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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut FAM192A 80011 broad.mit.edu 37 16 57188296 57188296 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:57188296G>A uc021tiy.1 - 6 930 c.671C>T c.(670-672)tCc>tTc p.S224F FAM192A_uc021tix.1_Non-coding_Transcript NM_024946 NP_079222 Q9GZU8 F192A_HUMAN Homo sapiens family with sequence similarity 192, member A (FAM192A), mRNA. 224 nucleus endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 GCTGGACTCGGAGTCGCTGCT 0.597000 11 11 0 0 0.000978159 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30862917 30862917 + Missense_Mutation SNP C G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:30862917C>G uc001rji.1 - 17 4054 c.3303G>C c.(3301-3303)tgG>tgC p.W1101C CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Missense_Mutation_p.W768C|CAPRIN2_uc001rjh.1_Missense_Mutation_p.W1051C|CAPRIN2_uc001rjk.4_3'UTR|CAPRIN2_uc001rjj.1_Missense_Mutation_p.W767C|CAPRIN2_uc001rjl.4_3'UTR NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA. 1101 C1q. negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex RNA binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GCAGACGTAACCATATCTGGT 0.428000 25 15 0 0 0.000219431 0 0 CEACAM1 634 broad.mit.edu 37 19 43031325 43031325 + Nonsense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:43031325G>A uc002otv.3 - 1 427 c.292C>T c.(292-294)Cga>Tga p.R98* AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eij.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002otw.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002otx.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002oty.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002otz.3_Nonsense_Mutation_p.R98*|CEACAM1_uc010eik.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002oua.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002oub.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002ouc.3_Nonsense_Mutation_p.R98* NM_001712 NP_001703 P13688 CEAM1_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA. 98 Ig-like V-type. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction p.G97C(1)|p.G97S(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) ATTGTCTCTCGACCGCTGTTT 0.483000 77 47 0 0 0.000781405 0 0 BAZ2B 29994 broad.mit.edu 37 2 160289424 160289425 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:160289424_160289425GG>AA uc002uao.3 - 8 2148_2149 c.1743_1744CC>TT c.(1741-1746)tcccat>tcTTat p.H582Y BAZ2B_uc002uap.3_Missense_Mutation_p.H580Y|BAZ2B_uc002uas.1_Missense_Mutation_p.H519Y|BAZ2B_uc002uaq.1_Missense_Mutation_p.H510Y|BAZ2B_uc002uar.1_Missense_Mutation_p.H155Y NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA. 582 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TTTGCAGGATGGGAGTGATGCT 0.416000 56 24 0 0 6.4e-05 0 0 C4orf33 132321 broad.mit.edu 37 4 130032905 130032906 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:130032905_130032906CC>TT uc003igu.4 + 5 923_924 c.559_560CC>TT c.(559-561)ccg>TTg p.P187L C4orf33_uc010iod.3_Missense_Mutation_p.P187L NM_173487 NP_775758 Q8N1A6 CD033_HUMAN Homo sapiens chromosome 4 open reading frame 33 (C4orf33), transcript variant 1, mRNA. 187 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 10 GTGGAAACAACCGGAATCAGAC 0.342000 13 8 0 0 6.4e-05 0 0 LRIG1 26018 broad.mit.edu 37 3 66430815 66430815 + Missense_Mutation SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:66430815C>A uc003dmx.3 - 18 3168 c.3154G>T c.(3154-3156)Gcc>Tcc p.A1052S SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_Missense_Mutation_p.A672S|LRIG1_uc003dmw.3_Missense_Mutation_p.A718S|LRIG1_uc010hnz.3_Missense_Mutation_p.A768S|LRIG1_uc010hoa.3_Missense_Mutation_p.A1029S NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA. 1052 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) AAGTACTGGGCTTCCGCGCGC 0.567000 49 43 2.24893e-16 1.61382e-15 0.000437636 1 0 COL19A1 1310 broad.mit.edu 37 6 70859924 70859924 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:70859924C>T uc003pfc.1 + 29 2141 c.2024C>T c.(2023-2025)cCc>cTc p.P675L COL19A1_uc010kam.2_Missense_Mutation_p.P571L NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 675 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CTGCCAGGCCCCCCAGGTGAC 0.488000 17 15 0 0 0.000422831 0 0 PPP1R1B 84152 broad.mit.edu 37 17 37791980 37791980 + Splice_Site SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:37791980G>A uc002hrz.3 + 6 1034 c.565_splice c.e6+1 p.E189_splice PPP1R1B_uc010cvx.3_Splice_Site_p.E156_splice|PPP1R1B_uc002hsb.3_Splice_Site_p.E153_splice|PPP1R1B_uc002hsc.3_Splice_Site_p.E153_splice|STARD3_uc010weg.2_5'Flank|STARD3_uc010wei.2_5'Flank|STARD3_uc002hsd.3_5'Flank|STARD3_uc002hse.3_5'Flank|STARD3_uc010weh.2_5'Flank NM_032192 NP_852606 Q9UD71 PPR1B_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA. 189 signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity kidney(1)|large_intestine(1)|liver(1)|lung(2) 5 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GCACTAAGTGGTAAGGCTTGG 0.637000 22 22 0 0 0.000586117 0 0 BEND6 221336 broad.mit.edu 37 6 56846633 56846633 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:56846633G>A uc010kab.3 + 1 611 c.25G>A c.(25-27)Gaa>Aaa p.E9K BEND6_uc003pdg.2_Non-coding_Transcript NM_152731 NP_689944 Q5SZJ8 BEND6_HUMAN Homo sapiens BEN domain containing 6 (BEND6), mRNA. 9 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 GCAGACAGATGAAATTACCAA 0.378000 60 41 0 0 0.000437636 0 0 NLRP3 114548 broad.mit.edu 37 1 247588892 247588892 + Missense_Mutation SNP G C C TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:247588892G>C uc001icr.3 + 4 2285 c.2147G>C c.(2146-2148)tGt>tCt p.C716S NLRP3_uc001ics.3_Missense_Mutation_p.C716S|NLRP3_uc001icu.3_Missense_Mutation_p.C716S|NLRP3_uc001icw.3_Missense_Mutation_p.C716S|NLRP3_uc001icv.3_Missense_Mutation_p.C716S|NLRP3_uc010pyw.2_Missense_Mutation_p.C714S|NLRP3_uc001ict.1_Missense_Mutation_p.C714S NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 716 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CATGCTGCCTGTTCTCATGGG 0.522000 41 10 0 0 0.000978159 0 0 OR10A6 390093 broad.mit.edu 37 11 7949881 7949881 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:7949881G>A uc010rbh.2 - 0 329 c.329C>T c.(328-330)gCt>gTt p.A110V NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAAACATTCAGCCCCACCAAA 0.388000 8 4 0 0 0.00024832 0 0 SYT10 341359 broad.mit.edu 37 12 33538203 33538203 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:33538203G>A uc001rll.1 - 3 1398 c.1101C>T c.(1099-1101)atC>atT p.I367I SYT10_uc009zju.1_Silent_p.I177I NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 367 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GGGAAAACATGATTTCACCCA 0.398000 7 5 0 0 8.12818e-05 0 0 SNCB 6620 broad.mit.edu 37 5 176053500 176053500 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:176053500C>T uc010jke.1 - 1 778 c.384G>A c.(382-384)agG>agA p.R128R SNCB_uc021yij.1_Missense_Mutation_p.E61K|SNCB_uc003mep.3_Missense_Mutation_p.E61K|SNCB_uc003meq.3_Missense_Mutation_p.E61K|SNCB_uc021yig.1_Missense_Mutation_p.E47K|SNCB_uc021yih.1_Missense_Mutation_p.E61K|SNCB_uc021yii.1_Missense_Mutation_p.E47K Q16143 SYUB_HUMAN Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA. 0 calcium ion binding|phospholipase inhibitor activity breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 10 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGGCCTGTTCCTTGGTTTTT 0.582000 7 12 0 0 0.00136819 0 0 SNX14 57231 broad.mit.edu 37 6 86281875 86281876 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:86281875_86281876CC>TT uc003pkr.3 - 3 589_590 c.396_397GG>AA c.(394-399)aaggtt>aaAAtt p.V133I SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.V81I|SNX14_uc003pks.3_Missense_Mutation_p.V133I|SNX14_uc003pkt.3_Missense_Mutation_p.V133I NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA. 133 PXA. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) GATGCATCAACCTTGGAAGAAA 0.302000 65 37 0 0 6.4e-05 0 0 HSPA8 3312 broad.mit.edu 37 11 122930895 122930895 + Missense_Mutation SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:122930895C>A uc001pyo.3 - 3 628 c.493G>T c.(493-495)Gct>Tct p.A165S HSPA8_uc009zbc.3_5'UTR|HSPA8_uc001pyp.3_Missense_Mutation_p.A165S|HSPA8_uc010rzu.2_Missense_Mutation_p.A88S|HSPA8_uc009zbd.2_Missense_Mutation_p.A165S|HSPA8_uc010rzv.1_Missense_Mutation_p.A165S NM_006597 NP_006588 P11142 HSP7C_HUMAN Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA. 165 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TTGAGACCAGCAATAGTTCCA 0.423000 60 6 0.00116845 0.00809969 0.00116845 1 0 ANKRD17 26057 broad.mit.edu 37 4 73968111 73968111 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:73968111C>T uc003hgp.3 - 24 4672 c.4555G>A c.(4555-4557)Gaa>Aaa p.E1519K ANKRD17_uc003hgo.3_Missense_Mutation_p.E1406K|ANKRD17_uc003hgq.3_Missense_Mutation_p.E1268K|ANKRD17_uc003hgr.3_Missense_Mutation_p.E1518K NM_032217 NP_115593 O75179 ANR17_HUMAN Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA. 1519 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTAAGCTTTTCTTTTTCTTGA 0.299000 32 21 0 0 0.00047179 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43654012 43654013 + Missense_Mutation DNP GC AT AT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:43654012_43654013GC>AT uc001zrk.1 - 4 1964_1965 c.1817_1818GC>AT c.(1816-1818)ggc>gAT p.G606D ZSCAN29_uc001zrj.1_Missense_Mutation_p.G486D|ZSCAN29_uc010bdg.1_Missense_Mutation_p.G216D|ZSCAN29_uc010bdf.1_Missense_Mutation_p.A535I|ZSCAN29_uc001zrl.1_Non-coding_Transcript NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA. 606 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 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;8.97e-07) CACTCTCATTGCCTTTACCCTG 0.436000 60 34 0 0 6.4e-05 0 0 CDK11B 984 broad.mit.edu 37 1 1572329 1572330 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:1572329_1572330GG>AA uc001agv.1 - 16 1806_1807 c.1723_1724CC>TT c.(1723-1725)cct>TTt p.P575F CDK11B_uc009vkj.2_Missense_Mutation_p.P234F|CDK11B_uc001ags.1_Missense_Mutation_p.P435F|CDK11B_uc001agt.1_Missense_Mutation_p.P360F|CDK11B_uc001aha.1_Missense_Mutation_p.P541F|CDK11B_uc001agw.1_Missense_Mutation_p.P525F|CDK11B_uc001agy.1_Missense_Mutation_p.P568F|CDK11B_uc001agx.1_Missense_Mutation_p.P559F|CDK11B_uc001agz.1_Missense_Mutation_p.P321F NM_033486 NP_277021 P21127 CD11B_HUMAN Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA. 590 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 GGCCTTCAGAGGGGATCCGTAC 0.683000 15 8 0 0 6.4e-05 0 0 PTCH1 5727 broad.mit.edu 37 9 98231241 98231241 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr9:98231241G>A uc004avk.4 - 13 2230 c.2042C>T c.(2041-2043)cCg>cTg p.P681L PTCH1_uc010mro.3_Missense_Mutation_p.P530L|PTCH1_uc010mrp.3_Missense_Mutation_p.P530L|PTCH1_uc010mrq.3_Missense_Mutation_p.P530L|PTCH1_uc004avl.4_Missense_Mutation_p.P530L|PTCH1_uc004avm.4_Missense_Mutation_p.P680L|PTCH1_uc010mrr.3_Missense_Mutation_p.P615L|LOC100507346_uc022bkm.1_Non-coding_Transcript|PTCH1_uc010mrs.1_Missense_Mutation_p.P349L NM_000264 NP_001077076 Q13635 PTC1_HUMAN Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA. 681 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.P681L(5)|p.P680L(2)|p.E680*(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CTCGGAGCGCGGCTCAGCGGT 0.622000 6 37 0 0 0.00111076 0 0 SLC26A7 115111 broad.mit.edu 37 8 92364064 92364064 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:92364064C>T uc003yez.3 + 9 1406 c.1167C>T c.(1165-1167)ttC>ttT p.F389F SLC26A7_uc003yex.3_Silent_p.F389F|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.F389F NM_134266 NP_599028 Q8TE54 S26A7_HUMAN Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA. 389 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) CTTGCATTTTCGTCCTTATAG 0.353000 24 36 0 0 0.000680045 0 0 CSNK2A2 1459 broad.mit.edu 37 16 58220709 58220709 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:58220709G>A uc002enc.3 - 2 410 c.268C>T c.(268-270)Cgt>Tgt p.R90C NM_001896 NP_001887 P19784 CSK22_HUMAN Homo sapiens casein kinase 2, alpha prime polypeptide (CSNK2A2), mRNA. 90 Protein kinase. Wnt receptor signaling pathway|axon guidance cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 GTTCCACCACGAAGGTTCTCC 0.413000 38 27 0 0 0.00178596 0 0 GRM6 2916 broad.mit.edu 37 5 178413290 178413290 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:178413290G>A uc003mjr.3 - 7 2144 c.1965C>T c.(1963-1965)ctC>ctT p.L655L GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.L238L|GRM6_uc003mjs.1_Silent_p.L275L NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 655 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GGCCCAGGAAGAGCCTGCGGG 0.637000 6 11 0 0 0.000978159 0 0 RNF214 257160 broad.mit.edu 37 11 117150915 117150915 + Nonsense_Mutation SNP T G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:117150915T>G uc001pqt.3 + 7 1130 c.1085T>G c.(1084-1086)tTa>tGa p.L362* RNF214_uc001pqu.3_Nonsense_Mutation_p.L362*|RNF214_uc010rxf.2_Nonsense_Mutation_p.L207* NM_207343 NP_997226 Q8ND24 RN214_HUMAN Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA. 362 zinc ion binding p.E361*(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) CGGAAAGAGTTACTGGTACTG 0.368000 49 21 0 0 0.000586117 0 0 RNF213 57674 broad.mit.edu 37 17 78319648 78319648 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:78319648C>T uc002jyh.2 + 29 7803 c.7660C>T c.(7660-7662)Cat>Tat p.H2554Y RNF213_uc021uen.1_Missense_Mutation_p.H2505Y NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN SubName: Full=Uncharacterized protein; 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCTGTGTGATCATATGGTGGA 0.478000 46 43 0 0 0.000589545 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455461 187455461 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:187455461G>A uc003izd.1 - 1 453 c.435C>T c.