Silent SNP G G A rs139649941 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:152552263G>A ENST00000368787.3 - 2 206 c.150C>T c.(148-150)ggC>ggT p.G50G NM_032563.1 NP_115952.1 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 50 keratinization breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) GGAAGCAGCCGCCCTCGGAGC 0.672000 9 67 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51330226 51330226 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:51330226C>T ENST00000326856.4 - 4 515 c.386G>A c.(385-387)cGt>cAt p.R129H KLK15_ENST00000416184.1_Intron|KLK15_ENST00000596931.1_Missense_Mutation_p.R129H|KLK15_ENST00000301421.2_Missense_Mutation_p.R130H|KLK15_ENST00000598239.1_Missense_Mutation_p.R130H NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 130 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) GTGGGGGCAACGCGTGGGTAG 0.706000 29 34 0 0 1 0 0 PSMB9 5698 broad.mit.edu 37 6 32825140 32825140 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr6:32825140G>A ENST00000395330.1 + 3 308 c.160G>A c.(160-162)Gac>Aac p.D54N PSMB9_ENST00000374859.2_Missense_Mutation_p.D77N|PSMB9_ENST00000453265.2_Intron P28065 PSB9_HUMAN proteasome (prosome, macropain) subunit, beta type, 9 77 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity large_intestine(4)|lung(4)|skin(1) 9 AGCCGTGGCCGACATGGCCGC 0.602000 4 44 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109777922 109777922 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:109777922C>T ENST00000369923.4 + 7 849 c.838C>T c.(838-840)Cac>Tac p.H280Y SARS_ENST00000234677.2_Missense_Mutation_p.H280Y P49591 SYSC_HUMAN seryl-tRNA synthetase 280 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) TGCTGCCCTGCACCGGGATGA 0.587000 51 79 0 0 1 0 0 PITPNC1 26207 broad.mit.edu 37 17 65671602 65671602 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr17:65671602G>A ENST00000580974.1 + 8 1322 c.626G>A c.(625-627)cGa>cAa p.R209Q PITPNC1_ENST00000335257.6_Missense_Mutation_p.R209Q|PITPNC1_ENST00000299954.9_Missense_Mutation_p.R209Q|PITPNC1_ENST00000581322.1_Missense_Mutation_p.R209Q NM_012417.3|NM_181671.2 NP_036549.2|NP_858057.1 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 209 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) TAGGTGGTCCGAGACATTCTG 0.373000 15 96 0 0 1 0 0 FAM110B 90362 broad.mit.edu 37 8 59059268 59059268 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr8:59059268C>T ENST00000361488.3 + 5 1359 c.479C>T c.(478-480)gCg>gTg p.A160V FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 160 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) CACTCCTTCGCGGAGTCCCTG 0.697000 5 18 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2220125 2220125 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:2220125G>A ENST00000398665.3 + 23 2746 c.2710G>A c.(2710-2712)Gtg>Atg p.V904M NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 904 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCAGTCCCGTGCTGCAGCC 0.617000 5 75 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110448690 110448690 + Splice_Site SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr8:110448690T>C ENST00000378402.5 + 30 3731 c.e30+2 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACACCAAAAGTAAGGCCTCTG 0.393000 HNSCC(38;0.096) 26 14 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197975551 197975551 + Missense_Mutation SNP A A T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr2:197975551A>T ENST00000328737.2 - 9 925 c.849T>A c.(847-849)agT>agA p.S283R ANKRD44_ENST00000337207.5_Missense_Mutation_p.S283R|ANKRD44_ENST00000409919.1_Missense_Mutation_p.S308R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.S300R|ANKRD44_ENST00000539527.1_Missense_Mutation_p.S236R|ANKRD44_ENST00000409153.1_Missense_Mutation_p.S308R|ANKRD44_ENST00000450567.1_Missense_Mutation_p.S283R Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 308 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGTGCAGTGGACTTTTGCCAT 0.448000 8 166 0 0 1 0 0 GUSBP1 728411 broad.mit.edu 37 5 21497311 21497311 + RNA SNP C C T rs138516990 by1000genomes TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr5:21497311C>T ENST00000607545.1 + 0 179 NR_027026.1 ACCAGGTAAGCGGTGTTGAAC 0.537000 9 18 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152481 70152481 + Silent SNP A A G rs141618560 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr4:70152481A>G ENST00000335568.5 + 3 884 c.882A>G c.