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 DHRS7C 201140 broad.mit.edu 37 17 9684878 9684878 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr17:9684878C>A ENST00000330255.4 - 2 200 c.188G>T c.(187-189)aGg>aTg p.R63M DHRS7C_ENST00000571134.1_Missense_Mutation_p.R63M NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 63 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 CAGCACCAGCCTTGCCCCACC 0.567000 11 26 6.40141e-05 6.96728e-05 1 1 0 KIF16B 55614 broad.mit.edu 37 20 16486741 16486741 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr20:16486741G>A ENST00000354981.2 - 8 951 c.794C>T c.(793-795)aCc>aTc p.T265I KIF16B_ENST00000408042.1_Missense_Mutation_p.T265I|KIF16B_ENST00000355755.3_Missense_Mutation_p.T265I|KIF16B_ENST00000378003.2_5'UTR NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 265 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CCTAACCCCGGTGGCTCCGGT 0.517000 41 86 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32789651 32789651 + Missense_Mutation SNP T T A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr5:32789651T>A ENST00000326958.1 + 1 707 c.144T>A c.(142-144)caT>caA p.H48Q NPR3_ENST00000265074.8_3'UTR GAGAAATGCATGGGAAAAGAA 0.388000 34 101 0 0 1 0 0 ADD3 120 broad.mit.edu 37 10 111879111 111879111 + Splice_Site SNP A A G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr10:111879111A>G ENST00000277900.8 + 7 1225 c.861_splice c.e7+1 p.K287_splice ADD3_ENST00000360162.3_Splice_Site_p.K287_splice|ADD3_ENST00000356080.4_Splice_Site_p.K287_splice NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 287 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) CCAAGTTGTAAGGTATGTAGT 0.433000 30 96 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606803 55606803 + Silent SNP T T C TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:55606803T>C ENST00000378396.1 + 1 576 c.576T>C c.(574-576)ccT>ccC p.P192P NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TCTCTTACCCTGACTCTTATC 0.388000 24 47 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118343171 118343171 + Missense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:118343171G>T ENST00000534358.1 + 3 1320 c.1297G>T c.(1297-1299)Gat>Tat p.D433Y KMT2A_ENST00000389506.5_Missense_Mutation_p.D433Y|KMT2A_ENST00000354520.4_Missense_Mutation_p.D433Y NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGAGGATGAGGATTATGACCC 0.453000 19 110 1.33834e-09 1.6175e-09 1 1 0 PCDHGA9 56107 broad.mit.edu 37 5 140782699 140782699 + Silent SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr5:140782699G>T ENST00000573521.1 + 1 180 c.180G>T c.(178-180)gcG>gcT p.A60A PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAGCTGGCGGAGCGCCGAG 0.612000 31 95 1.61788e-16 2.18303e-16 1 1 0 SLFN13 146857 broad.mit.edu 37 17 33768315 33768315 + Missense_Mutation SNP T T A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr17:33768315T>A ENST00000285013.6 - 6 2268 c.1993A>T c.(1993-1995)Atc>Ttc p.I665F SLFN13_ENST00000542635.1_Missense_Mutation_p.I665F|SLFN13_ENST00000534689.1_Missense_Mutation_p.I347F|SLFN13_ENST00000533791.1_Missense_Mutation_p.I665F|SLFN13_ENST00000526861.1_Missense_Mutation_p.I665F|SLFN13_ENST00000360502.2_Missense_Mutation_p.I347F NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 665 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TCAATGACGATGTGTTGAATG 0.403000 44 91 0 0 1 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55044971 55044971 + Silent SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:55044971C>T ENST00000335056.3 + 3 129 c.91C>T c.(91-93)Ctg>Ttg p.L31L endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) CAAGTTCTCCCTGTCAGCCTG 0.557000 26 48 0 0 1 0 0 GPR148 344561 broad.mit.edu 37 2 131487317 131487317 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr2:131487317G>A ENST00000309926.4 + 1 675 c.593G>A c.(592-594)gGa>gAa p.G198E NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 198 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) GAGGAGCAAGGAGCTTCATAC 0.582000 32 41 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30736202 30736202 + Silent SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr16:30736202G>A ENST00000262518.4 + 25 5842 c.5457G>A c.(5455-5457)caG>caA p.Q1819Q SRCAP_ENST00000395059.2_Silent_p.Q1757Q|SRCAP_ENST00000344771.4_Silent_p.Q1661Q NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1819 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) cagcTTCCCAGGCATCTTCCC 0.627000 14 85 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33937685 33937685 + Silent SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr5:33937685G>T ENST00000330120.3 + 1 1195 c.840G>T c.(838-840)ctG>ctT p.L280L NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 280 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 TGCTGCCGCTGGGCATCATTA 0.677000 3 15 6.4e-05 6.96728e-05 1 1 0 SLC12A3 6559 broad.mit.edu 37 16 56899385 56899385 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr16:56899385C>T ENST00000438926.2 + 1 267 c.238C>T c.(238-240)Cgg>Tgg p.R80W SLC12A3_ENST00000566786.1_Missense_Mutation_p.R80W|SLC12A3_ENST00000563236.1_Missense_Mutation_p.R80W|SLC12A3_ENST00000262502.5_Missense_Mutation_p.R80W NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 80 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TGGTGAGCCCCGGAAGGTCCG 0.592000 6 78 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169503080 169503080 + Silent SNP C C A rs142830212 TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr5:169503080C>A ENST00000256935.8 + 47 4938 c.4858C>A c.(4858-4860)Cga>Aga p.R1620R DOCK2_ENST00000520908.1_Silent_p.R1112R|DOCK2_ENST00000540750.1_Silent_p.R681R|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1620 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTACGGTGTCCGAGAGATGGT 0.537000 19 50 8.28177e-16 1.08767e-15 1 1 0 DNM1 1759 broad.mit.edu 37 9 130984810 130984810 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr9:130984810G>A ENST00000341179.7 + 8 1155 c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K DNM1_ENST00000372923.3_Missense_Mutation_p.E355K|DNM1_ENST00000486160.1_Missense_Mutation_p.E355K|DNM1_ENST00000393594.3_Missense_Mutation_p.E355K|DNM1_ENST00000475805.1_Missense_Mutation_p.E355K NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 355 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CGACACCTACGAACTGTCAGG 0.597000 26 55 0 0 1 0 0 ZBTB12 221527 broad.mit.edu 37 6 31868724 31868724 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr6:31868724C>A ENST00000375527.2 - 2 534 c.359G>T c.(358-360)cGg>cTg p.R120L C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 GAGGGCATTCCGGCATTTCTC 0.567000 15 38 1.49906e-05 1.65907e-05 1 1 0 ACTL8 81569 broad.mit.edu 37 1 18152796 18152796 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr1:18152796G>A ENST00000375406.1 + 3 1099 c.883G>A c.(883-885)Gtg>Atg p.V295M NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 295 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GGTCTCCCACGTGATGGCCTG 0.657000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 29 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069675 114069675 + Missense_Mutation SNP G G C rs149352178 byFrequency TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr3:114069675G>C ENST00000462705.1 - 11 1852 c.1031C>G c.(1030-1032)gCt>gGt p.A344G ZBTB20_ENST00000464560.1_Missense_Mutation_p.A344G|ZBTB20_ENST00000474710.1_Missense_Mutation_p.A417G|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A344G|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A344G|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A344G|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A344G NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) ACCACCCTCAGCGGGGGCTTC 0.622000 5 99 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104120846 104120846 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr10:104120846G>A ENST00000369983.3 + 13 1717 c.1457G>A c.(1456-1458)aGc>aAc p.S486N GBF1_ENST00000476019.1_3'UTR NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 486 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CTGTTTGAGAGCATGCGAGAG 0.468000 36 104 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123016222 123016222 + Missense_Mutation SNP A A G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr3:123016222A>G ENST00000462833.1 - 16 4120 c.2908T>C c.(2908-2910)Ttc>Ctc p.F970L ADCY5_ENST00000309879.5_Missense_Mutation_p.F620L|ADCY5_ENST00000491190.1_Missense_Mutation_p.F603L NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 970 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CCGTTGTTGAAGAAGTCTCTG 0.622000 41 114 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75475702 75475702 + RNA SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr3:75475702C>A ENST00000459803.1 - 0 827 NR_024241.1 AGCCAGCCTCCGCAGGATCCC 0.572000 16 31 3.41278e-10 4.20199e-10 1 1 0 GNLY 10578 broad.mit.edu 37 2 85924776 85924776 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr2:85924776C>T ENST00000409696.3 + 5 640 c.358C>T c.