(433-435)ctC>ctT p.L145L NM_005958 NP_005949 P48039 MTR1A_HUMAN Homo sapiens melatonin receptor 1A (MTNR1A), mRNA. 145 G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GCACGTAGCAGAGGGAGTTCT 0.572000 22 9 0 0 0.000274275 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553523 140553523 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:140553523G>A uc003lit.3 + 0 1281 c.1107G>A c.(1105-1107)agG>agA p.R369R NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 369 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGTTTTTAGGATTAGAGACA 0.463000 23 13 0 0 0.000219431 0 0 WDR69 164781 broad.mit.edu 37 2 228783561 228783561 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:228783561G>A uc002vpn.1 + 10 1118 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K WDR69_uc010zlw.1_Missense_Mutation_p.E332K|WDR69_uc002vpo.1_Non-coding_Transcript NM_178821 NP_849143 Q8N136 WDR69_HUMAN Homo sapiens WD repeat domain 69 (WDR69), mRNA. 347 breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) TCATGAAGGTGAAATTTCAAA 0.408000 28 27 0 0 0.000409698 0 0 FNIP2 57600 broad.mit.edu 37 4 159790132 159790132 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:159790132C>T uc003iqe.4 + 12 2527 c.2344C>T c.(2344-2346)Cgg>Tgg p.R782W NM_020840 NP_065891 Q9P278 FNIP2_HUMAN Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA. 782 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) TCCTCAGAATCGGCTTTCAGA 0.547000 30 22 0 0 0.000295444 0 0 MAEL 84944 broad.mit.edu 37 1 166963267 166963267 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:166963267G>A uc001gdy.1 + 4 555 c.484G>A c.(484-486)Gaa>Aaa p.E162K MAEL_uc021peh.1_Missense_Mutation_p.E106K|MAEL_uc001gdz.1_Missense_Mutation_p.E131K|MAEL_uc009wvf.1_Non-coding_Transcript NM_032858 NP_116247 Q96JY0 MAEL_HUMAN Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA. 162 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TATTATAGGTGAAATTCCACG 0.348000 17 23 0 0 0.00047179 0 0 SLC8A2 6543 broad.mit.edu 37 19 47935677 47935677 + Silent SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:47935677C>A uc010ele.3 - 7 2152 c.2136G>T c.(2134-2136)ggG>ggT p.G712G SLC8A2_uc002pgx.3_Silent_p.G712G|SLC8A2_uc010xyq.2_Silent_p.G468G|SLC8A2_uc010xyr.2_Silent_p.G175G Q9UPR5 NAC2_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA. 712 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCTCCCGGGACCCGTCCTCCT 0.612000 34 20 2.52088e-20 1.81907e-19 0.000375601 1 0 GIF 2694 broad.mit.edu 37 11 59610057 59610057 + Splice_Site SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:59610057C>T uc001noi.3 - 4 419 c.371_splice c.e4-1 p.S124_splice GIF_uc010rkz.1_3'UTR NM_005142 NP_005133 P27352 IF_HUMAN Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA. 124 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 GCGTTGGGGCCTCCGAAGGGG 0.517000 11 9 0 0 0.000274275 0 0 CACNA1B 774 broad.mit.edu 37 9 140991032 140991032 + Silent SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr9:140991032C>A uc004cog.3 + 35 5330 c.5185C>A c.(5185-5187)Cgg>Agg p.R1729R CACNA1B_uc022bqn.1_Silent_p.R1729R|CACNA1B_uc004coi.3_Silent_p.R943R|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Intron NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 1731 EF-hand. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGAGTTCATCCGGGTCTGGGC 0.562000 34 4 0.000602214 0.00421224 0.000602214 1 0 AGPHD1 123688 broad.mit.edu 37 15 78819883 78819883 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:78819883C>T uc010unc.2 + 3 752 c.639C>T c.(637-639)acC>acT p.T213T AGPHD1_uc002bdt.3_Silent_p.T213T|AGPHD1_uc010ble.3_Silent_p.T213T NM_001013619 NP_001013641 A2RU49 AGPD1_HUMAN Homo sapiens aminoglycoside phosphotransferase domain containing 1 (AGPHD1), transcript variant 1, mRNA. 213 cytoplasm kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 AAGTAATGACCAAATTAAGTC 0.368000 95 18 0 0 0.00152264 0 0 DBN1 1627 broad.mit.edu 37 5 176895126 176895126 + Missense_Mutation SNP A G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:176895126A>G uc003mgx.2 - 3 526 c.244T>C c.(244-246)Tac>Cac p.Y82H DBN1_uc003mgy.2_Missense_Mutation_p.Y80H|DBN1_uc010jkn.1_5'UTR|DBN1_uc003mgz.1_Missense_Mutation_p.Y17H NM_080881 NP_543157 Q16643 DREB_HUMAN Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA. 80 ADF-H. actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATGAGCACGTATTTTGGCAGA 0.612000 105 76 0 0 0.000781405 0 0 DSG3 1830 broad.mit.edu 37 18 29039894 29039894 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr18:29039894G>A uc002kws.3 + 5 713 c.604G>A c.(604-606)Gaa>Aaa p.E202K NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 202 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGTCTCTCAGGAACCAGCAGG 0.458000 15 11 0 0 0.00136819 0 0 HSPG2 3339 broad.mit.edu 37 1 22183635 22183635 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:22183635G>A uc009vqd.3 - 43 5491 c.5451C>T c.(5449-5451)acC>acT p.T1817T HSPG2_uc001bfj.3_Silent_p.T1816T NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 1816 Ig-like C2-type 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCATGGCTCGGGTGGGCAGTT 0.612000 48 34 0 0 0.000374591 0 0 SETBP1 26040 broad.mit.edu 37 18 42531392 42531392 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr18:42531392C>T uc010dni.3 + 3 2383 c.2087C>T c.(2086-2088)cCa>cTa p.P696L NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 696 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAAGCTCCCCCAGAGACCAGC 0.488000 Schinzel-Giedion syndrome 13 5 0 0 0.00116845 0 0 ANK2 287 broad.mit.edu 37 4 114279687 114279687 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:114279687C>T uc003ibe.4 + 37 10013 c.9913C>T c.(9913-9915)Cct>Tct p.P3305S ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P3320S NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 3272 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATCCAAAATTCCTGTAAGGAC 0.428000 16 17 0 0 0.000422831 0 0 UNC5A 90249 broad.mit.edu 37 5 176301449 176301449 + Missense_Mutation SNP G T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:176301449G>T uc003mey.3 + 7 1452 c.1260G>T c.(1258-1260)gaG>gaT p.E420D UNC5A_uc010jkg.1_Missense_Mutation_p.E380D NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA. 420 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGAGGCCGAGGAGTTCGTCT 0.667000 38 32 9.8876e-21 7.14822e-20 0.000953801 1 0 FSTL5 56884 broad.mit.edu 37 4 162421234 162421234 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:162421234C>T uc003iqh.3 - 11 1828 c.1392G>A c.(1390-1392)gtG>gtA p.V464V FSTL5_uc003iqi.3_Silent_p.V463V|FSTL5_uc010iqv.3_Silent_p.V454V NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 464 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TGGGTTGTATCACTTTGATTC 0.318000 18 6 0 0 0.00116845 0 0 TEX15 56154 broad.mit.edu 37 8 30703654 30703654 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:30703654G>A uc003xil.3 - 0 2880 c.2880C>T c.(2878-2880)tcC>tcT p.S960S NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 960 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTCGTCCTTGGGATAATGAAG 0.343000 36 49 0 0 0.000781405 0 0 C10orf71 118461 broad.mit.edu 37 10 50531295 50531295 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr10:50531295C>T uc021pqb.1 + 0 705 c.705C>T c.(703-705)ttC>ttT p.F235F C10orf71_uc021pqa.1_Silent_p.F234F|C10orf71_uc021pqc.1_Silent_p.F235F NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 235 endometrium(1) 1 CCAGCAGCTTCCTCCCAGCAG 0.567000 0 10 0 0 0.000673444 0 0 CANT1 124583 broad.mit.edu 37 17 76989811 76989811 + Missense_Mutation SNP C G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:76989811C>G uc002jwj.3 - 3 1522 c.1027G>C c.(1027-1029)Ggc>Cgc p.G343R CANT1_uc002jwn.3_Missense_Mutation_p.G343R|CANT1_uc002jwk.3_Missense_Mutation_p.G343R|CANT1_uc002jwl.2_Intron NM_138793 NP_620148 Q8WVQ1 CANT1_HUMAN Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA. 343 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GACGAGAAGCCGTGAGTGGGG 0.632000 T ETV4 prostate 21 16 0 0 0.000566183 0 0 CATSPER2P1 440278 broad.mit.edu 37 15 44028891 44028891 + RNA SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:44028891G>A uc001zss.3 - 3 c.890C>T Homo sapiens cation channel, sperm associated 2 pseudogene 1 (CATSPER2P1), non-coding RNA. AATGATTGATGTTTAGTTTTA 0.338000 5 4 0 0 0.00024832 0 0 abParts 0 broad.mit.edu 37 22 22663086 22663087 + RNA DNP TA GG GG rs1054158 by1000genomes TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:22663086_22663087TA>GG uc021wml.1 + 30 c.2444_2445TA>GG abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript Parts of antibodies, mostly variable regions. AGCTGCCACATAAGTTGTCCTT 0.302000 34 5 0 0 6.4e-05 0 0 GOLIM4 27333 broad.mit.edu 37 3 167745580 167745580 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:167745580G>A uc011bpe.1 - 11 1906 c.1562C>T c.(1561-1563)cCa>cTa p.P521L GOLIM4_uc003ffe.2_Missense_Mutation_p.P520L|GOLIM4_uc011bpf.1_Missense_Mutation_p.P493L|GOLIM4_uc011bpg.1_Missense_Mutation_p.P492L NM_014498 NP_055313 O00461 GOLI4_HUMAN Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA. 520 Glu-rich. transport Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus p.G521V(1) breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TCTATTACCTGGATCTCCTTC 0.458000 115 37 0 0 0.000781405 0 0 SCAMP5 192683 broad.mit.edu 37 15 75310792 75310792 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:75310792G>A uc002azn.2 + 5 640 c.453G>A c.(451-453)acG>acA p.T151T SCAMP5_uc002azl.2_Silent_p.T143T|SCAMP5_uc002azm.2_Silent_p.T143T|SCAMP5_uc002azk.2_Silent_p.T143T|SCAMP5_uc010uly.2_Silent_p.T72T NM_138967 NP_620417 Q8TAC9 SCAM5_HUMAN Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA. 143 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 TCTTCGGAACGAACATTGGCT 0.592000 63 153 0 0 0.000781405 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911218 230911218 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:230911218G>A uc002vqd.2 - 3 1083 c.624C>T c.(622-624)ctC>ctT p.L208L FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.L208L|SLC16A14_uc002vqf.3_Silent_p.L208L NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 208 integral to membrane|plasma membrane symporter activity p.A207A(2) NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) GGGGCCTCATGAGCGCCCCAC 0.552000 40 15 0 0 0.000308642 0 0 GRM6 2916 broad.mit.edu 37 5 178418561 178418561 + Splice_Site SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:178418561C>T uc003mjr.3 - 3 901 c.722_splice c.e3-1 p.G241_splice GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 241 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CAGACCCCCCCTGGGCGTTGG 0.617000 33 26 0 0 0.000878237 0 0 ZNF195 7748 broad.mit.edu 37 11 3381483 3381483 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:3381483G>A uc001lxt.3 - 5 937 c.755C>T c.(754-756)tCc>tTc p.S252F ZNF195_uc010qxr.2_Missense_Mutation_p.S233F|ZNF195_uc009ydz.3_Missense_Mutation_p.S207F|ZNF195_uc001lxu.3_Missense_Mutation_p.S184F|ZNF195_uc001lxv.3_Missense_Mutation_p.S229F|ZNF195_uc021qck.1_Missense_Mutation_p.S184F|ZNF195_uc001lxs.3_Missense_Mutation_p.S180F NM_001130520 NP_001123992 O14628 ZN195_HUMAN Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA. 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) CATTTGAAAGGATTTGCCACA 0.308000 22 15 0 0 0.00074312 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872921 51872921 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:51872921C>T uc002xwo.3 + 1 3811 c.2924C>T c.(2923-2925)tCg>tTg p.S975L TSHZ2_uc021wex.1_Missense_Mutation_p.S972L NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 975 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TCCCGGGTATCGTCGGCTCAG 0.493000 35 13 0 0 0.000151284 0 0 CCDC126 90693 broad.mit.edu 37 7 23682705 23682705 + Nonsense_Mutation SNP A T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:23682705A>T uc003swn.3 + 3 739 c.394A>T c.(394-396)Aga>Tga p.R132* CCDC126_uc003swl.3_Nonsense_Mutation_p.R132*|CCDC126_uc003swm.3_Nonsense_Mutation_p.R132* NM_138771 NP_620126 Q96EE4 CC126_HUMAN Homo sapiens coiled-coil domain containing 126 (CCDC126), mRNA. 132 extracellular region endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1) 7 CACAAATAAAAGAACGAATGT 0.423000 28 5 0 0 0.000602214 0 0 VWC2L 402117 broad.mit.edu 37 2 215279272 215279272 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:215279272C>T uc002vet.2 + 1 485 c.355C>T c.(355-357)Cac>Tac p.H119Y VWC2L_uc010zjl.1_Missense_Mutation_p.H119Y NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA. 119 VWFC 2. extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 CTGTGAATATCACGGGAAAAA 0.373000 8 14 0 0 0.000151284 0 0 DDX11L9 100288486 broad.mit.edu 37 1 13418 13418 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:13418G>A uc010nxq.1 + 2 497 c.181G>A c.(181-183)Gag>Aag p.E61K DDX11L9_uc001aaa.3_Non-coding_Transcript|DDX11L9_uc010nxr.1_Non-coding_Transcript SubName: Full=DEAD/H box polypeptide 11 like 9; CCACCACCCCGAGATCACATT 0.562000 7 5 0 0 0.000157383 0 0 GSTT1 2952 broad.mit.edu 37 22 24376964 24376964 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:24376964G>A uc002zze.4 - 3 439 c.386C>T c.