(880-882)gaA>gaG p.E294E UGT2B28_ENST00000511240.1_Silent_p.E294E NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 294 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E294E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AAATGGAGGAATTTGTACAGA 0.393000 3 125 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285491 16285491 + Silent SNP C C T rs16962973 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr17:16285491C>T ENST00000302182.3 + 2 662 c.270C>T c.(268-270)acC>acT p.T90T UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.T90T NM_001281720.1|NM_018955.3 NP_001268649.1|NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 90 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AGACCATCACCCTGGAAGTGG 0.552000 3 120 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41518645 41518645 + Missense_Mutation SNP G G T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:41518645G>T ENST00000324071.4 + 8 1226 c.1219G>T c.(1219-1221)Gcc>Tcc p.A407S CYP2B6_ENST00000330446.5_Missense_Mutation_p.A207S|CYP2B6_ENST00000593831.1_Missense_Mutation_p.A171S NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 407 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.A407T(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) AAAACCAGACGCCTTCAATCC 0.458000 109 101 1.16149e-67 1.27286e-67 1 1 0 MASP1 5648 broad.mit.edu 37 3 186968087 186968087 + Missense_Mutation SNP C C G TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr3:186968087C>G ENST00000337774.5 - 8 1431 c.1042G>C c.(1042-1044)Gag>Cag p.E348Q MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.E348Q|MASP1_ENST00000296280.6_Missense_Mutation_p.E348Q|MASP1_ENST00000392472.2_Missense_Mutation_p.E235Q|MASP1_ENST00000392470.2_Missense_Mutation_p.E322Q NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 348 Sushi 1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TTCAGACACTCAATCTGGAAT 0.488000 79 136 0 0 1 0 0 SLC2A13 114134 broad.mit.edu 37 12 40499377 40499377 + Silent SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr12:40499377G>A ENST00000280871.4 - 1 284 c.234C>T c.(232-234)ccC>ccT p.P78P SLC2A13_ENST00000380858.1_Silent_p.P78P NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 78 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) ACACGAAGGCGGGGGTCTCGT 0.726000 HNSCC(50;0.14) 6 7 0 0 1 0 0 SLC18B1 116843 broad.mit.edu 37 6 133111328 133111328 + Missense_Mutation SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr6:133111328T>C ENST00000538764.1 - 3 372 c.37A>G c.(37-39)Att>Gtt p.I13V SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000460518.1_5'UTR|SLC18B1_ENST00000275227.4_Silent_p.V89V Q6NT16 CF192_HUMAN solute carrier family 18, subfamily B, member 1 0 transmembrane transport integral to membrane AGTTTCCAAATACCAAGGATG 0.313000 5 6 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45784025 45784025 + Missense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr21:45784025C>T ENST00000397928.1 + 3 728 c.283C>T c.(283-285)Cat>Tat p.H95Y TRPM2_ENST00000300482.5_Missense_Mutation_p.H95Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.H95Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H95Y NM_003307.3 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 95 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TGGCTACACGCATGAGCAGCA 0.582000 23 23 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12905875 12905875 + Nonsense_Mutation SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chrX:12905875C>T ENST00000380659.3 + 3 2387 c.2248C>T c.