(358-360)Ctc>Ttc p.L120F GNLY_ENST00000524600.1_Missense_Mutation_p.L162F|GNLY_ENST00000263863.4_Missense_Mutation_p.L135F NM_012483.2 NP_036615.2 P22749 GNLY_HUMAN granulysin 135 Saposin B-type. cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 19 CTGTGAGGACCTCAGGTTGTG 0.542000 6 38 0 0 1 0 0 TRMT2B 79979 broad.mit.edu 37 X 100276115 100276115 + Silent SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chrX:100276115G>A ENST00000338687.7 - 9 1711 c.906C>T c.(904-906)atC>atT p.I302I TRMT2B_ENST00000372931.5_Silent_p.I347I|TRMT2B_ENST00000372935.1_Silent_p.I347I|TRMT2B_ENST00000372936.3_Silent_p.I347I|TRMT2B_ENST00000372939.1_Silent_p.I302I|TRMT2B_ENST00000545398.1_Silent_p.I347I Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 347 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 TGTCAAGAAGGATGGTGTCAG 0.557000 14 16 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132496110 132496110 + Silent SNP A A G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr12:132496110A>G ENST00000333577.4 + 17 3589 c.3480A>G c.(3478-3480)aaA>aaG p.K1160K EP400_ENST00000330386.6_Silent_p.K1124K|EP400_ENST00000332482.4_Silent_p.K1087K|EP400_ENST00000389561.2_Silent_p.K1124K|EP400_ENST00000389562.2_Silent_p.K1123K Q96L91 EP400_HUMAN E1A binding protein p400 1160 Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TTGAATTGAAACGTTGGTGTC 0.383000 11 43 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29364792 29364792 + Missense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr6:29364792G>T ENST00000383555.2 + 1 377 c.316G>T c.(316-318)Ggc>Tgc p.G106C OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G106C(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 CCACTCCCTGGGCAGCACGGA 0.493000 7 65 5.35267e-07 6.02557e-07 1 1 0 PCLO 27445 broad.mit.edu 37 7 82584422 82584422 + Silent SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr7:82584422C>T ENST00000423517.2 - 5 6184 c.5847G>A c.(5845-5847)ggG>ggA p.G1949G PCLO_ENST00000333891.8_Silent_p.G1949G NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1880 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 CTATTAGCATCCCACCATACA 0.363000 22 45 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48732480 48732480 + Missense_Mutation SNP T T C rs17080319 by1000genomes TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr3:48732480T>C ENST00000431721.2 - 3 647 c.410A>G c.(409-411)gAt>gGt p.D137G IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000446860.1_Missense_Mutation_p.D140G|IP6K2_ENST00000453202.1_Missense_Mutation_p.D82G|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000449610.1_Missense_Mutation_p.D82G|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000443964.1_Missense_Mutation_p.D141G|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000417896.1_Missense_Mutation_p.D82G NM_001190316.1 NP_001177245.1 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 168 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 ATCTCTCACATCTCCTCGCCA 0.597000 4 38 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65155437 65155437 + Missense_Mutation SNP T T A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr4:65155437T>A ENST00000381210.3 - 9 933 c.823A>T c.(823-825)Aat>Tat p.N275Y TECRL_ENST00000507440.1_Missense_Mutation_p.N275Y NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 275 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CCTGTGTGATTGGGATGAGAC 0.274000 9 25 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32913247 32913247 + Silent SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr13:32913247C>T ENST00000544455.1 + 11 4982 c.4755C>T c.(4753-4755)atC>atT p.I1585I BRCA2_ENST00000380152.3_Silent_p.I1585I NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1585 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CCATTGAGATCACAGCTGCCC 0.403000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 19 103 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105349507 105349507 + Missense_Mutation SNP A A T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr14:105349507A>T ENST00000453495.1 + 8 944 c.716A>T c.(715-717)cAg>cTg p.Q239L CEP170B_ENST00000556508.1_Missense_Mutation_p.Q168L|CEP170B_ENST00000414716.3_Missense_Mutation_p.Q238L|CEP170B_ENST00000418279.1_Missense_Mutation_p.Q168L centrosomal protein 170B p.Q238fs*38(1)|p.Q169fs*38(1) CAGCCGTCGCAGCCCCCCGAG 0.706000 3 7 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78571094 78571094 + Splice_Site SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr12:78571094G>A ENST00000397909.2 + 27 5470 c.e27+1 NAV3_ENST00000266692.7_Splice_Site|NAV3_ENST00000536525.2_Splice_Site|NAV3_ENST00000228327.6_Splice_Site Q8IVL0 NAV3_HUMAN neuron navigator 3 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CTGCTTCAGCGTAAGTTGCTC 0.408000 HNSCC(70;0.22) 6 79 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42356450 42356450 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr14:42356450C>A ENST00000554171.1 + 5 3054 c.622C>A c.(622-624)Cag>Aag p.Q208K LRFN5_ENST00000298119.4_Missense_Mutation_p.Q208K|LRFN5_ENST00000554120.1_Missense_Mutation_p.Q208K Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 208 integral to membrane p.Q208E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AAATAAATTGCAGAAGCTACC 0.428000 HNSCC(30;0.082) 27 31 2.79863e-10 3.46749e-10 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T rs112445441 TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr12:25398281C>T ENST00000311936.3 - 2 229 c.38G>A c.(37-39)gGc>gAc p.G13D KRAS_ENST00000556131.1_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D|KRAS_ENST00000256078.4_Missense_Mutation_p.G13D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 13 G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CTTGCCTACGCCACCAGCTCC 0.338000 G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 3 13 0 0 1 0 0 SLC3A1 6519 broad.mit.edu 37 2 44547591 44547591 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr2:44547591C>T ENST00000260649.6 + 10 1947 c.1871C>T c.(1870-1872)aCc>aTc p.T624I SLC3A1_ENST00000409740.3_Missense_Mutation_p.T255I|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.T346I|PREPL_ENST00000541738.1_3'UTR NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 624 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) AGGTTAAGTACCAATTCTGCC 0.388000 30 69 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107558439 107558439 + Silent SNP C C G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr9:107558439C>G ENST00000374736.3 - 39 5671 c.5277G>C c.(5275-5277)gtG>gtC p.V1759V NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1759 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGATCTTGAACACAAAGGAGG 0.527000 28 42 0 0 1 0 0 MOS 4342 broad.mit.edu 37 8 57026128 57026128 + Silent SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr8:57026128G>T ENST00000311923.1 - 1 413 c.414C>A c.(412-414)atC>atA p.I138I NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 138 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) CGAACTCCATGATGATGGTCC 0.637000 6 109 0.217242 0.218351 1 1 0 ZNF160 90338 broad.mit.edu 37 19 53572311 53572311 + Silent SNP T T C TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:53572311T>C ENST00000601421.1 - 3 2244 c.1368A>G c.(1366-1368)caA>caG p.Q456Q ZNF160_ENST00000429604.1_Silent_p.Q492Q|ZNF160_ENST00000418871.1_Silent_p.Q492Q|ZNF160_ENST00000599056.1_Silent_p.Q492Q Q9HCG1 ZN160_HUMAN zinc finger protein 160 492 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) GTTGTGAATTTTGAGTGAAAA 0.403000 41 83 0 0 1 0 0 GLB1 2720 broad.mit.edu 37 3 33109737 33109737 + Missense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr3:33109737G>T ENST00000307363.5 - 4 586 c.442C>A c.(442-444)Cgc>Agc p.R148S GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Missense_Mutation_p.R196S|GLB1_ENST00000399402.3_Missense_Mutation_p.R118S NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 148 R -> C (in GM1G3).|R -> S (in GM1G1). carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) TCGGAGGAGCGGAGAAGAATA 0.483000 15 43 2.5808e-16 3.45862e-16 1 1 0 LILRP2 79166 broad.mit.edu 37 19 55221935 55221935 + RNA SNP G G A rs45588833 by1000genomes TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:55221935G>A ENST00000413439.1 + 0 1462 CGGGCCCCACGGTGGCCTCAG 0.637000 7 51 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106959818 106959818 + Missense_Mutation SNP A A G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr10:106959818A>G ENST00000369701.3 + 15 2298 c.2071A>G c.(2071-2073)Atc>Gtc p.I691V SORCS3_ENST00000369699.4_5'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 691 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTACAAATCTATCTTCAGCCG 0.532000 38 113 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73804904 73804904 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:73804904C>A ENST00000334126.7 - 18 3527 c.3301G>T c.