(385-387)tCt>tTt p.S129F GSTT1_uc010gug.3_Non-coding_Transcript|GSTT1_uc011ajl.2_Missense_Mutation_p.S11F|GSTT1_uc010guh.3_Intron NM_000853 NP_000844 P30711 GSTT1_HUMAN Homo sapiens glutathione S-transferase theta 1 (GSTT1), mRNA. 129 GST C-terminal. glutathione metabolic process cytosol|soluble fraction glutathione peroxidase activity|glutathione transferase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1) 6 Glutathione(DB00143) TGTCTGGGGAGATACTGGCTC 0.542000 Myelodysplasia and Acute Myeloid Leukemia (AML), Familial 61 22 0 0 0.00047179 0 0 DSCAM 1826 broad.mit.edu 37 21 41710220 41710220 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr21:41710220G>A uc002yyq.1 - 7 2043 c.1591C>T c.(1591-1593)Ccg>Tcg p.P531S DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 531 Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GAGTAATACGGATAGCCAATC 0.438000 37 15 0 0 0.000308642 0 0 FARS2 10667 broad.mit.edu 37 6 5431349 5431349 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:5431349G>A uc010jnv.1 + 3 1184 c.848G>A c.(847-849)gGa>gAa p.G283E FARS2_uc003mwr.2_Missense_Mutation_p.G283E NM_006567 NP_006558 O95363 SYFM_HUMAN Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA. 283 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding p.G283E(2) endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) AACTTTCATGGAGAATGGCTG 0.418000 50 50 0 0 0.000781405 0 0 DOCK3 1795 broad.mit.edu 37 3 51370636 51370636 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:51370636C>T uc011bds.2 + 34 3586 c.3563C>T c.(3562-3564)tCc>tTc p.S1188F NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 1188 DHR-2. cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) ACCGGCATTTCCTTTGTGACC 0.532000 39 52 0 0 0.000781405 0 0 AFF1 4299 broad.mit.edu 37 4 88035744 88035744 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:88035744C>T uc011ccz.2 + 11 2034 c.1759C>T c.(1759-1761)Ccc>Tcc p.P587S AFF1_uc003hqj.4_Missense_Mutation_p.P580S|AFF1_uc003hqk.4_Missense_Mutation_p.P580S|AFF1_uc011cda.2_Missense_Mutation_p.P218S NM_001166693 NP_001160165 P51825 AFF1_HUMAN Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA. 580 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) AGCCCCCCACCCCGGAAAGAG 0.597000 5 12 0 0 0.000151284 0 0 PSG5 5673 broad.mit.edu 37 19 43679476 43679476 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:43679476C>T uc002ovu.3 - 3 986 c.855G>A c.(853-855)aaG>aaA p.K285K PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.K285K NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 285 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GGATAGAGAGCTTTTGTCCTG 0.453000 50 35 0 0 0.000692331 0 0 ZMAT3 64393 broad.mit.edu 37 3 178742978 178742978 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:178742978G>A uc003fjg.3 - 5 1028 c.697C>T c.(697-699)Cca>Tca p.P233S ZMAT3_uc003fji.3_Missense_Mutation_p.P232S NM_022470 NP_071915 Q9HA38 ZMAT3_HUMAN Homo sapiens zinc finger, matrin-type 3 (ZMAT3), transcript variant 1, mRNA. 233 apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1) 14 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) AGATCACGTGGAATTCTCTGC 0.423000 9 29 0 0 0.00106085 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45122507 45122507 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:45122507C>T uc003bfd.3 + 3 592 c.315C>T c.(313-315)ttC>ttT p.F105F PRR5-ARHGAP8_uc003bew.2_Silent_p.F96F|PRR5-ARHGAP8_uc003bex.2_Silent_p.F10F|PRR5-ARHGAP8_uc010gzt.1_Silent_p.F128F|PRR5-ARHGAP8_uc003bey.1_Silent_p.F96F|PRR5-ARHGAP8_uc003bez.1_Silent_p.F10F|PRR5-ARHGAP8_uc011aqi.2_Silent_p.F96F|PRR5-ARHGAP8_uc011aqj.2_Silent_p.F10F|PRR5-ARHGAP8_uc003bfb.2_Silent_p.F105F|PRR5-ARHGAP8_uc003bfg.1_Silent_p.F10F NM_181335 NP_851852 Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA. breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 AGATTCGCTTCTATGAGGGTG 0.637000 11 13 0 0 0.000308642 0 0 OR4C12 283093 broad.mit.edu 37 11 50003317 50003317 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:50003317G>A uc010ria.2 - 0 755 c.721C>T c.(721-723)Cac>Tac p.H241Y NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA. 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 ACTATGATGTGAGAAATACAG 0.403000 9 8 0 0 0.000157383 0 0 SNCAIP 9627 broad.mit.edu 37 5 121739548 121739548 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:121739548G>A uc003ksw.1 + 2 324 c.118G>A c.(118-120)Gaa>Aaa p.E40K SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.E40K|SNCAIP_uc003ksy.1_Silent_p.T24T|SNCAIP_uc003ksx.1_Missense_Mutation_p.E87K|SNCAIP_uc003ksz.1_Silent_p.T24T|SNCAIP_uc010jcu.2_Silent_p.T24T|SNCAIP_uc011cwm.1_Silent_p.T24T|SNCAIP_uc003kta.1_Silent_p.T22T|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.T24T|SNCAIP_uc010jcx.1_Missense_Mutation_p.E40K NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 40 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TACGCAAAACGAAGACAGATC 0.478000 21 18 0 0 0.00152264 0 0 RAF1 5894 broad.mit.edu 37 3 12632392 12632392 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:12632392C>T uc003bxf.4 - 11 1690 c.1275G>A c.(1273-1275)gaG>gaA p.E425E RAF1_uc011aut.2_Silent_p.E210E|RAF1_uc011auu.2_Silent_p.E343E NM_002880 NP_002871 P04049 RAF1_HUMAN Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA. 425 Protein kinase. Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.C424C(1) ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) GGCTGCTGCCCTCGCACCACT 0.537000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 65 17 0 0 0.00121646 0 0 MLL2 8085 broad.mit.edu 37 12 49443655 49443655 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:49443655G>A uc001rta.4 - 10 3716 c.3716C>T c.(3715-3717)tCc>tTc p.S1239F NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 1239 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CAACTCCATGGACAGGGAGCC 0.587000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 23 22 0 0 0.000375601 0 0 LRP1B 53353 broad.mit.edu 37 2 141777653 141777653 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:141777653C>T uc002tvj.1 - 11 2780 c.1808G>A c.(1807-1809)gGc>gAc p.G603D LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 603 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G603C(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACAGCAATGCCCTCTACATT 0.363000 TSP Lung(27;0.18) 9 18 0 0 0.000229342 0 0 ZNF709 163051 broad.mit.edu 37 19 12577622 12577622 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:12577622C>T uc002mtv.4 - 1 207 c.46G>A c.(46-48)Gag>Aag p.E16K ZNF709_uc002mtw.4_5'UTR|ZNF709_uc002mtx.4_Missense_Mutation_p.E16K NM_152601 NP_689814 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 709 (ZNF709), mRNA. 16 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 GCCCACTCCTCCTGGGTGAAG 0.468000 38 26 0 0 0.000878237 0 0 C3 718 broad.mit.edu 37 19 6694622 6694622 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:6694622C>T uc002mfm.3 - 23 3036 c.2974G>A c.(2974-2976)Gag>Aag p.E992K NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 992 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding p.E992D(1) breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ACGGCATCCTCTGTCATCTGG 0.632000 17 8 0 0 0.000157383 0 0 AJAP1 55966 broad.mit.edu 37 1 4772234 4772234 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:4772234C>T uc001alm.1 + 1 685 c.304C>T c.(304-306)Cac>Tac p.H102Y AJAP1_uc001aln.3_Missense_Mutation_p.H102Y NM_001042478 NP_061324 Q9UKB5 AJAP1_HUMAN Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA. 102 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CAGACGGGCCCACAGGCCCCG 0.736000 6 6 0 0 0.00116845 0 0 OR6C2 341416 broad.mit.edu 37 12 55846191 55846191 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:55846191C>T uc001sgz.1 + 0 194 c.194C>T c.(193-195)tCc>tTc p.S65F NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA. 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F64V(1) kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 AGAAATTTTTCCTTCTTAGAA 0.398000 16 10 0 0 0.000442599 0 0 LAD1 3898 broad.mit.edu 37 1 201356012 201356012 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:201356012C>T uc001gwm.3 - 2 712 c.477G>A c.(475-477)gaG>gaA p.E159E LAD1_uc009wzu.1_Silent_p.E181E NM_005558 NP_005549 O00515 LAD1_HUMAN Homo sapiens ladinin 1 (LAD1), mRNA. 159 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 CCACCAAGCTCTCCTCCTCCA 0.587000 35 51 0 0 0.000781405 0 0 KIF18A 81930 broad.mit.edu 37 11 28080511 28080511 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:28080511G>A uc001msc.2 - 12 2092 c.1910C>T c.(1909-1911)aCc>aTc p.T637I JA429044_uc021qfh.1_5'Flank NM_031217 NP_112494 Q8NI77 KI18A_HUMAN Homo sapiens kinesin family member 18A (KIF18A), mRNA. 637 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TTGTGGAAAGGTCATAAGAAC 0.368000 35 28 0 0 0.000491102 0 0 UGT2B10 7365 broad.mit.edu 37 4 69682355 69682355 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:69682355C>T uc003hee.3 + 0 643 c.618C>T c.(616-618)ttC>ttT p.F206F UGT2B10_uc011cam.2_Intron NM_001075 NP_001066 P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 206 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 AAATGACTTTCATGGAGAGGG 0.353000 19 6 0 0 0.000157383 0 0 MUC5B 727897 broad.mit.edu 37 11 1263828 1263828 + Missense_Mutation SNP C G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:1263828C>G uc001lta.3 + 30 5777 c.5718C>G c.(5716-5718)atC>atG p.I1906M NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 1906 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGACCTGGATCCTCACAAAGC 0.637000 36 15 0 0 0.000958276 0 0 PSMC6 5706 broad.mit.edu 37 14 53173913 53173913 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:53173913C>T uc010tqx.2 + 0 18 c.18C>T c.(16-18)atC>atT p.I6I PSMC6_uc010tqv.2_Silent_p.I6I|PSMC6_uc010tqw.2_5'UTR NM_002806 NP_002797 P62333 PRS10_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 6 (PSMC6), mRNA. 0 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) TTCCCGGCATCCCCTATGAGA 0.647000 12 9 0 0 0.000442599 0 0 OR4M2 390538 broad.mit.edu 37 15 22369378 22369378 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:22369378C>T uc010tzu.2 + 0 901 c.803C>T c.(802-804)tCc>tTc p.S268F abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S268F(2) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GACTCGTTTTCCCTAGATAAA 0.423000 33 6 0 0 8.12818e-05 0 0 ATCAY 85300 broad.mit.edu 37 19 3905638 3905638 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:3905638G>A uc010xhz.2 + 4 844 c.361G>A c.(361-363)Gaa>Aaa p.E121K ATCAY_uc002lyy.4_Missense_Mutation_p.E115K Q86WG3 ATCAY_HUMAN Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA. 115 transport protein binding p.D120D(1) breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) GAATGGCAACGAACTGGAGTG 0.577000 16 17 0 0 0.000958276 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40822634 40822635 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:40822634_40822635CC>TT uc002iau.2 - 9 1977_1978 c.1510_1511GG>AA c.(1510-1512)ggg>AAg p.G504K PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Missense_Mutation_p.G501K NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA. 504 FERM. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) TGGGGACAGCCCCTCAGGGTGC 0.629000 20 16 0 0 6.4e-05 0 0 TUBB7P 56604 broad.mit.edu 37 4 190903785 190903785 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:190903785C>T uc011clg.2 - 3 1200 c.982G>A c.(982-984)Gag>Aag p.E328K Q99867 TBB4Q_HUMAN Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system. 400 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity TCCATGCCCTCGCCCGTGTAC 0.557000 45 34 0 0 0.000491102 0 0 MLPH 79083 broad.mit.edu 37 2 238449075 238449075 + Missense_Mutation SNP A G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:238449075A>G uc002vwt.3 + 9 1416 c.1189A>G c.(1189-1191)Agt>Ggt p.S397G MLPH_uc002vws.3_Missense_Mutation_p.S254G|MLPH_uc010fyt.1_Missense_Mutation_p.S369G|MLPH_uc002vwu.3_Missense_Mutation_p.S369G|MLPH_uc002vwv.3_Missense_Mutation_p.S329G|MLPH_uc002vww.3_Missense_Mutation_p.S345G|MLPH_uc002vwx.3_Missense_Mutation_p.S253G NM_024101 NP_077006 Q9BV36 MELPH_HUMAN Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA. 397 metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) CAGCAACGTCAGTGACCAGGA 0.627000 16 24 0 0 0.000586117 0 0 TTPAL 79183 broad.mit.edu 37 20 43108823 43108823 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:43108823C>T uc002xmc.1 + 2 308 c.184C>T c.(184-186)Cgt>Tgt p.R62C TTPAL_uc002xmd.1_Missense_Mutation_p.R62C|TTPAL_uc010ggr.1_5'UTR NM_024331 NP_077307 Q9BTX7 TTPAL_HUMAN Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA. 62 intracellular transporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 GCAGGCCCTTCGTGACATGGT 0.592000 9 15 0 0 0.000422831 0 0 JARID2 3720 broad.mit.edu 37 6 15501623 15501623 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:15501623C>T uc003nbj.3 + 7 2675 c.2431C>T c.(2431-2433)Cac>Tac p.H811Y JARID2_uc011div.2_Missense_Mutation_p.H639Y|JARID2_uc011diw.1_Missense_Mutation_p.H773Y NM_004973 NP_004964 Q92833 JARD2_HUMAN Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA. 811 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CAATGACTTCCACAAGTGCAT 0.587000 25 17 0 0 0.00121646 0 0 OR51G1 79324 broad.mit.edu 37 11 4944919 4944919 + Silent SNP A G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:4944919A>G uc010qyr.2 - 0 651 c.651T>C c.(649-651)ttT>ttC p.F217F NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CGTATGAGAGAAAGATGAGCA 0.547000 10 8 0 0 0.000274275 0 0 CD163 9332 broad.mit.edu 37 12 7637779 7637779 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:7637779C>T uc001qsz.3 - 10 2820 c.2692G>A c.(2692-2694)Gga>Aga p.G898R CD163_uc001qta.3_Missense_Mutation_p.G898R|CD163_uc009zfw.2_Missense_Mutation_p.G931R NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 898 SRCR 8. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GTGTCAGGTCCTTTTGGACAC 0.542000 16 11 0 0 0.000978159 0 0 DNM2 1785 broad.mit.edu 37 19 10934479 10934479 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:10934479C>T uc002mpt.2 + 16 1987 c.1797C>T c.(1795-1797)gaC>gaT p.D599D DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.D599D|DNM2_uc010dxl.2_Silent_p.D599D|DNM2_uc002mpu.2_Silent_p.D595D|DNM2_uc002mpv.2_Silent_p.D595D|DNM2_uc002mpw.3_Silent_p.D328D|DNM2_uc002mpx.1_5'UTR NM_001005360 NP_001005360 P50570 DYN2_HUMAN Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA. 599 PH. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TCTACAAGGACCTGCGGCAGA 0.637000 """F, N, Splice, Mis, O""" ETP ALL 34 6 0 0 0.00116845 0 0 MST1R 4486 broad.mit.edu 37 3 49924951 49924951 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:49924951C>T uc003cxy.4 - 19 4256 c.3992G>A c.(3991-3993)cGa>cAa p.R1331Q MST1R_uc011bdc.2_Missense_Mutation_p.R1282Q NM_002447 NP_002438 Q04912 RON_HUMAN Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA. 1331 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GAAGGTGGGTCGCACTGCTGG 0.557000 48 18 0 0 0.00074312 0 0 TTN 7273 broad.mit.edu 37 2 179458812 179458812 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:179458812C>T uc021vsy.1 - 245 50829 c.50604G>A c.(50602-50604)aaG>aaA p.K16868K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K10563K|TTN_uc021vta.1_Silent_p.K10496K|TTN_uc021vtb.1_Silent_p.K10371K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 17795 Fibronectin type-III 22. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGGTGTAGTCTTTATATGAG 0.463000 27 31 0 0 0.000409698 0 0 NEU4 129807 broad.mit.edu 37 2 242755715 242755715 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:242755715C>T uc002wcp.2 + 1 567 c.73C>T c.(73-75)Ctc>Ttc p.L25F NEU4_uc010fzr.3_Missense_Mutation_p.L12F|NEU4_uc002wcm.3_Missense_Mutation_p.L12F|NEU4_uc002wco.2_Missense_Mutation_p.L12F|NEU4_uc002wcn.2_Missense_Mutation_p.L24F NM_001167599 NP_001161074 Q8WWR8 NEUR4_HUMAN Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA. 12 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) ACGGACAGTGCTCTTCGAGCG 0.697000 17 22 0 0 0.000878237 0 0 BTBD11 121551 broad.mit.edu 37 12 108013802 108013802 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:108013802G>A uc001tmk.1 + 10 3013 c.2492G>A c.(2491-2493)cGg>cAg p.R831Q BTBD11_uc009zut.1_Missense_Mutation_p.R712Q|BTBD11_uc001tmj.3_Missense_Mutation_p.R831Q|BTBD11_uc001tml.1_Missense_Mutation_p.R368Q NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 831 integral to membrane DNA binding p.R831Q(4) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GAGTCTTTGCGGATCGCCTTC 0.602000 9 7 0 0 0.000274275 0 0 CTPS1 1503 broad.mit.edu 37 1 41454276 41454277 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:41454276_41454277CC>TT uc001cgk.4 + 4 957_958 c.449_450CC>TT c.(448-450)acc>aTT p.T150I CTPS1_uc010ojo.2_Intron|CTPS1_uc010ojp.1_Missense_Mutation_p.T157I|CTPS1_uc001cgl.4_Missense_Mutation_p.T150I|CTPS1_uc010ojq.2_5'UTR NM_001905 NP_001896 P17812 PYRG1_HUMAN Homo sapiens CTP synthase (CTPS), mRNA. 150 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding endometrium(3)|lung(10) 13 L-Glutamine(DB00130) CTTGGTGGAACCGTGGGGGACA 0.436000 53 40 0 0 6.4e-05 0 0 GBP4 115361 broad.mit.edu 37 1 89654350 89654350 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:89654350G>A uc001dnb.3 - 7 1441 c.1325C>T c.(1324-1326)tCt>tTt p.S442F NM_052941 NP_443173 Q96PP9 GBP4_HUMAN Homo sapiens guanylate binding protein 4 (GBP4), mRNA. 442 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) TCCAGGAACAGAGAAAATTCC 0.448000 83 76 0 0 0.000781405 0 0 FAHD2B 151313 broad.mit.edu 37 2 97749751 97749751 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:97749751C>T uc002sxm.3 - 6 967 c.816G>A c.(814-816)ggG>ggA p.G272G NM_199336 NP_955368 Q6P2I3 FAH2B_HUMAN Homo sapiens fumarylacetoacetate hydrolase domain containing 2B (FAHD2B), mRNA. 272 hydrolase activity|metal ion binding kidney(5)|large_intestine(2)|lung(3)|skin(2) 12 GGATGACATCCCCTGGGTAAA 0.557000 7 16 0 0 0.00074312 0 0 SOCS5 9655 broad.mit.edu 37 2 46986148 46986148 + Missense_Mutation SNP C G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:46986148C>G uc021vgx.1 + 0 479 c.479C>G c.(478-480)tCt>tGt p.S160C SOCS5_uc002rvf.3_Missense_Mutation_p.S160C|SOCS5_uc002rvg.3_Missense_Mutation_p.S160C NM_144949 NP_659198 O75159 SOCS5_HUMAN Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA. 160 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GGCGTAAGTTCTGTACACGAC 0.468000 21 34 0 0 0.00058488 0 0 NBEA 26960 broad.mit.edu 37 13 35738574 35738574 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr13:35738574C>T uc021rid.1 + 23 4695 c.4161C>T c.(4159-4161)tcC>tcT p.S1387S NBEA_uc021ric.1_Silent_p.S1387S|NBEA_uc010abi.3_Silent_p.S78S NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 1387 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACCTCATTTCCCAAATGGTAG 0.353000 6 6 0 0 8.12818e-05 0 0 ZRANB2 9406 broad.mit.edu 37 1 71544186 71544186 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:71544186C>T uc001dft.3 - 2 466 c.172G>A c.(172-174)Gaa>Aaa p.E58K BC054887_uc001dfu.1_5'Flank|ZRANB2_uc001dfs.3_Missense_Mutation_p.E58K NM_203350 NP_976225 O95218 ZRAB2_HUMAN Homo sapiens zinc finger, RAN-binding domain containing 2 (ZRANB2), transcript variant 1, mRNA. 58 RNA splicing|mRNA processing nucleus RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1) 15 CGGCTCTTTTCTGCAAGTGTC 0.383000 47 23 0 0 0.00127121 0 0 CEACAM19 56971 broad.mit.edu 37 19 45179592 45179592 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:45179592C>T uc002ozo.4 + 2 954 c.474C>T c.(472-474)atC>atT p.I158I CEACAM19_uc002ozp.4_Silent_p.I158I NM_020219 NP_064604 Q7Z692 CEA19_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA. 158 integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 11 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) ACGCTGGGATCCTGGCGGCCA 0.577000 103 48 0 0 0.000781405 0 0 SUSD4 55061 broad.mit.edu 37 1 223438088 223438088 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:223438088C>T uc001hnx.3 - 3 1242 c.608G>A c.(607-609)gGg>gAg p.G203E SUSD4_uc001hny.4_Missense_Mutation_p.G203E|SUSD4_uc010puw.2_Missense_Mutation_p.G43E|SUSD4_uc001hnz.2_Missense_Mutation_p.G203E|SUSD4_uc010pux.1_Missense_Mutation_p.G132E NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA. 203 Sushi 3. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) GATCACAGTCCCCACCGGGAA 0.512000 25 41 0 0 0.000589545 0 0 NOVA1 4857 broad.mit.edu 37 14 26917279 26917279 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:26917279C>T uc001wqa.3 - 5 1830 c.1044G>A c.(1042-1044)cgG>cgA p.R348R NOVA1_uc001wpy.3_Silent_p.R470R|NOVA1_uc001wpz.3_Silent_p.R446R NM_002515 NP_002506 P51513 NOVA1_HUMAN Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA. 473 Ala-rich. RNA splicing|locomotory behavior|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TGGTTACCTTCCGATTCCTTG 0.453000 18 9 0 0 0.000274275 0 0 TNFRSF8 943 broad.mit.edu 37 1 12202437 12202437 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:12202437C>T uc001atq.3 + 14 1859 c.1637C>T c.(1636-1638)cCc>cTc p.P546L TNFRSF8_uc010obc.2_Missense_Mutation_p.P434L|TNFRSF8_uc001atr.3_Missense_Mutation_p.P83L|TNFRSF8_uc001ats.3_Missense_Mutation_p.P27L NM_001243 NP_001234 P28908 TNR8_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA. 546 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) CCAGCAGAGCCCGAGTTGGAG 0.642000 6 4 0 0 0.000602214 0 0 SOGA1 140710 broad.mit.edu 37 20 35443718 35443718 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:35443718G>A uc021wcx.1 - 4 2467 c.2127C>T c.(2125-2127)ctC>ctT p.L709L SOGA1_uc002xgd.1_Silent_p.L471L NM_080627 NP_542194 O94964 K0889_HUMAN Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA. 471 p.L709L(4)|p.L471L(1) endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 TGGCATGGATGAGCTTGGTGT 0.637000 25 14 0 0 0.000219431 0 0 DOPEY2 9980 broad.mit.edu 37 21 37619841 37619841 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr21:37619841C>T uc002yvg.3 + 19 4803 c.4724C>T c.(4723-4725)tCt>tTt p.S1575F DOPEY2_uc011aeb.2_Missense_Mutation_p.S1524F|DOPEY2_uc002yvh.3_Missense_Mutation_p.S426F NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 1575 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GAAAACATTTCTCCAGATTAT 0.353000 58 79 0 0 0.000781405 0 0 ABHD4 63874 broad.mit.edu 37 14 23072910 23072911 + Missense_Mutation DNP CC AT AT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:23072910_23072911CC>AT uc001wgm.3 + 3 635_636 c.566_567CC>AT c.(565-567)gcc>gAT p.A189D ABHD4_uc010tmz.1_3'UTR|ABHD4_uc010tna.1_Missense_Mutation_p.A189D|ABHD4_uc010tnb.2_Intron NM_022060 NP_071343 Q8TB40 ABHD4_HUMAN Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA. 189 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) GCACCCCCAGCCTGGGTCAAAG 0.545000 33 17 0 0 6.4e-05 0 0 SWI5 375757 broad.mit.edu 37 9 131048271 131048271 + Missense_Mutation SNP A G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr9:131048271A>G uc004bup.3 + 3 602 c.602A>G c.(601-603)aAt>aGt p.N201S SWI5_uc010mxx.1_Missense_Mutation_p.N201S NM_001040011 NP_001035100 Q1ZZU3 SWI5_HUMAN Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA. 201 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding CACGAGTACAATGACATCAAG 0.527000 10 56 0 0 0.000781405 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887485 12887485 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:12887485G>A uc001auk.2 - 2 568 c.372C>T c.(370-372)ctC>ctT p.L124L NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 124 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGAGGCAGGTGAGGTATTCAT 0.473000 148 91 0 0 0.000781405 0 0 LRRN1 57633 broad.mit.edu 37 3 3887829 3887829 + Missense_Mutation SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:3887829C>A uc003bpt.4 + 1 2265 c.1504C>A c.(1504-1506)Cag>Aag p.Q502K SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.Q502K NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA. 502 Ig-like C2-type. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ATGTGTTGCCCAGAATGTCCA 0.433000 43 5 0.00116845 0.00809969 0.00116845 1 0 KIAA1109 84162 broad.mit.edu 37 4 123230600 123230601 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:123230600_123230601GG>AA uc003ieh.3 + 56 10278_10279 c.10233_10234GG>AA c.(10231-10236)ggggat>ggAAat p.D3412N KIAA1109_uc003iel.1_Missense_Mutation_p.D1347N NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 3412 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AAATTCATGGGGATTTAGTGAT 0.337000 22 11 0 0 6.4e-05 0 0 RCSD1 92241 broad.mit.edu 37 1 167666966 167666966 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:167666966G>A uc001gem.3 + 5 1292 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K RCSD1_uc010pli.2_Missense_Mutation_p.E339K NM_052862 NP_443094 Q6JBY9 CPZIP_HUMAN Homo sapiens RCSD domain containing 1 (RCSD1), mRNA. 369 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) AAAAGGCAAGGAAAAACAACA 0.627000 4 9 0 0 0.000442599 0 0 CHD1 1105 broad.mit.edu 37 5 98194037 98194037 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:98194037G>A uc003knf.3 - 33 4782 c.4634C>T c.(4633-4635)tCc>tTc p.S1545F CHD1_uc010jbn.3_Missense_Mutation_p.S271F NM_001270 NP_001261 O14646 CHD1_HUMAN Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA. 1545 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TCTATCAGAGGAATAACTGTC 0.338000 40 36 0 0 0.000781405 0 0 NEDD4 4734 broad.mit.edu 37 15 56155188 56155188 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:56155188C>T uc002adj.3 - 4 2154 c.1854G>A c.(1852-1854)gaG>gaA p.E618E NEDD4_uc002adl.3_Silent_p.E199E|NEDD4_uc002adi.3_Silent_p.E546E|NEDD4_uc010ugj.2_Silent_p.E602E|NEDD4_uc010bfm.3_Silent_p.E601E|NEDD4_uc002adk.3_Non-coding_Transcript NM_198400 NP_006145 P46934 NEDD4_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA. 618 Mediates interaction with TNIK (By similarity).|WW 1. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TATCCTGCCTCTCTTCCCACC 0.473000 20 11 0 0 0.000978159 0 0 MYH2 4620 broad.mit.edu 37 17 10428305 10428305 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:10428305C>T uc010coi.3 - 33 4868 c.4740G>A c.(4738-4740)agG>agA p.R1580R AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1580R|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1580 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.D1579H(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CAGCAATTTTCCTATCAACCT 0.453000 50 40 0 0 0.000437636 0 0 OR6C76 390326 broad.mit.edu 37 12 55820846 55820846 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:55820846G>A uc010spm.2 + 0 809 c.809G>A c.(808-810)gGa>gAa p.G270E NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA. 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TTGACAAAAGGAGTAGCTATA 0.403000 13 6 0 0 0.00116845 0 0 DNAH11 8701 broad.mit.edu 37 7 21678670 21678670 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:21678670C>T uc003svc.3 + 27 4977 c.4946C>T c.(4945-4947)gCt>gTt p.A1649V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 1649 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TCAAAAGGAGCTCAGCCTAAA 0.403000 Kartagener syndrome 33 8 0 0 0.000157383 0 0 ZZEF1 23140 broad.mit.edu 37 17 3967729 3967730 + Missense_Mutation DNP GG AA AA rs112690569 TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:3967729_3967730GG>AA uc002fxe.3 - 28 4707_4708 c.4643_4644CC>TT c.(4642-4644)ccc>cTT p.P1548L ZZEF1_uc002fxh.3_5'Flank|ZZEF1_uc002fxi.3_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.P161L NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 1548 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CTTTCACTGTGGGCACCAGTCT 0.589000 51 36 0 0 6.4e-05 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146802 70146802 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:70146802C>T uc003hej.3 + 0 586 c.584C>T c.