(2248-2250)Cga>Tga p.R750* NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 750 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) CTTCCAGTTGCGATATCTGGA 0.383000 7 53 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36050775 36050775 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr19:36050775G>A ENST00000262623.3 - 7 1016 c.988C>T c.(988-990)Cgg>Tgg p.R330W NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 330 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ACCATGGCCCGCAGGAAGGTG 0.577000 27 27 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75475655 75475655 + RNA SNP C C T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr3:75475655C>T ENST00000459803.1 - 0 874 NR_024241.1 GTAAAGGCCACGTAGACCTCA 0.647000 4 88 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 1017767 1017767 + Missense_Mutation SNP A A G rs144574284 by1000genomes TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr12:1017767A>G ENST00000537687.1 + 28 8381 c.7738A>G c.(7738-7740)Atg>Gtg p.M2580V WNK1_ENST00000340908.4_Missense_Mutation_p.M1913V|WNK1_ENST00000315939.6_Missense_Mutation_p.M2320V|WNK1_ENST00000530271.2_Missense_Mutation_p.M2818V|WNK1_ENST00000535572.1_Missense_Mutation_p.M2072V NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2320 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CACCAAGTCTATGTGCCCCCC 0.592000 64 40 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39032712 39032712 + Splice_Site SNP T T A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr17:39032712T>A ENST00000167588.3 - 8 1219 c.e8-2 NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TCTTTATATCTGAATTCATAT 0.303000 29 46 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21143902 21143902 + Missense_Mutation SNP T T C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr1:21143902T>C ENST00000602326.1 - 32 4931 c.4348A>G c.(4348-4350)Atc>Gtc p.I1450V EIF4G3_ENST00000374937.3_Missense_Mutation_p.I1450V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.I1444V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.I1444V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.I1164V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.I1048V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.I934V NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1444 EIF4A-binding (By similarity).|W2. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CAGTCAAAGATCTGTTCATCA 0.428000 45 43 0 0 1 0 0 ANXA2 302 broad.mit.edu 37 15 60641322 60641322 + Missense_Mutation SNP C C A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr15:60641322C>A ENST00000396024.3 - 13 1071 c.912G>T c.(910-912)agG>agT p.R304S ANXA2_ENST00000451270.2_Missense_Mutation_p.R304S|ANXA2_ENST00000332680.4_Missense_Mutation_p.R322S|ANXA2_ENST00000421017.2_Missense_Mutation_p.R304S NM_001136015.2 NP_001129487.1 P07355 ANXA2_HUMAN annexin A2 304 angiogenesis|positive regulation of vesicle fusion|skeletal system development basement membrane|melanosome|midbody|soluble fraction calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031) TGAATTCAGACCTAATTTTCA 0.502000 14 57 3.27435e-08 3.35831e-08 1 1 0 SH3BP2 6452 broad.mit.edu 37 4 2831730 2831731 + Frame_Shift_Ins INS - - C TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr4:2831730_2831731insC ENST00000356331.5 + 8 1358_1359 c.1097_1098insC c.(1096-1101)gaccccfs p.DP366fs SH3BP2_ENST00000452765.2_Frame_Shift_Ins_p.DP366fs|SH3BP2_ENST00000511747.1_Frame_Shift_Ins_p.DP366fs|SH3BP2_ENST00000435136.2_Frame_Shift_Ins_p.DP366fs|SH3BP2_ENST00000503393.2_Frame_Shift_Ins_p.DP423fs|SH3BP2_ENST00000442312.2_Frame_Shift_Ins_p.DP394fs NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 366 signal transduction SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) GCTGAAGAGGACCCCCCAAGGG 0.658 Cherubism 115 33 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253235 174253240 + In_Frame_Del DEL TCTTCA TCTTCA - TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr4:174253235_174253240delTCTTCA ENST00000296503.5 - 5 1494_1499 c.621_626delTGAAGA c.