(3301-3303)Ggc>Tgc p.G1101C C2CD3_ENST00000313663.7_Missense_Mutation_p.G1101C Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1101 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) GGCACGAGGCCCTGTGCAGAG 0.507000 21 31 4.35082e-09 5.16332e-09 1 1 0 LCMT2 9836 broad.mit.edu 37 15 43622121 43622121 + Silent SNP C C G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr15:43622121C>G ENST00000305641.5 - 1 682 c.567G>C c.(565-567)gcG>gcC p.A189A LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 189 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) AGGTCAGCACCGCCTCGGCCA 0.677000 8 24 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71717190 71717190 + Silent SNP A A C TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:71717190A>C ENST00000393695.3 - 22 5914 c.5583T>G c.(5581-5583)ggT>ggG p.G1861G NUMA1_ENST00000358965.6_Silent_p.G1847G|NUMA1_ENST00000351960.6_Silent_p.G725G NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1861 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 AATCGGGAGAACCCAGGCGAG 0.632000 T RARA APL 12 59 0 0 1 0 0 C9orf156 51531 broad.mit.edu 37 9 100678545 100678545 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr9:100678545G>A ENST00000375119.3 - 2 228 c.152C>T c.(151-153)tCc>tTc p.S51F C9orf156_ENST00000478126.1_Intron NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 51 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) GCTACAAATGGATGGCTGTCT 0.413000 12 50 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29364791 29364791 + Silent SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr6:29364791G>T ENST00000383555.2 + 1 376 c.315G>T c.(313-315)ctG>ctT p.L105L OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 TCCACTCCCTGGGCAGCACGG 0.493000 6 64 3.32936e-07 3.79124e-07 1 1 0 UNC50 25972 broad.mit.edu 37 2 99232733 99232733 + Nonsense_Mutation SNP T T A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr2:99232733T>A ENST00000409975.1 + 3 1646 c.516T>A c.(514-516)taT>taA p.Y172* UNC50_ENST00000409347.1_Nonsense_Mutation_p.Y172*|UNC50_ENST00000357765.2_Nonsense_Mutation_p.Y155* Q53HI1 UNC50_HUMAN unc-50 homolog (C. elegans) 155 protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1) 10 AATGGGGCTATGCTTTTGATG 0.338000 47 69 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530738 140530738 + Silent SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr5:140530738G>T ENST00000231136.1 + 1 900 c.900G>T c.(898-900)cgG>cgT p.R300R PCDHB6_ENST00000543635.1_Silent_p.R164R NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 300 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGAAATTCGGCTGAGAAAGG 0.443000 36 75 1.03484e-13 1.33244e-13 1 1 0 ANKRD36 375248 broad.mit.edu 37 2 97868070 97868070 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr2:97868070G>A ENST00000420699.2 + 48 3143 c.2899G>A c.(2899-2901)Gag>Aag p.E967K ANKRD36_ENST00000461153.2_Missense_Mutation_p.E967K NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 967 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 TACAAGTGACGAGGAAGATTC 0.338000 8 16 0 0 1 0 0 CRLF2 64109 broad.mit.edu 37 X 1317534 1317534 + Silent SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chrX:1317534G>T ENST00000381567.3 - 5 530 c.531C>A c.(529-531)gcC>gcA p.A177A CRLF2_ENST00000467626.1_Intron NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 177 Fibronectin type-III. extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AACACTTCTCGGCATCCAAGC 0.493000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 12 31 2.80697e-09 3.35136e-09 1 1 0 OR2L13 284521 broad.mit.edu 37 1 248263233 248263233 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr1:248263233C>T ENST00000366478.2 + 3 893 c.556C>T c.(556-558)Ctt>Ttt p.L186F OR2L13_ENST00000358120.2_Missense_Mutation_p.L186F NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CATGTTGCTTCTTGCCTGTAC 0.458000 12 203 0 0 1 0 0 SLC22A20 440044 broad.mit.edu 37 11 65004191 65004191 + RNA SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:65004191G>A ENST00000525437.1 + 0 1441 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 GTCCACGCCCGCCTCGGGGGC 0.662000 9 31 0 0 1 0 0 ZNF274 10782 broad.mit.edu 37 19 58723691 58723691 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:58723691G>A ENST00000326804.4 + 9 1600 c.1141G>A c.(1141-1143)Gtg>Atg p.V381M ZNF274_ENST00000424679.2_Missense_Mutation_p.V276M|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.V349M NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 382 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) CCAAGACACAGTGTTGAAGCA 0.498000 17 28 0 0 1 0 0 FABP4 2167 broad.mit.edu 37 8 82391731 82391731 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr8:82391731C>A ENST00000256104.4 - 3 361 c.266G>T c.(265-267)gGg>gTg p.G89V FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA NM_001442.2 NP_001433.1 P15090 FABP4_HUMAN fatty acid binding protein 4, adipocyte 89 triglyceride catabolic process cytoplasm|nucleus|soluble fraction fatty acid binding|protein binding|transporter activity breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1) 6 Epithelial(68;0.213) CAGGACACCCCCATCTAAGGT 0.408000 166 78 6.68841e-61 9.54795e-61 1 1 0 ZNF777 27153 broad.mit.edu 37 7 149152397 149152397 + Silent SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr7:149152397G>A ENST00000247930.4 - 2 1040 c.717C>T c.(715-717)gtC>gtT p.V239V NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TCCCCAACACGACCCACTTGC 0.562000 37 76 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120745933 120745933 + Missense_Mutation SNP C C G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:120745933C>G ENST00000527524.2 + 11 1432 c.1145C>G c.(1144-1146)aCa>aGa p.T382R RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.T382R Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 382 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TTACAGTTCACAAGGAATGGT 0.493000 7 10 0 0 1 0 0 ZNF16 7564 broad.mit.edu 37 8 146156227 146156227 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr8:146156227C>A ENST00000276816.4 - 4 2132 c.1946G>T c.(1945-1947)aGg>aTg p.R649M ZNF16_ENST00000394909.2_Missense_Mutation_p.R649M NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 649 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) AGTGTGAATCCTCTGGTGCTG 0.527000 15 332 6.31663e-08 7.31986e-08 1 1 0 IRX1 79192 broad.mit.edu 37 5 3599910 3599910 + Missense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr5:3599910G>T ENST00000302006.3 + 2 900 c.848G>T c.(847-849)gGc>gTc p.G283V CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 283 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 TCGCCCTTGGGCCTGGCAAAG 0.741000 4 5 0.150653 0.152199 1 1 0 IQUB 154865 broad.mit.edu 37 7 123104950 123104950 + Silent SNP C C T rs138866231 TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr7:123104950C>T ENST00000466202.1 - 10 2271 c.1695G>A c.(1693-1695)gcG>gcA p.A565A IQUB_ENST00000434450.1_Silent_p.A565A|IQUB_ENST00000324698.6_Silent_p.A565A Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 565 p.A565A(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 AAAAGAGTGTCGCAATTCTTT 0.328000 7 125 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62394784 62394784 + Missense_Mutation SNP T T A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:62394784T>A ENST00000346178.4 - 19 2303 c.2288A>T c.(2287-2289)aAt>aTt p.N763I GANAB_ENST00000356638.3_Missense_Mutation_p.N741I|GANAB_ENST00000540933.1_Missense_Mutation_p.N644I|GANAB_ENST00000534779.1_Missense_Mutation_p.N649I NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 741 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 ATCATCTATATTGAAGGTAGT 0.478000 9 57 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40588533 40588533 + Missense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr15:40588533G>T ENST00000260402.3 - 16 1909 c.1660C>A c.(1660-1662)Cag>Aag p.Q554K PLCB2_ENST00000456256.2_Missense_Mutation_p.Q554K|PLCB2_ENST00000557821.1_Missense_Mutation_p.Q550K NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 554 PI-PLC Y-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TTGGTGGGCTGGATGTAATTG 0.537000 4 13 1.23904e-05 1.37904e-05 1 1 0 GPATCH8 23131 broad.mit.edu 37 17 42501731 42501731 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr17:42501731G>A ENST00000434000.1 - 7 526 c.244C>T c.(244-246)Cat>Tat p.H82Y GPATCH8_ENST00000591680.1_Missense_Mutation_p.H160Y Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 160 G-patch. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TTGTGTGCATGATCATAGGAG 0.378000 23 55 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338602 13338602 + RNA SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr4:13338602G>T ENST00000602906.1 + 0 448 kidney(3)|lung(1) 4 CCTTCACTGTGTGTGCTGACC 0.468000 21 48 3.62473e-10 4.43523e-10 1 1 0 ZNF229 7772 broad.mit.edu 37 19 44932524 44932524 + Missense_Mutation SNP A A T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:44932524A>T ENST00000291187.4 - 6 2736 c.2414T>A c.