(583-585)cCt>cTt p.P195L UGT2B28_uc010ihr.3_Missense_Mutation_p.P195L NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 195 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TCCTACATACCTGTTGTTATG 0.393000 15 8 0 0 0.000157383 0 0 NTRK3 4916 broad.mit.edu 37 15 88420243 88420243 + Silent SNP A G G rs78821883 TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:88420243A>G uc002bme.2 - 19 2749 c.2443T>C c.(2443-2445)Ttg>Ctg p.L815L NTRK3_uc002bmh.2_Silent_p.L793L|NTRK3_uc002bmf.2_Silent_p.L801L|NTRK3_uc021sua.1_Silent_p.L793L NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 815 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TTGATGTTCAACCGCTGCTGT 0.547000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 41 15 0 0 0.000219431 0 0 UNC13A 23025 broad.mit.edu 37 19 17752257 17752257 + Missense_Mutation SNP T A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:17752257T>A uc021uqk.1 - 20 2620 c.2578A>T c.(2578-2580)Att>Ttt p.I860F NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 861 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TCGTCCACAATCTCCTGGGCT 0.567000 15 19 0 0 0.00121646 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41048429 41048429 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:41048429C>T uc003jmj.4 - 15 2171 c.1681G>A c.(1681-1683)Gaa>Aaa p.E561K HEATR7B2_uc003jmi.4_Missense_Mutation_p.E116K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 561 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 CTTGTACCTTCCAGAGGCTGC 0.453000 23 7 0 0 0.000274275 0 0 LRRC52 440699 broad.mit.edu 37 1 165532895 165532895 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:165532895G>A uc001gde.2 + 1 832 c.776G>A c.(775-777)gGa>gAa p.G259E LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA. 259 integral to membrane p.A258S(1)|p.A258T(1) NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) TTCGCCGCGGGAACTGTGGCT 0.592000 27 16 0 0 0.000958276 0 0 SLAMF6 114836 broad.mit.edu 37 1 160461134 160461134 + Nonsense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:160461134G>A uc001fwe.2 - 2 497 c.427C>T c.(427-429)Cag>Tag p.Q143* SLAMF6_uc010pji.2_Nonsense_Mutation_p.Q32*|SLAMF6_uc001fwd.2_Nonsense_Mutation_p.Q143*|SLAMF6_uc010pjh.2_Nonsense_Mutation_p.Q94*|SLAMF6_uc010pjj.2_Nonsense_Mutation_p.Q32*|SLAMF6_uc009wtm.2_Nonsense_Mutation_p.Q94* NM_001184714 NP_001171643 Q96DU3 SLAF6_HUMAN Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA. 143 Ig-like. integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) GTCATATTCTGAAATAGCTGA 0.433000 18 30 0 0 0.00178596 0 0 DPT 1805 broad.mit.edu 37 1 168698205 168698205 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:168698205C>T uc001gfp.3 - 0 238 c.208G>A c.(208-210)Gac>Aac p.D70N NM_001937 NP_001928 Q07507 DERM_HUMAN Homo sapiens dermatopontin (DPT), mRNA. 70 2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY]. cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) CATTGTCTGTCAGAACCTTCC 0.582000 32 14 0 0 0.000308642 0 0 immunoglobulin_heavy_chain 0 broad.mit.edu 37 14 107034769 107034769 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:107034769C>T uc001ysz.3 - 1 340 c.311G>A c.(310-312)aGc>aAc p.S104N abParts_uc021ser.1_Non-coding_Transcript Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene. GGCCTTCAGGCTGCTCCACTG 0.582000 35 57 0 0 0.000781405 0 0 STAB2 55576 broad.mit.edu 37 12 104126784 104126784 + Splice_Site SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:104126784G>A uc001tjw.3 + 51 5470 c.5284_splice c.e51-1 p.D1762_splice STAB2_uc009zug.3_Splice_Site NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1762 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGTGTTTCAGGACTCAGGTTT 0.577000 15 10 0 0 0.00136819 0 0 C8orf74 203076 broad.mit.edu 37 8 10557879 10557879 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:10557879C>T uc003wtd.1 + 3 812 c.783C>T c.(781-783)gcC>gcT p.A261A C8orf74_uc003wte.1_Non-coding_Transcript NM_001040032 NP_001035121 Q6P047 CH074_HUMAN Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA. 261 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) ACCTCAACGCCCCCACCCCTA 0.592000 25 9 0 0 0.000442599 0 0 S100A13 6284 broad.mit.edu 37 1 153598807 153598807 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:153598807G>A uc001fcf.4 - 1 316 c.142C>T c.(142-144)Cat>Tat p.H48Y S100A13_uc001fcg.3_Missense_Mutation_p.H48Y|S100A13_uc009woh.3_Missense_Mutation_p.H48Y|S100A13_uc001fch.3_Missense_Mutation_p.H48Y|S100A13_uc001fci.3_Missense_Mutation_p.H48Y|S100A13_uc001fcj.3_Missense_Mutation_p.H48Y|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank NM_001024213 NP_005970 Q99584 S10AD_HUMAN Homo sapiens S100 calcium binding protein A13 (S100A13), transcript variant 5, mRNA. 48 EF-hand 1. interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm RAGE receptor binding|calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) TTGAGCAGATGGGGCAACTGC 0.537000 150 51 0 0 0.000781405 0 0 DDX3X 1654 broad.mit.edu 37 X 41202597 41202598 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrX:41202597_41202598CC>TT uc004dfe.3 + 6 1527_1528 c.672_673CC>TT c.(670-675)gcccaa>gcTTaa p.Q225* DDX3X_uc010nhf.1_Nonsense_Mutation_p.Q209*|DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Nonsense_Mutation_p.Q225*|DDX3X_uc011mkq.2_Nonsense_Mutation_p.Q209*|DDX3X_uc011mkr.2_Nonsense_Mutation_p.Q225*|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript NM_001356 NP_001347 O00571 DDX3X_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA. 225 Helicase ATP-binding. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 TGGCTTGTGCCCAAACAGGTAA 0.361000 HNSCC(61;0.18) 1 13 0 0 6.4e-05 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117670 117670 + RNA SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrGL000205.1:117670G>A uc002kgk.4 + 0 c.1048G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. AGTTCAGAGCGTGGAGCAGAT 0.607000 8 7 0 0 0.000157383 0 0 C15orf43 145645 broad.mit.edu 37 15 45258435 45258435 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:45258435C>T uc001zuk.3 + 4 442 c.428C>T c.(427-429)tCc>tTc p.S143F NM_152448 NP_689661 Q8NHR7 CO043_HUMAN Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA. 143 NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2) 8 all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192) all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06) AAAGAATTATCCAAAAGGTAT 0.318000 8 6 0 0 0.00116845 0 0 MAPK1 5594 broad.mit.edu 37 22 22127173 22127173 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:22127173G>A uc002zvn.3 - 6 1195 c.955C>T c.(955-957)Ccg>Tcg p.P319S MAPK1_uc002zvo.3_Missense_Mutation_p.P319S|MAPK1_uc010gtk.1_Missense_Mutation_p.P275S NM_002745 NP_620407 P28482 MK01_HUMAN Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA. 319 ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) TCGTCACTCGGGTCGTAATAC 0.478000 66 25 0 0 0.000878237 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19199413 19199413 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:19199413G>A uc001bbb.3 - 14 1894 c.1618C>T c.(1618-1620)Cgc>Tgc p.R540C ALDH4A1_uc010ocu.2_Missense_Mutation_p.R480C|ALDH4A1_uc001bbc.3_Missense_Mutation_p.R540C|ALDH4A1_uc021ohl.1_Missense_Mutation_p.R489C NM_170726 NP_001154976 P30038 AL4A1_HUMAN Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA. 540 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) GACGTCCAGCGCAGGATGTAG 0.587000 29 21 0 0 0.000295444 0 0 AMPD2 271 broad.mit.edu 37 1 110167981 110167982 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:110167981_110167982CC>TT uc009wfh.1 + 2 852_853 c.310_311CC>TT c.(310-312)ccc>TTc p.P104F AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.P23F|AMPD2_uc001dyc.1_Missense_Mutation_p.P104F|AMPD2_uc010ovr.1_Intron|AMPD2_uc010ovs.1_5'UTR|AMPD2_uc001dyd.1_5'Flank NM_004037 NP_004028 Q01433 AMPD2_HUMAN Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA. 104 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CCTGCCGGGCCCCGCCCCCTGC 0.678000 19 15 0 0 6.4e-05 0 0 CHD9 80205 broad.mit.edu 37 16 53265346 53265346 + Missense_Mutation SNP T C C TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:53265346T>C uc002ehb.3 + 7 2466 c.2302T>C c.(2302-2304)Ttt>Ctt p.F768L CHD9_uc002egy.3_Missense_Mutation_p.F768L|CHD9_uc002ehc.3_Missense_Mutation_p.F768L|CHD9_uc002ehd.2_Missense_Mutation_p.F294L NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 768 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) AGAAGAACCATTTAACCCAGA 0.308000 18 9 0 0 0.000673444 0 0 ADAM28 10863 broad.mit.edu 37 8 24171031 24171031 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:24171031G>A uc003xdy.3 + 5 597 c.514G>A c.(514-516)Gat>Aat p.D172N ADAM28_uc003xdx.3_Missense_Mutation_p.D172N|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 172 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CTGTGGGATGGATGGTGTGTT 0.433000 6 13 0 0 0.000566183 0 0 AGPAT6 137964 broad.mit.edu 37 8 41456738 41456738 + Missense_Mutation SNP T A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:41456738T>A uc003xnz.2 + 1 1019 c.80T>A c.(79-81)cTc>cAc p.L27H NM_178819 NP_848934 Q86UL3 GPAT4_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA. 27 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) ACCCTCCTTCTCGTTTTCATC 0.463000 41 65 0 0 0.000781405 0 0 CHD7 55636 broad.mit.edu 37 8 61750375 61750375 + Missense_Mutation SNP G C C TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:61750375G>C uc003xue.3 + 17 4826 c.4334G>C c.(4333-4335)aGa>aCa p.R1445T CHD7_uc022aux.1_Intron NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA. 1445 Helicase C-terminal. T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent nucleus ATP binding|DNA binding|chromatin binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ATGAGTGGAAGAGAAAATGCT 0.388000 18 5 0 0 0.00116845 0 0 ZNF629 23361 broad.mit.edu 37 16 30793710 30793710 + Nonsense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:30793710G>A uc002dzs.1 - 2 2147 c.1939C>T c.(1939-1941)Cag>Tag p.Q647* NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN Homo sapiens zinc finger protein 629 (ZNF629), mRNA. 647 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) AAGCCCTCCTGACCCTCCGGC 0.657000 7 4 0 0 0.00024832 0 0 GOLPH3L 55204 broad.mit.edu 37 1 150667295 150667296 + Missense_Mutation DNP CG AT AT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:150667295_150667296CG>AT uc001evj.2 - 1 236_237 c.19_20CG>AT c.(19-21)cgg>ATg p.R7M GOLPH3L_uc010pci.1_Missense_Mutation_p.R7M NM_018178 NP_060648 Q9H4A5 GLP3L_HUMAN Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA. 7 Golgi cisterna membrane p.R7L(2) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) GCGACGGGCCCGGTGAGTTAAA 0.391000 123 5 0 0 6.4e-05 0 0 FZD2 2535 broad.mit.edu 37 17 42636091 42636092 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:42636091_42636092GG>AA uc002igx.2 + 0 1280_1281 c.1035_1036GG>AA c.(1033-1038)tgggtc>tgAAtc p.345_346WV>*I NM_001466 NP_001457 Q14332 FZD2_HUMAN Homo sapiens frizzled family receptor 2 (FZD2), mRNA. 345 G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CCATCTGGTGGGTCATCCTGTC 0.619000 31 11 0 0 6.4e-05 0 0 LGR4 55366 broad.mit.edu 37 11 27397858 27397858 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:27397858G>A uc001mrj.4 - 12 1654 c.1169C>T c.(1168-1170)tCt>tTt p.S390F LGR4_uc001mrk.4_Missense_Mutation_p.S366F NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA. 390 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 AATCCTTAGAGATATCAGGCC 0.294000 55 39 0 0 0.000781405 0 0 GALK1 2584 broad.mit.edu 37 17 73758912 73758912 + Missense_Mutation SNP G C C TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:73758912G>C uc002jpk.3 - 4 729 c.666C>G c.(664-666)atC>atG p.I222M GALK1_uc010wsj.1_3'UTR NM_000154 NP_000145 P51570 GALK1_HUMAN Homo sapiens galactokinase 1 (GALK1), mRNA. 222 galactose catabolic process cytosol ATP binding|galactokinase activity|galactose binding endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 5 all_cancers(13;1.5e-07) all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TAGAGTTGGTGATGAGCACGG 0.642000 35 11 0 0 0.000978159 0 0 ASXL3 80816 broad.mit.edu 37 18 31320290 31320290 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr18:31320290C>T uc010dmg.1 + 10 2977 c.2922C>T c.(2920-2922)atC>atT p.I974I ASXL3_uc002kxq.2_Silent_p.I681I NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 974 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GCTTTGGAATCTGTAAGGAAA 0.443000 9 4 0 0 0.000602214 0 0 ITGB2 3689 broad.mit.edu 37 21 46309219 46309219 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr21:46309219C>T uc002zgd.2 - 11 1893 c.1849G>A c.(1849-1851)Ggc>Agc p.G617S ITGB2_uc002zgf.3_Missense_Mutation_p.G617S|ITGB2_uc011afl.1_Missense_Mutation_p.G539S|ITGB2_uc010gpw.2_Missense_Mutation_p.G560S|ITGB2_uc002zgg.2_Missense_Mutation_p.G617S NM_001127491 NP_001120963 P05107 ITB2_HUMAN Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA. 617 Cysteine-rich tandem repeats. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GAGGGGCAGCCGGGGCACTCC 0.682000 31 17 0 0 0.000229342 0 0 ZNF579 163033 broad.mit.edu 37 19 56090016 56090016 + Silent SNP G C C TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:56090016G>C uc002qlh.3 - 1 1043 c.990C>G c.(988-990)ccC>ccG p.P330P ZNF579_uc021vby.1_Silent_p.P330P NM_152600 NP_689813 Q8NAF0 ZN579_HUMAN Homo sapiens zinc finger protein 579 (ZNF579), mRNA. 