(619-627)gatgaagaa>gaa p.DE207del HMGB2_ENST00000438704.2_In_Frame_Del_p.DE207del|HMGB2_ENST00000446922.2_In_Frame_Del_p.DE207del P26583 HMGB2_HUMAN high mobility group box 2 207 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) AGCCATTTAttcttcatcttcatcct 0.442 59 112 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(160-162)gcc>GCCgcc p.54_54A>AA KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 54 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 3 3 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)agcdel p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 2 4 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88512304 88512305 + Frame_Shift_Ins INS - - T rs77980773 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr12:88512304_88512305insT ENST00000552810.1 - 17 2009_2010 c.1666_1667insA c.(1666-1668)attfs p.I556fs CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I558fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 556 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.I558fs*20(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CATTTGACGAATTTTTTTTTTC 0.312 3 6 --- --- --- --- TUNAR 100507043 broad.mit.edu 37 14 96355806 96355808 + RNA DEL CCT CCT - rs2369329 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr14:96355806_96355808delCCT ENST00000503525.2 + 0 406 NR_038861.1 tctccctccccctcctcctcctc 0.606 2 4 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102296030 102296032 + RNA DEL CTC CTC - TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr15:102296030_102296032delCTC ENST00000561463.1 + 0 4076_4078 AGTTCATCTTCTCGGAGCTGCTG 0.596 5 3 --- --- --- --- FBRS 64319 broad.mit.edu 37 16 30671164 30671166 + In_Frame_Del DEL GAG GAG - TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr16:30671164_30671166delGAG ENST00000356166.6 + 1 1413_1415 c.325_327delGAG c.(325-327)gagdel p.E115del Q9HAH7 FBRS_HUMAN fibrosin 312 ovary(1) 1 Colorectal(24;0.103) CGGggaggaagaggaggaggagg 0.734 5 5 --- --- --- --- ANKFY1 51479 broad.mit.edu 37 17 4086731 4086732 + Frame_Shift_Ins INS - - GC TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr17:4086731_4086732insGC ENST00000341657.4 - 14 1948_1949 c.1913_1914insGC c.(1912-1914)gcafs p.A638fs CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Frame_Shift_Ins_p.A680fs|ANKFY1_ENST00000574367.1_Frame_Shift_Ins_p.A638fs NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 638 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GCAGGAAGAGTGCGCTCTTGCT 0.550 60 101 --- --- --- --- RP11-161I6.2 0 broad.mit.edu 37 18 2089466 2089466 + RNA DEL A A - rs58767171 TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr18:2089466delA ENST00000579097.1 - 0 310 CTGCCCCCCCACCCACTCACC 0.527 12 3 --- --- --- --- CABLES1 91768 broad.mit.edu 37 18 20716015 20716023 + In_Frame_Del DEL GGCGCCGGC GGCGCCGGC - TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr18:20716015_20716023delGGCGCCGGC ENST00000256925.7 + 1 289_297 c.289_297delGGCGCCGGC c.(289-297)ggcgccggcdel p.GAG97del CABLES1_ENST00000400473.2_Intron NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 97 Ala-rich.|Interacts with TDRD7 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) ggccaagccgggcgccggcggcgcctgcg 0.785 4 2 --- --- --- --- HPS4 89781 broad.mit.edu 37 22 26868322 26868322 + Frame_Shift_Del DEL G G - TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8867b16f-cd05-41e9-b3ca-4c72a1ebeb70 8ad1181e-2e1d-40cb-a18d-9240b5ab1733 g.chr22:26868322delG ENST00000398145.2 - 6 1063 c.447delC c.(445-447)aacfs p.N149fs HPS4_ENST00000402105.3_Frame_Shift_Del_p.N144fs|HPS4_ENST00000336873.5_Frame_Shift_Del_p.N149fs|HPS4_ENST00000398141.1_Frame_Shift_Del_p.N144fs NM_022081.5 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 149 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 GATCACTGGTGTTTTTCAGAA 0.393 Hermansky-Pudlak syndrome 68 104 --- --- --- ---