(2413-2415)cTg>cAg p.L805Q ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.L811Q|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 811 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GTGGTTCCGCAGACCTGAGGT 0.493000 20 52 0 0 1 0 0 DNAJB5 25822 broad.mit.edu 37 9 34996831 34996831 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr9:34996831G>A ENST00000541010.1 + 2 3793 c.781G>A c.(781-783)Gtg>Atg p.V261M DNAJB5_ENST00000545841.1_Missense_Mutation_p.V261M|DNAJB5_ENST00000335998.3_Missense_Mutation_p.V295M|DNAJB5_ENST00000454002.2_Missense_Mutation_p.V333M|DNAJB5_ENST00000453597.3_Missense_Mutation_p.V375M|DNAJB5_ENST00000312316.5_Missense_Mutation_p.V261M O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 261 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) TGGCACCAACGTGCTCTACAG 0.592000 3 31 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51467451 51467451 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr14:51467451C>T ENST00000298355.3 - 6 2535 c.1414G>A c.(1414-1416)Gcc>Acc p.A472T TRIM9_ENST00000360392.4_Missense_Mutation_p.A472T|TRIM9_ENST00000338969.5_Missense_Mutation_p.A468T NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 472 Fibronectin type-III. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) TATCCATCGGCGGGCACCGTG 0.542000 6 37 0 0 1 0 0 HHAT 55733 broad.mit.edu 37 1 210761257 210761257 + Silent SNP A A T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr1:210761257A>T ENST00000367010.1 + 10 1286 c.1059A>T c.(1057-1059)ccA>ccT p.P353P HHAT_ENST00000545781.1_Silent_p.P290P|HHAT_ENST00000545154.1_Silent_p.P354P|HHAT_ENST00000537898.1_Silent_p.P288P|HHAT_ENST00000391905.3_Silent_p.P353P|HHAT_ENST00000367009.1_Silent_p.P43P|HHAT_ENST00000413764.2_Silent_p.P353P|HHAT_ENST00000308852.6_Silent_p.P308P|HHAT_ENST00000261458.3_Silent_p.P353P|HHAT_ENST00000541565.1_Silent_p.P216P NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 353 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) TGTACATTCCAGTGGGCGGGT 0.537000 15 65 0 0 1 0 0 CRLF2 64109 broad.mit.edu 37 X 1317535 1317535 + Missense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chrX:1317535G>T ENST00000381567.3 - 5 529 c.530C>A c.(529-531)gCc>gAc p.A177D CRLF2_ENST00000467626.1_Intron NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 177 Fibronectin type-III. extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) ACACTTCTCGGCATCCAAGCC 0.498000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 12 29 2.80697e-09 3.35136e-09 1 1 0 ZNF676 163223 broad.mit.edu 37 19 22363054 22363054 + Missense_Mutation SNP A A T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:22363054A>T ENST00000397121.2 - 3 1782 c.1465T>A c.(1465-1467)Ttc>Atc p.F489I NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AGGATTGAGAACGTACTAAAG 0.408000 33 44 0 0 1 0 0 FAM124A 220108 broad.mit.edu 37 13 51854787 51854787 + Nonsense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr13:51854787C>T ENST00000322475.8 + 4 1171 c.1036C>T c.(1036-1038)Cga>Tga p.R346* FAM124A_ENST00000280057.6_Nonsense_Mutation_p.R382* NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 346 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) ATTTGCCGGACGAGCCAACAG 0.642000 5 44 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99440232 99440232 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr8:99440232G>A ENST00000287042.4 + 2 375 c.25G>A c.(25-27)Gtg>Atg p.V9M KCNS2_ENST00000521839.1_Missense_Mutation_p.V9M NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 9 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CCTGTGGGACGTGTCGGAGGC 0.716000 3 7 0 0 1 0 0 MRPL43 84545 broad.mit.edu 37 10 102746902 102746902 + Silent SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr10:102746902G>A ENST00000318325.2 - 2 236 c.183C>T c.(181-183)gtC>gtT p.V61V MRPL43_ENST00000318364.8_Silent_p.V61V|MRPL43_ENST00000299179.5_Silent_p.V61V|MRPL43_ENST00000370236.1_Silent_p.V61V|MRPL43_ENST00000342071.1_Silent_p.V61V|MRPL43_ENST00000477279.1_Intron|MRPL43_ENST00000370234.4_Silent_p.V61V|MRPL43_ENST00000370241.3_Silent_p.V61V|MRPL43_ENST00000370242.4_Silent_p.V61V|MRPL43_ENST00000493646.1_5'UTR NM_176792.2 NP_789762.1 Q8N983 RM43_HUMAN mitochondrial ribosomal protein L43 61 translation mitochondrial ribosome protein binding|structural constituent of ribosome endometrium(1)|skin(2)|upper_aerodigestive_tract(1) 4 Colorectal(252;0.234) Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) CATATATTACGACCCCTGGAT 0.647000 13 48 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190250881 190250881 + Splice_Site SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr1:190250881C>A ENST00000367462.3 - 3 468 c.e3-1 RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_Intron|FAM5C_ENST00000534846.1_Intron NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCCAAACTCCCTGAAAAGCAA 0.388000 11 39 3.86212e-05 4.25049e-05 1 1 0 PRCP 5547 broad.mit.edu 37 11 82550437 82550437 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:82550437C>A ENST00000313010.3 - 7 1146 c.952G>T c.(952-954)Gta>Tta p.V318L PRCP_ENST00000393399.2_Missense_Mutation_p.V339L|PRCP_ENST00000535099.1_Missense_Mutation_p.V213L|PRCP_ENST00000525772.1_5'UTR NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 318 SKS domain. blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 GAATCAGATACATTGGGATTT 0.348000 23 44 9.86323e-18 1.34934e-17 1 1 0 TECPR2 9895 broad.mit.edu 37 14 102901026 102901026 + Silent SNP G G A rs145129878 TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr14:102901026G>A ENST00000359520.7 + 9 2098 c.1872G>A c.(1870-1872)gcG>gcA p.A624A TECPR2_ENST00000558678.1_Silent_p.A624A NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 624 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CTCCTGGGGCGCATGATGGGG 0.567000 4 34 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3428362 3428362 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr2:3428362G>A ENST00000324266.5 + 5 1540 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K TRAPPC12_ENST00000382110.2_Missense_Mutation_p.E449K NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 449 binding GATGGAATTTGAACCCTTCGG 0.433000 52 156 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539799 56539799 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:56539799C>T ENST00000390649.3 + 7 2200 c.2200C>T c.(2200-2202)Cgg>Tgg p.R734W NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 734 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCCGTATTTGCGGAAAATTCG 0.502000 7 158 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11676204 11676204 + Missense_Mutation SNP T T A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr7:11676204T>A ENST00000423059.3 - 2 826 c.575A>T c.(574-576)cAg>cTg p.Q192L NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 192 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GCAATCTTGCTGGCAAGGAAT 0.577000 HNSCC(18;0.044) 8 43 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158074058 158074058 + Missense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr4:158074058G>T ENST00000264428.4 + 9 1363 c.1093G>T c.(1093-1095)Gcc>Tcc p.A365S GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.A365S NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 365 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) AGCTGAAAAAGCCAGAATTGC 0.448000 4 57 0.150653 0.152199 1 1 0 MUC16 94025 broad.mit.edu 37 19 9074337 9074337 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:9074337C>T ENST00000397910.4 - 3 13312 c.13109G>A c.(13108-13110)aGc>aAc p.S4370N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4372 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGGTTGGTGCTCACATCTGT 0.473000 23 38 0 0 1 0 0 MRPL36 64979 broad.mit.edu 37 5 1798920 1798920 + Missense_Mutation SNP G G C TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr5:1798920G>C ENST00000508987.1 - 2 266 c.130C>G c.(130-132)Ccc>Gcc p.P44A MRPL36_ENST00000505059.2_Missense_Mutation_p.P44A|MRPL36_ENST00000382647.7_Missense_Mutation_p.P44A|MRPL36_ENST00000505818.1_Missense_Mutation_p.P44A Q9P0J6 RM36_HUMAN mitochondrial ribosomal protein L36 44 translation mitochondrial large ribosomal subunit structural constituent of ribosome breast(1)|lung(2) 3 GBM - Glioblastoma multiforme(108;0.241) GCTGCCCCGGGTTCCACAGCC 0.587000 4 64 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 74005244 74005244 + Missense_Mutation SNP A A T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr7:74005244A>T ENST00000476977.1 + 24 4180 c.2489A>T c.(2488-2490)gAt>gTt p.D830V GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.D845V|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.D830V|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.D862V Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 845 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGTCTGCCTGATGACATCCCC 0.607000 25 52 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216850763 216850763 + Missense_Mutation SNP G G C TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr1:216850763G>C ENST00000391890.3 - 4 575 c.58C>G c.