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) TGCCCGCCGCGGGCAGCGGGG 0.751000 13 11 0 0 0.000219431 0 0 ATF7IP 55729 broad.mit.edu 37 12 14578046 14578046 + Silent SNP A G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:14578046A>G uc001rbw.3 + 1 1355 c.1197A>G c.(1195-1197)gaA>gaG p.E399E ATF7IP_uc010shs.1_Silent_p.E399E|ATF7IP_uc001rbu.3_Silent_p.E399E|ATF7IP_uc001rbv.1_Silent_p.E399E|ATF7IP_uc001rbx.3_Silent_p.E399E|ATF7IP_uc010sht.1_Silent_p.E399E|ATF7IP_uc001rby.4_Silent_p.E399E|ATF7IP_uc001rbz.1_Silent_p.E399E|ATF7IP_uc001rca.3_Silent_p.E399E|ATF7IP_uc001rcb.3_Silent_p.E10E NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA. 399 Glu-rich. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 AAAAGAATGAAGATGAAACTT 0.333000 35 29 0 0 0.00106085 0 0 KCNJ4 3761 broad.mit.edu 37 22 38822972 38822972 + Missense_Mutation SNP T G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:38822972T>G uc003avs.1 - 1 1263 c.1166A>C c.(1165-1167)gAg>gCg p.E389A KCNJ4_uc003avt.1_Missense_Mutation_p.E389A|KCNJ4_uc021wpp.1_Missense_Mutation_p.E389A NM_004981 NP_690607 P48050 IRK4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA. 389 Poly-Glu. synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex PDZ domain binding|inward rectifier potassium channel activity endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) AGCTGCCTCCTCCTCCATCTC 0.682000 71 28 0 0 0.000409698 0 0 MBD1 4152 broad.mit.edu 37 18 47803466 47803466 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr18:47803466G>A uc002lem.4 - 2 656 c.219C>T c.(217-219)gcC>gcT p.A73A MBD1_uc002lef.3_5'Flank|MBD1_uc002leg.3_Silent_p.A73A|MBD1_uc010dow.2_Silent_p.A73A|MBD1_uc010xdi.2_Silent_p.A99A|MBD1_uc010xdj.2_Silent_p.A73A|MBD1_uc002lel.4_Silent_p.A73A|MBD1_uc002len.3_Silent_p.A73A|MBD1_uc002leh.4_Silent_p.A73A|MBD1_uc002lei.4_Silent_p.A73A|MBD1_uc002lej.4_Silent_p.A73A|MBD1_uc002lek.4_Silent_p.A73A|MBD1_uc021ukd.1_Silent_p.A73A|MBD1_uc021uke.1_Silent_p.A73A|MBD1_uc010xdk.2_Silent_p.A73A|MBD1_uc010dox.1_Silent_p.A73A|MBD1_uc002leo.2_Silent_p.A73A NM_001204136 NP_001191065 Q9UIS9 MBD1_HUMAN Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 6, mRNA. 73 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GTACCTTGGGGGCTGGATAGC 0.532000 12 4 0 0 0.000602214 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29884037 29884037 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:29884037C>T uc010vec.2 - 14 2761 c.2516G>A c.(2515-2517)cGa>cAa p.R839Q BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.R769Q|SEZ6L2_uc002dur.4_Intron|SEZ6L2_uc002duq.4_Intron|SEZ6L2_uc010ved.2_Missense_Mutation_p.R795Q|SEZ6L2_uc002dus.4_Missense_Mutation_p.R725Q NM_001243332 NP_001230261 Q6UXD5 SE6L2_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA. 829 endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTCCAGTTTTCGGTTGTCCAG 0.672000 36 29 0 0 0.000409698 0 0 ACSM2A 123876 broad.mit.edu 37 16 20471449 20471449 + Nonsense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:20471449C>T uc010bwe.3 + 2 252 c.13C>T c.(13-15)Cga>Tga p.R5* ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.4_Nonsense_Mutation_p.R5*|ACSM2A_uc002dhg.4_Nonsense_Mutation_p.R5*|ACSM2A_uc010vay.2_Intron NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 5 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.R5Q(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GCATTGGCTGCGAAAAGTTCA 0.488000 9 11 0 0 0.00136819 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44014378 44014379 + Missense_Mutation DNP GG TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:44014378_44014379GG>TT uc002rtl.3 + 3 320_321 c.220_221GG>TT c.(220-222)ggg>TTg p.G74L DYNC2LI1_uc002rth.3_Missense_Mutation_p.G74L|DYNC2LI1_uc002rti.3_Missense_Mutation_p.G74L|DYNC2LI1_uc002rtk.3_Missense_Mutation_p.G74L|DYNC2LI1_uc010ynz.2_Intron|DYNC2LI1_uc021vgq.1_5'UTR NM_001193464 NP_001180393 Q8TCX1 DC2L1_HUMAN Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA. 74 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AAGAGCAAAAGGGCACAACACA 0.366000 345 9 0 0 6.4e-05 0 0 PARP8 79668 broad.mit.edu 37 5 50090740 50090740 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:50090740C>T uc003jon.4 + 12 1099 c.917C>T c.(916-918)tCt>tTt p.S306F PARP8_uc011cpz.2_Missense_Mutation_p.S198F|PARP8_uc003joo.3_Missense_Mutation_p.S306F|PARP8_uc003jop.3_Missense_Mutation_p.S306F NM_001178055 NP_078891 Q8N3A8 PARP8_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA. 306 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) AAACTGAAATCTGAGCAGGAC 0.468000 18 17 0 0 0.000958276 0 0 DLL3 10683 broad.mit.edu 37 19 39989682 39989682 + Splice_Site SNP A G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:39989682A>G uc002olx.2 + 1 127 c.69_splice c.e1+1 p.Q23_splice DLL3_uc010egq.3_Splice_Site_p.Q23_splice|DLL3_uc002olw.2_Splice_Site_p.Q23_splice NM_016941 NP_058637 Q9NYJ7 DLL3_HUMAN Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA. 23 Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TTCCTCCCCCAGGTCAGAGCC 0.662000 31 10 0 0 0.000673444 0 0 PDZD2 23037 broad.mit.edu 37 5 31983460 31983460 + Missense_Mutation SNP C T T rs34239074 byFrequency TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:31983460C>T uc003jhl.3 + 2 1064 c.676C>T c.(676-678)Cct>Tct p.P226S PDZD2_uc003jhm.3_Missense_Mutation_p.P226S|PDZD2_uc011cnx.1_Missense_Mutation_p.P52S NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 226 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTCCAGGCCTCCTGCCAACAA 0.577000 28 13 0 0 0.000151284 0 0 MEFV 4210 broad.mit.edu 37 16 3298935 3298935 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:3298935C>T uc002cun.1 - 3 1370 c.1330G>A c.(1330-1332)Ggg>Agg p.G444R MEFV_uc021tbw.1_Missense_Mutation_p.G233R|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 444 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) TTCTCCTCCCCATAGGATCGC 0.532000 99 42 0 0 0.000781405 0 0 F8 2157 broad.mit.edu 37 X 154158047 154158047 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrX:154158047G>A uc004fmt.3 - 13 4189 c.4018C>T c.(4018-4020)Cca>Tca p.P1340S NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1340 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCTTCTAGTGGGAGTCTGAAT 0.418000 1 21 0 0 0.000295444 0 0 RNF25 64320 broad.mit.edu 37 2 219530920 219530920 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:219530920G>A uc002vit.3 - 5 479 c.391C>T c.(391-393)Cct>Tct p.P131S RNF25_uc010fvw.3_Missense_Mutation_p.P19S NM_022453 NP_071898 Q96BH1 RNF25_HUMAN Homo sapiens ring finger protein 25 (RNF25), mRNA. 131 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGCCATGAGGGATGTTGTTA 0.512000 27 11 0 0 0.000978159 0 0 SLC13A5 284111 broad.mit.edu 37 17 6604350 6604350 + Nonsense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:6604350C>T uc002gdj.3 - 5 900 c.812G>A c.(811-813)tGg>tAg p.W271* SLC13A5_uc010clq.3_Nonsense_Mutation_p.W228*|SLC13A5_uc002gdk.3_Nonsense_Mutation_p.W254*|SLC13A5_uc010vtf.2_Nonsense_Mutation_p.W271*|SLC13A5_uc002gdl.1_Nonsense_Mutation_p.W253* NM_177550 NP_808218 Q86YT5 S13A5_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA. 271 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 AAACTGGAGCCACAGCCAGGC 0.473000 24 18 0 0 0.00121646 0 0 LMO7 4008 broad.mit.edu 37 13 76427445 76427446 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr13:76427445_76427446GG>AA uc021rkq.1 + 27 4917_4918 c.4582_4583GG>AA c.(4582-4584)ggt>AAt p.G1528N LMO7_uc010thv.2_Missense_Mutation_p.G1246N|LMO7_uc001vjv.3_Missense_Mutation_p.G1295N|LMO7_uc010thw.2_Missense_Mutation_p.G1172N NM_005358 NP_005349 Q8WWI1 LMO7_HUMAN Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA. 1580 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) CTCCACCACAGGTGTGGCCACC 0.609000 13 4 0 0 6.4e-05 0 0 IL3 3562 broad.mit.edu 37 5 131398406 131398406 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:131398406G>A uc003kwe.1 + 4 434 c.381G>A c.(379-381)cgG>cgA p.R127R NM_000588 NP_000579 P08700 IL3_HUMAN Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA. 127 cell-cell signaling|immune response|nervous system development|positive regulation of DNA replication|positive regulation of cell proliferation|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|growth factor activity|interleukin-3 receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2) 10 all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105) Amlexanox(DB01025) ATGAATTCCGGAGGAAACTGA 0.483000 OREG0016762 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 43 0 0 0.000509022 0 0 IFT172 26160 broad.mit.edu 37 2 27684212 27684212 + Missense_Mutation SNP C T T rs148237432 TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:27684212C>T uc002rku.3 - 21 2417 c.2366G>A c.(2365-2367)cGa>cAa p.R789Q NM_015662 NP_056477 Q9UG01 IF172_HUMAN Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA. 789 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CAGTTCCTCTCGGGTCAGCAC 0.567000 26 29 0 0 0.001512 0 0 GZMK 3003 broad.mit.edu 37 5 54320538 54320538 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:54320538C>T uc003jpl.1 + 1 159 c.115C>T c.(115-117)Cca>Tca p.P39S NM_002104 NP_002095 P49863 GRAK_HUMAN Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA. 39 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TCATTCCAGGCCATTTATGGC 0.448000 6 12 0 0 0.000151284 0 0 DDX19B 11269 broad.mit.edu 37 16 70404177 70404177 + Nonsense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:70404177C>T uc002eys.3 + 9 1204 c.1075C>T c.(1075-1077)Cag>Tag p.Q359* DDX19B_uc010cfq.1_Nonsense_Mutation_p.Q113*|DDX19B_uc010cfs.3_Nonsense_Mutation_p.Q181*|DDX19B_uc010vlz.2_Nonsense_Mutation_p.Q327*|DDX19B_uc002eyv.3_Nonsense_Mutation_p.Q358*|DDX19B_uc010cfr.3_Nonsense_Mutation_p.Q208*|DDX19B_uc010vma.2_Nonsense_Mutation_p.Q268* NM_007242 NP_009173 Q9UMR2 DD19B_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA. 359 Helicase C-terminal. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|RNA binding|protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) AGAAGGCCACCAGGTGGCTCT 0.483000 19 13 0 0 0.00136819 0 0 ATMIN 23300 broad.mit.edu 37 16 81077593 81077594 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:81077593_81077594GG>AA uc002ffz.1 + 3 1508_1509 c.1490_1491GG>AA c.(1489-1491)ggg>gAA p.G497E ATMIN_uc002fga.2_Missense_Mutation_p.G339E|ATMIN_uc010vnn.1_Missense_Mutation_p.G268E|ATMIN_uc002fgb.1_Missense_Mutation_p.G339E NM_015251 NP_056066 O43313 ATMIN_HUMAN Homo sapiens ATM interactor (ATMIN), mRNA. 497 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 CAAACCAGTGGGATAGAAAGTC 0.450000 29 17 0 0 6.4e-05 0 0 MYH1 4619 broad.mit.edu 37 17 10408560 10408560 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:10408560C>T uc002gmo.3 - 20 2449 c.2355G>A c.(2353-2355)ctG>ctA p.L785L AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 785 IQ. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCAGCTGGGCCAGCTTCTCAT 0.438000 13 13 0 0 0.000151284 0 0 CYP2A6 1548 broad.mit.edu 37 19 41352829 41352829 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:41352829G>A uc002opl.4 - 4 803 c.782C>T c.(781-783)cCc>cTc p.P261L CYP2A6_uc010ehe.1_Missense_Mutation_p.P57L|CYP2A6_uc010ehf.1_Non-coding_Transcript NM_000762 NP_000753 P11509 CP2A6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA. 261 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) TGGGGAATTGGGATCCAGCGT 0.572000 30 18 0 0 0.00152264 0 0 IMPG1 3617 broad.mit.edu 37 6 76660470 76660470 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:76660470G>A uc003pik.1 - 12 1763 c.1633C>T c.(1633-1635)Cat>Tat p.H545Y NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 545 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TCCAAGAAATGATCTGGGACA 0.488000 21 16 0 0 0.000958276 0 0 MAN2B2 23324 broad.mit.edu 37 4 6588780 6588780 + Missense_Mutation SNP T A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:6588780T>A uc003gjf.1 + 3 485 c.449T>A c.(448-450)gTt>gAt p.V150D MAN2B2_uc003gje.1_Missense_Mutation_p.V150D|MAN2B2_uc011bwf.1_Missense_Mutation_p.V150D NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA. 150 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 TCCTGGCACGTTGACCCGTTT 0.622000 22 12 0 0 0.000219431 0 0 BRMS1 25855 broad.mit.edu 37 11 66108330 66108330 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:66108330C>T uc001oho.1 - 5 597 c.450G>A c.(448-450)ctG>ctA p.L150L BRMS1_uc001ohp.1_Silent_p.L150L|BRMS1_uc009yre.3_5'UTR NM_001024957 NP_001020128 Q9HCU9 BRMS1_HUMAN Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA. 150 apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 CATAGAGCAGCAGCTTCTCAC 0.632000 12 6 0 0 0.00116845 0 0 SLC6A17 388662 broad.mit.edu 37 1 110735292 110735292 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:110735292C>T uc009wfq.3 + 7 1732 c.1271C>T c.(1270-1272)cCc>cTc p.P424L SLC6A17_uc001dze.1_Missense_Mutation_p.P22L NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA. 424 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GGCCTTGACCCCTGCCTTCTG 0.607000 15 9 0 0 0.000442599 0 0 COL4A6 1288 broad.mit.edu 37 X 107408127 107408128 + Missense_Mutation DNP GG AT AT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrX:107408127_107408128GG>AT uc004enw.4 - 38 4055_4056 c.3952_3953CC>AT c.(3952-3954)cct>ATt p.P1318I COL4A6_uc004env.4_Missense_Mutation_p.P1317I|COL4A6_uc011msn.2_Missense_Mutation_p.P1293I|COL4A6_uc010npk.3_Missense_Mutation_p.P1293I NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 1318 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TAGCTCTCCAGGGAGGCCAGAA 0.599000 Alport syndrome with Diffuse Leiomyomatosis 4 14 0 0 6.4e-05 0 0 UNC79 57578 broad.mit.edu 37 14 94053205 94053205 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:94053205G>A uc001ybv.1 + 18 2535 c.2452G>A c.