(58-60)Cct>Gct p.P20A ESRRG_ENST00000361525.3_Missense_Mutation_p.P20A|ESRRG_ENST00000360012.3_Missense_Mutation_p.P20A|ESRRG_ENST00000463665.1_Missense_Mutation_p.P20A|ESRRG_ENST00000366937.1_Missense_Mutation_p.P48A|ESRRG_ENST00000366940.2_Missense_Mutation_p.P20A|ESRRG_ENST00000487276.1_Missense_Mutation_p.P20A|ESRRG_ENST00000493748.1_Missense_Mutation_p.P20A|ESRRG_ENST00000493603.1_Missense_Mutation_p.P20A|ESRRG_ENST00000361395.2_Missense_Mutation_p.P20A|ESRRG_ENST00000366938.2_Missense_Mutation_p.P20A|ESRRG_ENST00000408911.3_Missense_Mutation_p.P43A|ESRRG_ENST00000359162.2_Missense_Mutation_p.P20A NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 43 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) GGGCTGGAAGGTTCCGTCTTG 0.522000 31 31 0 0 1 0 0 MYL9 10398 broad.mit.edu 37 20 35173418 35173418 + Missense_Mutation SNP A A T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr20:35173418A>T ENST00000279022.2 + 2 235 c.131A>T c.(130-132)aAc>aTc p.N44I RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.N44I NM_006097.4 NP_006088.2 P24844 MYL9_HUMAN myosin, light chain 9, regulatory 44 EF-hand 1. axon guidance|muscle contraction|regulation of muscle contraction cytosol|muscle myosin complex calcium ion binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(3)|lung(2) 8 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) ATTGACCAGAACCGTGATGGC 0.567000 4 62 0 0 1 0 0 ABCB9 23457 broad.mit.edu 37 12 123424663 123424663 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr12:123424663G>A ENST00000542678.1 - 9 4576 c.1738C>T c.(1738-1740)Cgt>Tgt p.R580C ABCB9_ENST00000442028.2_Missense_Mutation_p.R580C|ABCB9_ENST00000442833.2_Missense_Mutation_p.R580C|ABCB9_ENST00000346530.5_Missense_Mutation_p.R537C|ABCB9_ENST00000344275.7_Missense_Mutation_p.R580C|ABCB9_ENST00000540285.1_Missense_Mutation_p.R517C|ABCB9_ENST00000392439.3_Missense_Mutation_p.R580C|ABCB9_ENST00000280560.8_Missense_Mutation_p.R580C Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 580 ABC transporter. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CATACCACACGGTGCAAGTAC 0.592000 6 5 0 0 1 0 0 ANXA3 306 broad.mit.edu 37 4 79525509 79525509 + Missense_Mutation SNP G G C TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr4:79525509G>C ENST00000264908.6 + 12 1247 c.868G>C c.(868-870)Gag>Cag p.E290Q ANXA3_ENST00000503570.2_Missense_Mutation_p.E251Q|ANXA3_ENST00000512884.1_Missense_Mutation_p.E251Q NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 290 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 CATTCGAACAGAGTTCAAGAA 0.373000 6 86 0 0 1 0 0 ZNF800 168850 broad.mit.edu 37 7 127017243 127017243 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr7:127017243C>T ENST00000393313.1 - 4 889 c.298G>A c.(298-300)Gac>Aac p.D100N ZNF800_ENST00000393312.1_Missense_Mutation_p.D100N|ZNF800_ENST00000265827.3_Missense_Mutation_p.D100N Q2TB10 ZN800_HUMAN zinc finger protein 800 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 AACTTACTGTCATCCATCTGG 0.318000 29 63 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587400 55587400 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:55587400G>A ENST00000333976.4 + 1 315 c.295G>A c.(295-297)Gta>Ata p.V99I NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TTTAGGATGCGTAGTACAATT 0.428000 46 160 0 0 1 0 0 KCNQ1 3784 broad.mit.edu 37 11 2591893 2591893 + Silent SNP C C T rs139042529 byFrequency TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:2591893C>T ENST00000155840.5 + 3 621 c.513C>T c.(511-513)taC>taT p.Y171Y KCNQ1_ENST00000335475.5_Silent_p.Y44Y NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 171 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) GGACGGAGTACGTGGTCCGCC 0.647000 3 31 0 0 1 0 0 UTP18 51096 broad.mit.edu 37 17 49350801 49350801 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr17:49350801G>A ENST00000225298.7 + 5 758 c.701G>A c.(700-702)gGa>gAa p.G234E NM_016001.2 NP_057085.2 Q9Y5J1 UTP18_HUMAN UTP18 small subunit (SSU) processome component homolog (yeast) 234 rRNA processing nucleolus breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) CTTCCAAGAGGAATCTTGAAG 0.403000 8 88 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431150 135431150 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chrX:135431150C>T ENST00000394143.1 + 6 5576 c.5285C>T c.(5284-5286)tCc>tTc p.S1762F GPR112_ENST00000412101.1_Missense_Mutation_p.S1557F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1557F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1762F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1699F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1762 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTCCATACTTCCTTCAATATT 0.398000 51 39 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60687848 60687848 + Silent SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr2:60687848G>A ENST00000335712.6 - 4 2426 c.2199C>T c.(2197-2199)ccC>ccT p.P733P BCL11A_ENST00000356842.4_Silent_p.P733P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.P699P|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.P699P|BCL11A_ENST00000537768.1_Silent_p.P402P NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 733 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding p.G731fs*>40(1)|p.G731fs*56(1) NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CTTTTGAGCTGGGCCTGCCCG 0.637000 T IGH@ B-CLL 32 69 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60601668 60601668 + Silent SNP A A G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr17:60601668A>G ENST00000326270.9 + 6 607 c.339A>G c.(337-339)caA>caG p.Q113Q TLK2_ENST00000346027.5_Silent_p.Q113Q|TLK2_ENST00000542523.1_Intron|TLK2_ENST00000343388.7_Intron|TLK2_ENST00000582809.1_5'UTR Q86UE8 TLK2_HUMAN tousled-like kinase 2 113 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 CCTCACCGCAACATTCCTTAT 0.502000 10 28 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599234 29599234 + Silent SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr13:29599234G>T ENST00000431530.3 + 1 487 c.429G>T c.(427-429)tcG>tcT p.S143S NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 133 cytoplasm|microtubule microtubule binding|protein homodimerization activity p.S143S(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CAAGTCTGTCGAGTTGGAGGA 0.502000 19 51 1.67942e-08 1.96931e-08 1 1 0 FRZB 2487 broad.mit.edu 37 2 183723526 183723526 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr2:183723526C>T ENST00000295113.4 - 2 1123 c.514G>A c.(514-516)Ggg>Agg p.G172R NM_001463.3 NP_001454.2 Q92765 SFRP3_HUMAN frizzled-related protein 172 brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) CTGCTTGCCCCTCTACAGTTT 0.343000 31 75 0 0 1 0 0 ANKRD7 56311 broad.mit.edu 37 7 117874861 117874861 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr7:117874861G>A ENST00000357099.4 + 4 634 c.461G>A c.(460-462)tGt>tAt p.C154Y ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Missense_Mutation_p.C81Y|ANKRD7_ENST00000417525.1_Missense_Mutation_p.C81Y|ANKRD7_ENST00000265224.4_Missense_Mutation_p.C134Y Q92527 ANKR7_HUMAN ankyrin repeat domain 7 134 male gonad development p.C154F(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1) 29 TATGCTGTTTGTGGTCAAAGT 0.343000 25 55 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 32975399 32975399 + Splice_Site SNP A A T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr12:32975399A>T ENST00000340811.4 - 8 1948 c.e8+1 PKP2_ENST00000070846.6_Splice_Site NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TTCCCAATATACCTCTTTTAC 0.358000 15 39 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1387764 1387764 + Missense_Mutation SNP G G A rs9793256 by1000genomes TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr1:1387764G>A ENST00000378785.2 + 3 1167 c.172G>A c.(172-174)Ggg>Agg p.G58R NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 58 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CACCTTGTTTGGGGAAGGATT 0.567000 4 66 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642047 57642047 + Missense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:57642047G>T ENST00000254181.4 + 4 2458 c.2004G>T c.(2002-2004)aaG>aaT p.K668N USP29_ENST00000598197.1_Missense_Mutation_p.K668N NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 668 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATGGAGGGAAGCTGATCAGCA 0.473000 12 44 1.08611e-07 1.25125e-07 1 1 0 LRRC16B 90668 broad.mit.edu 37 14 24532648 24532648 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr14:24532648C>T ENST00000342740.5 + 31 3039 c.2885C>T c.(2884-2886)tCt>tTt p.S962F LRRC16B_ENST00000334420.7_Missense_Mutation_p.S58F NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 962 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GAAGGTCTATCTGAGCTGCCC 0.607000 20 25 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118949873 118949873 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr9:118949873C>T ENST00000328252.3 + 2 1225 c.856C>T c.