(2452-2454)Gat>Aat p.D818N UNC79_uc001ybs.1_Missense_Mutation_p.D818N NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 995 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGCCAGAAAAGATCACCCTCA 0.368000 70 55 0 0 0.000781405 0 0 CRB1 23418 broad.mit.edu 37 1 197411332 197411332 + Silent SNP G T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:197411332G>T uc001gtz.3 + 10 4124 c.3915G>T c.(3913-3915)ccG>ccT p.P1305P CRB1_uc010poz.2_Silent_p.P1281P|CRB1_uc009wza.3_Silent_p.P1193P|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.P769P|CRB1_uc010ppd.2_Silent_p.P786P|CRB1_uc001gub.1_3'UTR NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1305 EGF-like 19; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.P1305Q(1)|p.P1305A(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CCTCTGATCCGTGTGTCAATG 0.493000 96 37 3.61848e-18 2.60141e-17 0.00170553 1 0 DNMT3B 1789 broad.mit.edu 37 20 31375128 31375128 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:31375128G>A uc002wyc.3 + 5 846 c.525G>A c.(523-525)gaG>gaA p.E175E DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.E175E|DNMT3B_uc002wye.3_Silent_p.E175E|DNMT3B_uc010ztz.2_Silent_p.E133E|DNMT3B_uc010zua.2_Silent_p.E99E|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.E187E NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA. 175 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ACGACACAGAGGACACACATG 0.657000 42 22 0 0 0.000375601 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935815 151935815 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrX:151935815G>A uc022chl.1 - 0 352 c.352C>T c.(352-354)Cat>Tat p.H118Y MAGEA3_uc004fgp.3_Missense_Mutation_p.H118Y NM_005362 NP_005353 P43357 MAGA3_HUMAN Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA. 118 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) AGCAGAAAATGAACCAACTCG 0.537000 9 47 0 0 0.000781405 0 0 GSR 2936 broad.mit.edu 37 8 30550507 30550507 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:30550507C>T uc003xih.2 - 7 995 c.861G>A c.(859-861)gtG>gtA p.V287V GSR_uc022ato.1_Silent_p.V287V|GSR_uc022atp.1_Intron|GSR_uc022atq.1_Intron NM_000637 NP_000628 P00390 GSHR_HUMAN Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA. 287 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 23 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) TCAGCACCTCCACGCCAGCGT 0.527000 18 24 0 0 0.00106085 0 0 DSCR9 257203 broad.mit.edu 37 21 38593925 38593925 + RNA SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr21:38593925G>A uc010gnk.2 + 0 c.1037G>A Homo sapiens mRNA, complete cds. TACTCTGCATGAAGCCCTGGG 0.512000 8 15 0 0 0.000219431 0 0 PIGO 84720 broad.mit.edu 37 9 35093549 35093549 + Missense_Mutation SNP T A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr9:35093549T>A uc003zwd.3 - 4 1204 c.808A>T c.(808-810)Aca>Tca p.T270S PIGO_uc003zwe.3_Missense_Mutation_p.T270S|PIGO_uc003zwf.3_Missense_Mutation_p.T270S|PIGO_uc003zwc.1_Missense_Mutation_p.T270S|PIGO_uc003zwg.2_5'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA. 270 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ACCAGCAGTGTGTCATTCTCC 0.483000 1 8 0 0 0.000673444 0 0 MYH7B 57644 broad.mit.edu 37 20 33586218 33586218 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:33586218G>A uc002xbi.2 + 32 4311 c.3994G>A c.(3994-3996)Gaa>Aaa p.E1332K NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 1290 membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) ACTACAGACGGAAAGCGGTGA 0.657000 35 49 0 0 0.000781405 0 0 UTP20 27340 broad.mit.edu 37 12 101679413 101679413 + Splice_Site SNP C T T rs143038674 TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:101679413C>T uc001tia.1 + 3 349 c.193_splice c.e3+1 p.G65_splice UTP20_uc009ztz.1_Splice_Site_p.G65_splice NM_014503 NP_055318 O75691 UTP20_HUMAN Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA. 65 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CAGAACACTTCGGTATTTTCT 0.333000 28 26 0 0 0.000720815 0 0 LIPF 8513 broad.mit.edu 37 10 90429622 90429622 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr10:90429622C>T uc001kfg.2 + 4 565 c.451C>T c.(451-453)Cca>Tca p.P151S LIPF_uc001kfh.2_Missense_Mutation_p.P128S|LIPF_uc010qmt.2_Missense_Mutation_p.P161S|LIPF_uc010qmu.2_Missense_Mutation_p.P118S NM_004190 NP_004181 P07098 LIPG_HUMAN Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA. 151 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) ATATGACCTTCCAGCCACAAT 0.383000 14 36 0 0 0.00128727 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813746 100813746 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:100813746G>A uc010svi.2 + 11 1892 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K SLC17A8_uc009ztx.3_Missense_Mutation_p.E477K NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA. 527 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TGACCAGGACGAATTAGCTGA 0.468000 9 7 0 0 8.12818e-05 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576582 158576582 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:158576582G>A uc010pio.2 + 0 354 c.354G>A c.(352-354)atG>atA p.M118I NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TGGCTGCCATGGGCTTTGACA 0.552000 21 11 0 0 0.000978159 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995461 57995461 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:57995461C>T uc010rkd.2 - 0 930 c.887G>A c.(886-888)aGc>aAc p.S296N NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA. 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) GTTCCTAAGGCTGTAAAGCAA 0.547000 54 31 0 0 0.000339439 0 0 PNPLA4 8228 broad.mit.edu 37 X 7868853 7868853 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrX:7868853G>A uc011mhq.1 - 6 798 c.636C>T c.(634-636)tcC>tcT p.S212S PNPLA4_uc011mhr.1_Silent_p.S212S|PNPLA4_uc011mhs.1_Silent_p.S125S NM_004650 NP_001166143 P41247 PLPL4_HUMAN Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA. 212 lipid catabolic process triglyceride lipase activity kidney(1)|large_intestine(3)|lung(2)|prostate(1) 7 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) GGTTTGCCAGGGACAACTAGA 0.358000 2 6 0 0 0.000157383 0 0 PCSK6 5046 broad.mit.edu 37 15 101929704 101929704 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:101929704C>T uc002bxa.2 - 9 1586 c.1272G>A c.(1270-1272)atG>atA p.M424I PCSK6_uc010bpd.3_Missense_Mutation_p.M295I|PCSK6_uc002bwy.3_Missense_Mutation_p.M424I|PCSK6_uc010bpe.3_Missense_Mutation_p.M421I|PCSK6_uc002bxb.2_Missense_Mutation_p.M424I|PCSK6_uc002bxc.1_Missense_Mutation_p.M424I|PCSK6_uc002bxd.1_Missense_Mutation_p.M424I|PCSK6_uc002bxe.3_Missense_Mutation_p.M424I|PCSK6_uc002bxg.1_Missense_Mutation_p.M424I NM_138320 NP_612193 P29122 PCSK6_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA. 425 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGCCCGCCACCATGGGGGCAG 0.502000 90 17 0 0 0.000958276 0 0 PIBF1 10464 broad.mit.edu 37 13 73491275 73491275 + Silent SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr13:73491275C>A uc001vjc.3 + 12 2006 c.1701C>A c.(1699-1701)ccC>ccA p.P567P PIBF1_uc001vjb.3_Silent_p.P567P|PIBF1_uc010aep.3_Silent_p.P26P NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA. 567 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) CTAATGTTCCCACAACAGCCA 0.299000 101 6 0.000274275 0.00192889 0.000274275 1 0 NPFF 8620 broad.mit.edu 37 12 53900650 53900651 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:53900650_53900651CC>TT uc001sdw.1 - 2 415_416 c.251_252GG>AA c.(250-252)tgg>tAA p.W84* NM_003717 NP_003708 O15130 NPFF_HUMAN Homo sapiens neuropeptide FF-amide peptide precursor (NPFF), mRNA. 84 neuropeptide signaling pathway|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1) 3 ATTCATTCCTCCAGGATCCCTG 0.564000 50 28 0 0 6.4e-05 0 0 SCN9A 6335 broad.mit.edu 37 2 167162345 167162345 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:167162345G>A uc010fpl.3 - 4 894 c.553C>T c.(553-555)Cgt>Tgt p.R185C SCN9A_uc002udr.1_Missense_Mutation_p.R56C|SCN9A_uc002uds.1_Missense_Mutation_p.R56C|SCN9A_uc002udt.1_Missense_Mutation_p.R56C NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 185 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CACGGGTCACGAAGAAAAGTG 0.378000 35 38 0 0 0.00148497 0 0 ASIC2 40 broad.mit.edu 37 17 32483320 32483320 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:32483320C>T uc002hhu.3 - 0 506 c.232G>A c.(232-234)Gaa>Aaa p.E78K NM_001094 NP_001085 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA. 78 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GCCACCACTTCGTCCACCTTA 0.582000 18 9 0 0 0.000673444 0 0 C1S 716 broad.mit.edu 37 12 7177593 7177593 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:7177593G>A uc001qsj.3 + 14 2424 c.1705G>A c.(1705-1707)Ggc>Agc p.G569S C1S_uc001qsk.3_Missense_Mutation_p.G569S|C1S_uc001qsl.3_Missense_Mutation_p.G569S|C1S_uc009zfr.3_Missense_Mutation_p.G402S|C1S_uc009zfs.3_Non-coding_Transcript NM_201442 NP_958850 P09871 C1S_HUMAN Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA. 569 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) ACTGATCTCAGGCTGGGGCCG 0.532000 8 7 0 0 8.12818e-05 0 0 ZNF791 163049 broad.mit.edu 37 19 12738711 12738711 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:12738711C>T uc002mua.2 + 3 530 c.368C>T c.(367-369)aCt>aTt p.T123I ZNF791_uc010xml.1_Missense_Mutation_p.T91I|ZNF791_uc010dyu.1_Missense_Mutation_p.T14I|ZNF791_uc010xmm.1_Missense_Mutation_p.T14I NM_153358 NP_699189 Q3KP31 ZN791_HUMAN Homo sapiens zinc finger protein 791 (ZNF791), mRNA. 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 AGGTCTCACACTGGATACGAG 0.423000 72 58 0 0 0.000781405 0 0 MFSD2B 388931 broad.mit.edu 37 2 24239723 24239723 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:24239723G>A uc002reo.2 + 3 370 c.356G>A c.(355-357)gGc>gAc p.G119D MFSD2B_uc010exz.2_Non-coding_Transcript NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA. 119 transport integral to membrane cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 AGGGTGCTGGGCTGCACCCCC 0.657000 10 18 0 0 0.000229342 0 0 SLC25A48 153328 broad.mit.edu 37 5 135207568 135207568 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:135207568C>T uc003laz.1 + 4 1012 c.840C>T c.(838-840)ctC>ctT p.L280L SLC25A48_uc003lba.3_Intron Q6ZT89 S2548_HUMAN Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA. 0 transmembrane transport integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 CCGGCCCTCTCCCACCTCAGT 0.507000 17 11 0 0 0.00136819 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534969 96534969 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr10:96534969G>A uc010qnz.2 + 1 323 c.323G>A c.(322-324)aGa>aAa p.R108K CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.R86K NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 108 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) AGAGCTAACAGAGGATTTGGT 0.517000 8 20 0 0 0.00047179 0 0 TRA 0 broad.mit.edu 37 14 22192426 22192426 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:22192426G>A uc021rpa.1 + 1 329 c.201G>A c.(199-201)ctG>ctA p.L67L TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36. AGTTCCTTCTGAAATACATCA 0.453000 30 23 0 0 0.00127121 0 0 FCRL6 343413 broad.mit.edu 37 1 159778988 159778988 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:159778988G>A uc001fud.4 + 3 599 c.557G>A c.(556-558)gGt>gAt p.G186D FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.G193D|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.3_Missense_Mutation_p.G186D NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Homo sapiens Fc receptor-like 6 (FCRL6), mRNA. 186 Ig-like C2-type 2. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) GCCCCTGAGGGTGGCCAGGTC 0.662000 9 29 0 0 0.000814825 0 0 ZNF568 374900 broad.mit.edu 37 19 37440953 37440953 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:37440953C>T uc002ofc.3 + 6 1416 c.898C>T c.(898-900)Cat>Tat p.H300Y ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.H299Y|ZNF568_uc002ofd.3_Missense_Mutation_p.H236Y|ZNF568_uc010efe.3_Missense_Mutation_p.H236Y|ZNF568_uc010eff.2_Intron NM_198539 NP_001191766 Q3ZCX4 ZN568_HUMAN Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA. 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCACAGAATTCATACTGGGGA 0.378000 14 16 0 0 0.000958276 0 0 DAZAP1 26528 broad.mit.edu 37 19 1434783 1434783 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:1434783C>T uc002lsn.3 + 11 1285 c.1096C>T c.(1096-1098)Ccc>Tcc p.P366S DAZAP1_uc002lsm.3_3'UTR NM_018959 NP_061832 Q96EP5 DAZP1_HUMAN Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA. 366 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus RNA binding|nucleotide binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTCTCAGACCCCAGCCAGCA 0.697000 20 8 0 0 0.000442599 0 0 IRF6 3664 broad.mit.edu 37 1 209974644 209974644 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:209974644G>A uc001hhq.2 - 2 419 c.115C>T c.(115-117)Ccc>Tcc p.P39S IRF6_uc010psm.2_Intron NM_006147 NP_001193625 O14896 IRF6_HUMAN Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA. 39 P -> A (in VWS). cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TGTTTCCAGGGAATCTGGAAG 0.512000 HNSCC(57;0.16) 85 29 0 0 0.001512 0 0 AKAP17A 8227 broad.mit.edu 37 X 1718147 1718147 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrX:1718147G>A uc004cqa.3 + 3 1170 c.974G>A c.(973-975)aGg>aAg p.R325K AKAP17A_uc010ncx.1_Missense_Mutation_p.R325K|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_Intron NM_005088 NP_005079 Q02040 AK17A_HUMAN Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA. 325 B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction nuclear speck|spliceosomal complex RNA binding|nucleotide binding|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 CTTCGCAAGAGGGAGCAGAAG 0.577000 17 14 0 0 0.000151284 0 0 NR2E1 7101 broad.mit.edu 37 6 108497890 108497891 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:108497890_108497891CC>TT uc003psg.3 + 3 1198_1199 c.443_444CC>TT c.