(856-858)Ctc>Ttc p.L286F NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 286 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TCAGCTCCTCCTCCAGGAGAA 0.572000 19 62 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119548271 119548271 + Missense_Mutation SNP C C G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:119548271C>G ENST00000264025.3 - 3 1257 c.727G>C c.(727-729)Gtg>Ctg p.V243L PVRL1_ENST00000340882.2_Missense_Mutation_p.V243L|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.V243L NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 243 adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) TCACACTGCACGTTGAGAGTG 0.637000 11 15 0 0 1 0 0 RASIP1 54922 broad.mit.edu 37 19 49228132 49228132 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:49228132C>A ENST00000222145.4 - 9 2417 c.2213G>T c.(2212-2214)gGg>gTg p.G738V NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 738 Dilute. signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) AGGCATGGCCCCCAGCTCCGC 0.602000 33 58 1.06801e-11 1.34871e-11 1 1 0 TSHZ3 57616 broad.mit.edu 37 19 31769415 31769415 + Silent SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:31769415C>A ENST00000240587.4 - 2 1611 c.1284G>T c.(1282-1284)acG>acT p.T428T NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 428 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GTGTGACAGGCGTCTCCACAA 0.572000 28 96 8.24728e-16 1.08767e-15 1 1 0 MDH1B 130752 broad.mit.edu 37 2 207615733 207615733 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr2:207615733C>A ENST00000374412.3 - 6 1252 c.977G>T c.(976-978)aGg>aTg p.R326M MDH1B_ENST00000449792.1_Missense_Mutation_p.R228M|MDH1B_ENST00000454776.2_Missense_Mutation_p.R326M|MDH1B_ENST00000392214.2_Intron NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 326 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity p.R326M(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TCTGTACACCCTTGTTTTTCT 0.338000 21 57 6.44725e-10 7.84018e-10 1 1 0 OR1D4 653166 broad.mit.edu 37 17 3143996 3143996 + RNA SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr17:3143996C>A ENST00000531680.1 + 0 27 NR_033795.1 olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) AGAGTGAGAACTCACAGTTCC 0.458000 13 16 3.32936e-07 3.79124e-07 1 1 0 SLITRK5 26050 broad.mit.edu 37 13 88327756 88327756 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr13:88327756C>A ENST00000325089.6 + 2 332 c.113C>A c.(112-114)gCa>gAa p.A38E SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 38 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) CTTTCGTGTGCAGAAACCATC 0.468000 33 72 1.99505e-19 2.76778e-19 1 1 0 NUMA1 4926 broad.mit.edu 37 11 71717156 71717156 + Missense_Mutation SNP A A C TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:71717156A>C ENST00000393695.3 - 22 5948 c.5617T>G c.(5617-5619)Ttg>Gtg p.L1873V NUMA1_ENST00000358965.6_Missense_Mutation_p.L1859V|NUMA1_ENST00000351960.6_Missense_Mutation_p.L737V NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1873 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TAGCCAGGCAAGCTGAGCAGG 0.632000 T RARA APL 14 67 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49248930 49248930 + Missense_Mutation SNP C C T rs147003407 byFrequency TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:49248930C>T ENST00000332955.2 - 2 734 c.187G>A c.(187-189)Gat>Aat p.D63N NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 63 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TCCTGGAAATCCTTCACGGCA 0.562000 5 90 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18021562 18021562 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr22:18021562G>A ENST00000262608.8 + 14 1856 c.1856G>A c.(1855-1857)cGa>cAa p.R619Q CECR2_ENST00000400573.4_Missense_Mutation_p.R618Q|CECR2_ENST00000400585.2_Missense_Mutation_p.R477Q NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 660 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GGCCCTCTGCGAGGATCAGAT 0.552000 10 24 0 0 1 0 0 MCAM 4162 broad.mit.edu 37 11 119183608 119183608 + Missense_Mutation SNP A A G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:119183608A>G ENST00000392814.1 - 1 1187 c.458T>C c.(457-459)tTg>tCg p.L153S MCAM_ENST00000264036.4_Missense_Mutation_p.L204S P43121 MUC18_HUMAN melanoma cell adhesion molecule 204 Ig-like V-type 2. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) AATACTCTGCAAGGTGTACAA 0.552000 16 18 0 0 1 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798590 57798590 + Nonsense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:57798590C>T ENST00000302622.3 + 1 189 c.166C>T c.(166-168)Cga>Tga p.R56* OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 56 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) TTTGGACCACCGACTACGGAG 0.478000 38 142 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 21 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12958667 12958667 + Silent SNP T T A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:12958667T>A ENST00000251472.4 + 7 609 c.570T>A c.(568-570)acT>acA p.T190T MAST1_ENST00000591495.1_Silent_p.T186T NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 190 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CGCAGGCCACTGCGCAGATGG 0.721000 OREG0025277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 3 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101910825 101910825 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr13:101910825C>A ENST00000251127.6 - 11 1316 c.1235G>T c.(1234-1236)aGg>aTg p.R412M NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R412M NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 412 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTACTGCCTCCTGAAGTTTTC 0.547000 6 23 0.0215528 0.022114 1 1 0 AHCTF1 25909 broad.mit.edu 37 1 247051502 247051502 + Missense_Mutation SNP T T A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr1:247051502T>A ENST00000366508.1 - 19 2543 c.2407A>T c.(2407-2409)Act>Tct p.T803S AHCTF1_ENST00000391829.2_Missense_Mutation_p.T768S|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T777S Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 768 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GCTGCTTCAGTAACGCCGTCT 0.333000 46 51 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116931575 116931575 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr1:116931575G>A ENST00000537345.1 + 7 1051 c.688G>A c.(688-690)Gat>Aat p.D230N ATP1A1_ENST00000369496.4_Missense_Mutation_p.D199N|ATP1A1_ENST00000295598.5_Missense_Mutation_p.D230N|ATP1A1_ENST00000491156.1_3'UTR NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 230 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) TAGGTCTCCAGATTTCACAAA 0.448000 5 87 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171323168 171323168 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr2:171323168C>A ENST00000334231.6 + 25 2988 c.2988C>A c.(2986-2988)agC>agA p.S996R MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Missense_Mutation_p.S987R|MYO3B_ENST00000408978.4_Missense_Mutation_p.S987R Q8WXR4 MYO3B_HUMAN myosin IIIB 987 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 AGACAGTCAGCATCCGCCGCC 0.527000 32 84 4.15321e-07 4.7022e-07 1 1 0 BRCA2 675 broad.mit.edu 37 13 32913546 32913546 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr13:32913546C>T ENST00000544455.1 + 11 5281 c.5054C>T c.(5053-5055)tCa>tTa p.S1685L BRCA2_ENST00000380152.3_Missense_Mutation_p.S1685L NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1685 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGTCAGACTTCATTACTTGAA 0.323000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 10 27 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169503079 169503079 + Silent SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr5:169503079C>A ENST00000256935.8 + 47 4937 c.4857C>A c.(4855-4857)gtC>gtA p.V1619V DOCK2_ENST00000520908.1_Silent_p.V1111V|DOCK2_ENST00000540750.1_Silent_p.V680V|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1619 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTACGGTGTCCGAGAGATGG 0.537000 19 51 8.28177e-16 1.08767e-15 1 1 0 BRCA2 675 broad.mit.edu 37 13 32893277 32893277 + Missense_Mutation SNP C C G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr13:32893277C>G ENST00000544455.1 + 3 358 c.131C>G c.(130-132)tCt>tGt p.S44C BRCA2_ENST00000380152.3_Missense_Mutation_p.S44C NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 44 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CCCTATAATTCTGAACCTGCA 0.333000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 5 67 0 0 1 0 0 KIR2DL4 3805 broad.mit.edu 37 19 55316317 55316317 + Missense_Mutation SNP T T C TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:55316317T>C ENST00000396284.2 + 3 140 c.140T>C c.(139-141)cTt>cCt p.L47P KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.L49P|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.L49P|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.L49P killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CACGTGACTCTTCGGTGTCAC 0.547000 29 21 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755330 140755330 + Silent SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr5:140755330C>A ENST00000517434.1 + 1 1680 c.1680C>A c.(1678-1680)ccC>ccA p.P560P PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 p.P560P(1) breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAATGCGCCCGAGATCCTGT 0.657000 80 176 9.25274e-37 1.30199e-36 1 1 0 PCDHGB2 56103 broad.mit.edu 37 5 140740624 140740624 + Missense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr5:140740624G>T ENST00000522605.1 + 1 922 c.922G>T c.(922-924)Gat>Tat p.D308Y PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATGATTTGGATTTTGAGAT 0.388000 17 14 4.7546e-09 5.60872e-09 1 1 0 USH2A 7399 broad.mit.edu 37 1 216496887 216496887 + Silent SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr1:216496887G>A ENST00000366943.2 - 8 1865 c.1479C>T c.(1477-1479)taC>taT p.Y493Y USH2A_ENST00000307340.3_Silent_p.Y493Y|USH2A_ENST00000366942.3_Silent_p.Y493Y O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 493 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAGTTGTATAGTACTGCCCAT 0.373000 HNSCC(13;0.011) 54 116 0 0 1 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 32077649 32077649 + RNA SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr16:32077649C>A ENST00000354689.6 + 0 264 RP11-1166P10.6_ENST00000566806.1_RNA GCCTGAGAGCCGAGGACACGG 0.527000 87 542 1.19347e-43 1.69147e-43 1 1 0 TEX264 51368 broad.mit.edu 37 3 51733559 51733559 + Silent SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr3:51733559G>T ENST00000415259.1 + 4 1699 c.618G>T c.(616-618)gtG>gtT p.V206V TEX264_ENST00000395057.1_Silent_p.V206V|TEX264_ENST00000341333.5_Silent_p.V206V|TEX264_ENST00000416589.1_Silent_p.V206V|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000457573.1_Silent_p.V206V Q9Y6I9 TX264_HUMAN testis expressed 264 206 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) GGGGGCTTGTGGAGGCCATTG 0.582000 21 81 2.39556e-15 3.12534e-15 1 1 0 SLC45A4 57210 broad.mit.edu 37 8 142222496 142222496 + Missense_Mutation SNP C C G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr8:142222496C>G ENST00000519067.1 - 7 2251 c.1948G>C c.(1948-1950)Gtg>Ctg p.V650L SLC45A4_ENST00000024061.3_Missense_Mutation_p.V650L|SLC45A4_ENST00000517878.1_Missense_Mutation_p.V701L|SLC45A4_ENST00000433583.2_Missense_Mutation_p.V643L Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 701 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) AAAGAGCCCACAGAGGCCACC 0.622000 11 203 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13445289 13445289 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:13445289C>A ENST00000360228.5 - 8 1100 c.1101G>T c.(1099-1101)agG>agT p.R367S CACNA1A_ENST00000573710.2_Missense_Mutation_p.R367S NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 367 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCACCCGTTCCCTTTCTTTGG 0.483000 23 21 2.21704e-12 2.83608e-12 1 1 0 CDH11 1009 broad.mit.edu 37 16 65038602 65038602 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr16:65038602C>A ENST00000394156.3 - 3 624 c.171G>T c.(169-171)tgG>tgT p.W57C CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000268603.4_Missense_Mutation_p.W57C P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 57 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AGAACTGGTTCCAGACCCAGC 0.637000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 10 23 0.000978159 0.00104161 1 1 0 ZNF335 63925 broad.mit.edu 37 20 44594372 44594372 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr20:44594372G>A ENST00000322927.2 - 7 1097 c.997C>T c.(997-999)Cgg>Tgg p.R333W ZNF335_ENST00000426788.1_Missense_Mutation_p.R178W NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CGAAGCTGCCGGCCTCGGGGC 0.657000 5 41 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56223170 56223170 + Missense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:56223170G>T ENST00000332836.2 - 8 2866 c.2839C>A c.(2839-2841)Ctg>Atg p.L947M NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 947 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ACTCACCCCAGCATCTGCAGG 0.557000 8 31 0.00448238 0.00472208 1 1 0 FRG1B 284802 broad.mit.edu 37 20 29632656 29632656 + Missense_Mutation SNP A A C TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr20:29632656A>C ENST00000278882.3 + 8 851 c.471A>C c.(469-471)aaA>aaC p.K157N FRG1B_ENST00000358464.4_Missense_Mutation_p.K157N endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAATAAGTAAAGAAGAGAGTA 0.308000 27 635 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769417 31769417 + Missense_Mutation SNP T T G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:31769417T>G ENST00000240587.4 - 2 1609 c.1282A>C c.(1282-1284)Acg>Ccg p.T428P NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 428 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GTGACAGGCGTCTCCACAATG 0.577000 28 97 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 98761945 98761945 + Nonsense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr4:98761945C>A ENST00000295268.3 - 9 1272 c.1183G>T c.(1183-1185)Gaa>Taa p.E395* STPG2_ENST00000506482.1_Intron NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 GTCACTTTTTCTAGGCACCGA 0.358000 33 79 1.22384e-17 1.66273e-17 1 1 0 THAP7-AS1 439931 broad.mit.edu 37 22 21363341 21363341 + RNA SNP T T C rs2516541 by1000genomes TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr22:21363341T>C ENST00000452284.1 + 0 1008 TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA NR_027051.1 TGTGGGGGTATGGCACCAAGT 0.592000 6 48 0 0 1 0 0 RRN3P3 100131998 broad.mit.edu 37 16 22448704 22448704 + RNA SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr16:22448704G>A ENST00000551766.1 - 0 332 NR_027460.1 GCTTGGCCATGTCGTGTCGGG 0.716000 3 9 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1207146 1207146 + Missense_Mutation SNP G G C TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:1207146G>C ENST00000326873.7 + 1 1407 c.234G>C c.(232-234)aaG>aaC p.K78N STK11_ENST00000585748.1_Intron NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 78 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCCGTCAAGATCCTCAAGA 0.612000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 7 6 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95748044 95748044 + Missense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr5:95748044G>T ENST00000311106.3 - 7 1097 c.860C>A c.(859-861)gCt>gAt p.A287D CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.A240D|PCSK1_ENST00000513085.1_5'UTR NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 287 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATATTCAAAAGCCTTCTGGGC 0.468000 23 91 1.66031e-10 2.07013e-10 1 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102483164 102483164 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr14:102483164C>T ENST00000360184.4 + 38 7840 c.7676C>T c.(7675-7677)aCg>aTg p.T2559M NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2559 AAA 3 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GAAGTGGAGACGCACAAGGTG 0.602000 3 24 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184294836 184294836 + Nonsense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr3:184294836G>T ENST00000330394.2 + 5 1671 c.1219G>T c.(1219-1221)Gag>Tag p.E407* EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 407 Fibronectin type-III 1. TER -> SEP (in Ref. 1; CAA53021). integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GGGCCTGACGGAGCGCCGGGT 0.642000 26 54 1.1804e-14 1.52986e-14 1 1 0 MYCBP2 23077 broad.mit.edu 37 13 77655608 77655608 + Missense_Mutation SNP T T C TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr13:77655608T>C ENST00000407578.2 - 65 11638 c.11372A>G c.(11371-11373)aAt>aGt p.N3791S MYCBP2_ENST00000357337.6_Missense_Mutation_p.N3753S|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N3753S NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3753 DOC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATAGCGGGCATTGATTCCTTT 0.418000 30 108 0 0 1 0 0 CDK3 1018 broad.mit.edu 37 17 73997474 73997474 + Translation_Start_Site SNP G G A rs2069528 by1000genomes TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr17:73997474G>A ENST00000425876.2 + 0 56 TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Intron Q00526 CDK3_HUMAN cyclin-dependent kinase 3 cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 CAAATTGCCCGGTGCCTTCTG 0.622000 3 28 0 0 1 0 0 LOC202181 202181 broad.mit.edu 37 5 177059206 177059206 + RNA SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr5:177059206C>A ENST00000515045.1 - 0 722 NR_026921.1 AGGTGAGGCTCTCAGTGGGCA 0.527000 12 16 2.68362e-12 3.41079e-12 1 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 4 41 0 0 1 0 0 ZNF658 26149 broad.mit.edu 37 9 40774437 40774437 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr9:40774437C>A ENST00000602553.1 - 5 1132 c.838G>T c.(838-840)Gac>Tac p.D280Y ZNF658_ENST00000377626.3_Missense_Mutation_p.D280Y|ZNF658_ENST00000441795.1_Missense_Mutation_p.D278Y Q5TYW1 ZN658_HUMAN zinc finger protein 658 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GTGGTTTTGTCACAGGATGTC 0.373000 35 132 2.77807e-22 3.88142e-22 1 1 0 OR4K2 390431 broad.mit.edu 37 14 20344655 20344655 + Missense_Mutation SNP G G A rs141210026 TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr14:20344655G>A ENST00000298642.2 + 1 265 c.229G>A c.(229-231)Gcc>Acc p.A77T NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGCTTCTTTCGCCACCCCAAA 0.418000 69 123 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83984276 83984276 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:83984276C>A ENST00000418306.2 - 1 47 c.23G>T c.(22-24)cGg>cTg p.R8L DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.R8L|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000376104.2_Intron NM_001142700.1 NP_001136172.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) ATTCTCAGCCCGAGAAACACT 0.373000 2 4 0.0784 0.0800249 1 1 0 GABPB2 126626 broad.mit.edu 37 1 151079590 151079590 + Missense_Mutation SNP G G A rs145125051 TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr1:151079590G>A ENST00000368918.3 + 7 1145 c.814G>A c.(814-816)Gtc>Atc p.V272I GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368917.1_Missense_Mutation_p.V234I|GABPB2_ENST00000368916.1_Missense_Mutation_p.V234I NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 272 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) AGGCCAGAGGGTCATCACCAT 0.443000 5 56 0 0 1 0 0 THOC6 79228 broad.mit.edu 37 16 3077211 3077211 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr16:3077211G>A ENST00000326266.8 + 11 1036 c.740G>A c.(739-741)cGa>cAa p.R247Q THOC6_ENST00000575576.1_Missense_Mutation_p.R223Q|THOC6_ENST00000574549.1_Missense_Mutation_p.R223Q|THOC6_ENST00000253952.9_Missense_Mutation_p.R247Q NM_024339.3 NP_077315.2 Q86W42 THOC6_HUMAN THO complex 6 homolog (Drosophila) 247 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 TGGCACCTCCGATCCTCCACA 0.652000 56 44 0 0 1 0 0 ZNF283 284349 broad.mit.edu 37 19 44352476 44352476 + Nonsense_Mutation SNP G G T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:44352476G>T ENST00000324461.7 + 7 2020 c.1723G>T c.(1723-1725)Gaa>Taa p.E575* ZNF283_ENST00000588797.1_Nonsense_Mutation_p.E436* NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E575*(1) endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) CAAATGTAAGGAATGTGGGAA 0.418000 10 58 0.000673444 0.000721024 1 1 0 SARS2 54938 broad.mit.edu 37 19 39421207 39421207 + Missense_Mutation SNP T T G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:39421207T>G ENST00000221431.6 - 1 329 c.170A>C c.(169-171)cAg>cCg p.Q57P SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.Q57P|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.Q57P NM_017827.3 NP_060297.1 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2, mitochondrial 57 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TATGTCCAGCTGAGGGAGTGC 0.617000 OREG0025455 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 85 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29550461 29550461 + Splice_Site SNP G G C TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr17:29550461G>C ENST00000358273.4 + 16 2104 c.e16-1 NF1_ENST00000356175.3_Splice_Site NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(5) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGTTACTGCAGCTCACAAATG 0.348000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 12 46 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115609591 115609591 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr10:115609591C>T ENST00000361384.2 - 2 2190 c.1273G>A c.(1273-1275)Gca>Aca p.A425T DCLRE1A_ENST00000369305.1_Missense_Mutation_p.A425T NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 425 Nuclear focus formation. cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) GCTTTAGTTGCCTGATGAACA 0.398000 Other identified genes with known or suspected DNA repair function 15 29 0 0 1 0 0 XRRA1 143570 broad.mit.edu 37 11 74556213 74556213 + Missense_Mutation SNP C C G TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:74556213C>G ENST00000340360.6 - 16 2139 c.1808G>C c.(1807-1809)cGg>cCg p.R603P XRRA1_ENST00000321448.8_Missense_Mutation_p.R328P|XRRA1_ENST00000527087.1_Missense_Mutation_p.R516P NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 603 response to X-ray cytoplasm|nucleus breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 GAGTTTCCTCCGAGTCCCTTT 0.502000 24 39 0 0 1 0 0 CD83 9308 broad.mit.edu 37 6 14135362 14135362 + Silent SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr6:14135362C>T ENST00000379153.3 + 5 684 c.513C>T c.(511-513)atC>atT p.I171I NM_001040280.1|NM_001251901.1|NM_004233.3 NP_001035370.1|NP_001238830.1|NP_004224.1 Q01151 CD83_HUMAN CD83 molecule 171 defense response|humoral immune response|signal transduction integral to plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 12 Breast(50;0.00245)|Ovarian(93;0.137) all_hematologic(90;0.117) TACAGAGTATCTTCCCAGATT 0.398000 9 88 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65155440 65155440 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr4:65155440G>A ENST00000381210.3 - 9 930 c.820C>T c.(820-822)Ccc>Tcc p.P274S TECRL_ENST00000507440.1_Missense_Mutation_p.P274S NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 274 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 GTGTGATTGGGATGAGACAAC 0.274000 9 24 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41313190 41313190 + Missense_Mutation SNP C C A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr15:41313190C>A ENST00000361937.3 - 26 3606 c.3182G>T c.(3181-3183)tGg>tTg p.W1061L INO80_ENST00000401393.3_Missense_Mutation_p.W1061L|RP11-540O11.4_ENST00000558967.1_RNA Q9ULG1 INO80_HUMAN INO80 complex subunit 1061 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TCTATTTAGCCAGTCTGCAGC 0.527000 4 43 0.00909568 0.00948068 1 1 0 LILRP2 79166 broad.mit.edu 37 19 55221926 55221926 + RNA SNP G G A rs146908906 by1000genomes TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:55221926G>A ENST00000413439.1 + 0 1453 CGGTGCAGCCGGGCCCCACGG 0.642000 9 51 0 0 1 0 0 PDZD3 79849 broad.mit.edu 37 11 119056968 119056968 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr11:119056968C>T ENST00000531114.1 + 2 646 c.97C>T c.(97-99)Ctc>Ttc p.L33F PDZD3_ENST00000525131.1_Intron|PDZD3_ENST00000392817.2_Missense_Mutation_p.L33F|PDZD3_ENST00000355547.5_Intron|PDZD3_ENST00000322712.4_Intron Q86UT5 NHRF4_HUMAN PDZ domain containing 3 33 cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) CTCACTCGGTCTCCCTCTGAT 0.607000 14 14 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150772562 150772563 + Frame_Shift_Ins INS - - GGGTGACGGGGCT TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr7:150772562_150772563insGGGTGACGGGGCT ENST00000485713.1 + 20 4308_4309 c.3268_3269insGGGTGACGGGGCT c.(3268-3270)ggtfs p.-1090fs SLC4A2_ENST00000461735.1_Frame_Shift_Ins_p.-1076fs|SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.-1090fs|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.-1008fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.-1081fs NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAAGGAGCAGCGGGTGACGGGG 0.634 13 125 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88767686 88767686 + RNA DEL T T - rs71019446 TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr10:88767686delT ENST00000444431.1 + 0 2711 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AAAATGTATCttttttttttt 0.413 2 4 --- --- --- --- SERPINA13P 388007 broad.mit.edu 37 14 95107787 95107787 + RNA DEL C C - TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr14:95107787delC ENST00000469935.1 + 0 392 NR_015340.1 GCCTGCCCTGCCCTGCCACAA 0.562 5 7 --- --- --- --- RP11-51L5.5 0 broad.mit.edu 37 17 60366593 60366594 + RNA INS - - A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr17:60366593_60366594insA ENST00000602493.1 - 0 430 GTTGAGAGAAGAAAAAAAAAAG 0.272 2 4 --- --- --- --- KLK8 11202 broad.mit.edu 37 19 51499350 51499350 + Frame_Shift_Del DEL C C - TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bb9b619-af7b-4319-8ed9-9c39a752292f 92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad g.chr19:51499350delC ENST00000600767.1 - 7 1237 c.748delG c.(748-750)acfs p.D250fs KLK8_ENST00000291726.7_Frame_Shift_Del_p.D250fs|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000593490.1_3'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Frame_Shift_Del_p.D109fs|KLK8_ENST00000391806.2_Frame_Shift_Del_p.D295fs|KLK8_ENST00000320838.5_3'UTR O60259 KLK8_HUMAN kallikrein-related peptidase 8 250 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) TTGATCCAGTCCAGGTAGCGG 0.527 41 151 --- --- --- ---