(442-444)tcc>tTT p.S148F NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA. 148 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) GCCGCGGTGTCCACCACTCCAG 0.718000 0 7 0 0 6.4e-05 0 0 HRNR 388697 broad.mit.edu 37 1 152191811 152191811 + Missense_Mutation SNP T G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:152191811T>G uc001ezt.1 - 2 2370 c.2294A>C c.(2293-2295)cAc>cCc p.H765P NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 765 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGTCGGCCGTGGCCCGAAGA 0.592000 56 11 0 0 0.000978159 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449164 104449164 + Missense_Mutation SNP C T T rs145326290 by1000genomes TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr9:104449164C>T uc004bbp.2 - 1 1619 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K GRIN3A_uc004bbq.1_Missense_Mutation_p.E340K NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 340 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GTTGTAATTTCGAAAATCCGC 0.517000 4 21 0 0 0.000229342 0 0 MUC5B 727897 broad.mit.edu 37 11 1268882 1268882 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:1268882C>T uc001lta.3 + 30 10831 c.10772C>T c.(10771-10773)tCt>tTt p.S3591F NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3591 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCGGGGCCCTCTGGCGGGGAC 0.682000 26 15 0 0 0.000958276 0 0 PRR16 51334 broad.mit.edu 37 5 120022371 120022371 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:120022371G>A uc003ksq.3 + 1 1045 c.882G>A c.(880-882)acG>acA p.T294T PRR16_uc003ksp.3_Silent_p.T271T|PRR16_uc003ksr.3_Silent_p.T224T NM_016644 NP_057728 Q569H4 PRR16_HUMAN Homo sapiens proline rich 16 (PRR16), mRNA. 294 endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CACAGAAGACGATCTTGAGGA 0.398000 11 10 0 0 0.000151284 0 0 C17orf102 400591 broad.mit.edu 37 17 32904560 32904560 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:32904560C>T uc002hie.1 - 1 579 c.490G>A c.(490-492)Gaa>Aaa p.E164K NM_207454 NP_997337 A2RUQ5 CQ102_HUMAN Homo sapiens chromosome 17 open reading frame 102 (C17orf102), mRNA. 164 central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1) 9 aaagttagttccatgaggaca 0.458000 11 6 0 0 0.00116845 0 0 C17orf74 201243 broad.mit.edu 37 17 7329697 7329697 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:7329697C>T uc002ggw.3 + 2 460 c.387C>T c.(385-387)cgC>cgT p.R129R SPEM1_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA. 129 Arg-rich. integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) gccgccgccgccgccaccgcc 0.597000 28 19 0 0 0.000229342 0 0 MGA 23269 broad.mit.edu 37 15 42042693 42042693 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:42042693C>T uc010ucy.2 + 16 7069 c.6888C>T c.(6886-6888)ttC>ttT p.F2296F MGA_uc010ucz.2_Silent_p.F2087F|MGA_uc010uda.1_Silent_p.F912F|MGA_uc001zoi.3_Silent_p.F510F NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 2257 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GTGCTGACTTCACTGTTTTGG 0.423000 11 11 0 0 0.000978159 0 0 SPATS1 221409 broad.mit.edu 37 6 44310885 44310885 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:44310885C>T uc021yzz.1 + 1 154 c.53C>T c.(52-54)tCc>tTc p.S18F TMEM151B_uc003oxg.3_Intron|SPATS1_uc010jzb.3_5'UTR|SPATS1_uc003oxk.3_Missense_Mutation_p.S18F NM_145026 NP_659463 Q496A3 SPAS1_HUMAN Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA. 18 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CGTCTCCCCTCCATCTCAAGC 0.512000 34 33 0 0 0.000409698 0 0 DOCK1 1793 broad.mit.edu 37 10 128841377 128841377 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr10:128841377C>T uc010qun.2 + 20 2214 c.2150C>T c.(2149-2151)cCt>cTt p.P717L DOCK1_uc001ljt.3_Missense_Mutation_p.P696L NM_001380 NP_001371 Q14185 DOCK1_HUMAN Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA. 696 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CATTTTAATCCTGTTTTGGAA 0.289000 4 12 0 0 0.000308642 0 0 C15orf2 23742 broad.mit.edu 37 15 24923572 24923572 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:24923572G>A uc001ywo.3 + 0 3032 c.2558G>A c.(2557-2559)gGg>gAg p.G853E NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 853 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TTTTATATGGGGCTTCCTGGT 0.493000 30 25 0 0 0.000720815 0 0 NBPF1 55672 broad.mit.edu 37 1 16893770 16893770 + Missense_Mutation SNP A C C TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:16893770A>C uc009vos.1 - 24 3631 c.2743T>G c.(2743-2745)Tca>Gca p.S915A NBPF1_uc009vot.1_Missense_Mutation_p.S373A|NBPF1_uc001ayz.1_Missense_Mutation_p.S373A|NBPF1_uc010oce.1_Missense_Mutation_p.S644A NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 915 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AGATAACCTGAAGGAGTTGAA 0.488000 464 10 0 0 0.000978159 0 0 USP6NL 9712 broad.mit.edu 37 10 11505081 11505081 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr10:11505081G>A uc001iks.1 - 13 1940 c.1897C>T c.(1897-1899)Ccg>Tcg p.P633S USP6NL_uc001ikt.3_Missense_Mutation_p.P616S NM_001080491 NP_001073960 Q92738 US6NL_HUMAN Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA. 616 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 AGCTGGGACGGATATCGTGCA 0.527000 9 17 0 0 0.000958276 0 0 AK7 122481 broad.mit.edu 37 14 96924440 96924440 + Missense_Mutation SNP C G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:96924440C>G uc001yfn.2 + 11 1292 c.1248C>G c.(1246-1248)aaC>aaG p.N416K NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 416 Adenylate kinase. cell projection organization cytosol ATP binding|adenylate kinase activity|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TTGCCCCTAACGATGTagggg 0.507000 18 11 0 0 0.000673444 0 0 CACNA1E 777 broad.mit.edu 37 1 181764090 181764090 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:181764090G>A uc009wxt.3 + 45 6313 c.6118G>A c.(6118-6120)Gag>Aag p.E2040K CACNA1E_uc001gow.3_Missense_Mutation_p.E1997K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1978K NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2040 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.R2040W(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ATTCTCCATGGAGCGAAGCAG 0.522000 23 36 0 0 0.00170553 0 0 COL7A1 1294 broad.mit.edu 37 3 48626333 48626333 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:48626333C>T uc003ctz.2 - 17 2411 c.2410G>A c.(2410-2412)Gct>Act p.A804T NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 804 Fibronectin type-III 7.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGTCTGTAAGCTGTGGCTCCA 0.622000 14 37 0 0 0.000692331 0 0 ZPBP2 124626 broad.mit.edu 37 17 38031536 38031536 + Silent SNP G A A rs35369677 byFrequency TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:38031536G>A uc002hte.3 + 6 891 c.738G>A c.(736-738)cgG>cgA p.R246R ZPBP2_uc002htf.3_Silent_p.R224R NM_199321 NP_955353 Q6X784 ZPBP2_HUMAN Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA. 246 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) ACTTTTTTCGGAGCCAAGCAT 0.373000 42 19 0 0 0.000229342 0 0 H2AFJ 55766 broad.mit.edu 37 12 14927698 14927698 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:14927698G>A uc009zia.3 + 0 429 c.294G>A c.(292-294)ctG>ctA p.L98L H2AFJ_uc001rch.4_Non-coding_Transcript NM_177925 NP_808760 Q9BTM1 H2AJ_HUMAN Homo sapiens H2A histone family, member J (H2AFJ), transcript variant 1, mRNA. 98 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1) 5 ACAAGCTGCTGGGCAAAGTGA 0.597000 30 20 0 0 0.000586117 0 0 FGFR4 2264 broad.mit.edu 37 5 176519776 176519776 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:176519776G>A uc003mfl.3 + 7 1215 c.1048G>A c.(1048-1050)Gtg>Atg p.V350M FGFR4_uc003mfm.3_Missense_Mutation_p.V350M|FGFR4_uc011dfu.2_Missense_Mutation_p.V350M|FGFR4_uc011dfw.1_Missense_Mutation_p.V350M|FGFR4_uc003mfo.3_Missense_Mutation_p.V350M NM_002011 NP_998812 P22455 FGFR4_HUMAN Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA. 350 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CTGGCTCACGGTGCTGCCAGG 0.647000 TSP Lung(9;0.080) 19 10 0 0 0.000978159 0 0 MRVI1 10335 broad.mit.edu 37 11 10615060 10615060 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:10615060G>A uc010rcc.1 - 16 2540 c.2154C>T c.(2152-2154)tcC>tcT p.S718S MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Silent_p.S710S|MRVI1_uc001miw.2_Silent_p.S709S|MRVI1_uc001mix.3_Silent_p.S403S|MRVI1_uc001miz.2_Silent_p.S627S|MRVI1_uc010rcd.1_Silent_p.S512S|MRVI1_uc009ygd.1_Silent_p.S403S|MRVI1_uc010rce.1_Non-coding_Transcript NM_130385 NP_569056 Q9Y6F6 MRVI1_HUMAN Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA. 691 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) AGGAGGGAATGGATGATGAGC 0.517000 20 12 0 0 0.000219431 0 0 RNPEPL1 57140 broad.mit.edu 37 2 241513566 241513566 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:241513566C>T uc002vzi.3 + 4 975 c.282C>T c.(280-282)atC>atT p.I94I RNPEPL1_uc002vzj.3_5'Flank NM_018226 NP_060696 Q9HAU8 RNPL1_HUMAN Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA. 94 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) CCTTCCCCATCGTGGCCATGG 0.622000 33 5 0 0 8.12818e-05 0 0 OR10A3 26496 broad.mit.edu 37 11 7960996 7960996 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:7960996C>T uc010rbi.2 - 0 72 c.72G>A c.(70-72)caG>caA p.Q24Q NM_001003745 NP_001003745 P58181 O10A3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA. 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGAGCTGCACCTGGAGCTCAG 0.408000 16 7 0 0 8.12818e-05 0 0 OR4D9 390199 broad.mit.edu 37 11 59283128 59283128 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:59283128C>T uc010rkv.2 + 0 743 c.743C>T c.(742-744)aCc>aTc p.T248I NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA. 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 ACCGTGGTGACCCTGCATTTC 0.557000 47 26 0 0 0.000720815 0 0 CLTCL1 8218 broad.mit.edu 37 22 19196487 19196487 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:19196487G>A uc021wle.1 - 20 3462 c.3387C>T c.(3385-3387)atC>atT p.I1129I CLTCL1_uc021wld.1_Silent_p.I1129I|CLTCL1_uc021wlc.1_Silent_p.I1129I|CLTCL1_uc021wlf.1_Silent_p.I1129I|CLTCL1_uc011agw.1_Silent_p.I1129I|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_5'UTR|CLTCL1_uc002zpd.1_Silent_p.I89I|CLTCL1_uc002zpe.2_Silent_p.I89I NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 1129 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CGTCCCCTCTGATATAGGAGT 0.537000 T ? ALCL 12 4 0 0 0.000602214 0 0 MYH2 4620 broad.mit.edu 37 17 10436640 10436640 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:10436640G>A uc010coi.3 - 20 2531 c.2403C>T c.(2401-2403)ttC>ttT p.F801F AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.F801F|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 801 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTCTTGCCAAGAACCCTCTGC 0.458000 27 19 0 0 0.00121646 0 0 CSTL1 128817 broad.mit.edu 37 20 23421056 23421056 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:23421056C>T uc002wte.3 + 1 398 c.152C>T c.(151-153)tCc>tTc p.S51F CSTL1_uc010zsu.2_Non-coding_Transcript|CSTL1_uc010zsv.2_Non-coding_Transcript NM_138283 NP_612140 Q9H114 CST1L_HUMAN Homo sapiens cystatin-like 1 (CSTL1), mRNA. 51 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1) 14 Colorectal(13;0.0993)|Lung NSC(19;0.235) TTCATTCAATCCTACAACAAT 0.478000 38 55 0 0 0.000781405 0 0 RRP12 23223 broad.mit.edu 37 10 99156022 99156022 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr10:99156022G>A uc001knf.3 - 2 545 c.406C>T c.(406-408)Cgc>Tgc p.R136C RRP12_uc010qou.2_Missense_Mutation_p.R136C|RRP12_uc009xvn.3_Missense_Mutation_p.R136C NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA. 136 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CCCTGGGAGCGAATCACCTCA 0.562000 5 17 0 0 0.00152264 0 0 HK3 3101 broad.mit.edu 37 5 176308797 176308797 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:176308797G>A uc003mfa.3 - 16 2381 c.2289C>T c.(2287-2289)atC>atT p.I763I HK3_uc003mez.3_Silent_p.I319I NM_002115 NP_002106 P52790 HXK3_HUMAN Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA. 763 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AATGTAAAAGGATGTGGCGGA 0.552000 29 20 0 0 0.00121646 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187703747 187703747 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:187703747C>T uc002upu.1 - 3 473 c.433G>A c.(433-435)Gat>Aat p.D145N NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 145 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GAGCAGATATCCTCTGAATCA 0.358000 39 40 0 0 0.000781405 0 0 CNOT10 25904 broad.mit.edu 37 3 32811394 32811394 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:32811394C>T uc011axj.1 + 17 2277 c.2200C>T c.(2200-2202)Cat>Tat p.H734Y CNOT10_uc003cfc.1_Missense_Mutation_p.H674Y|CNOT10_uc003cfd.1_Missense_Mutation_p.H673Y|CNOT10_uc003cfe.1_Missense_Mutation_p.H647Y|CNOT10_uc010hfv.1_Intron|CNOT10_uc010hfw.1_Missense_Mutation_p.H369Y NM_015442 NP_056257 Q9H9A5 CNOTA_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA. 674 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 TTCAATGATCCATCCTAAAGA 0.448000 47 54 0 0 0.000781405 0 0 ZNF643 65243 broad.mit.edu 37 1 40928242 40928242 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:40928242G>A uc001cfn.2 + 4 883 c.586G>A c.(586-588)Gaa>Aaa p.E196K ZNF643_uc001cfl.2_Missense_Mutation_p.E94K|ZNF643_uc001cfm.2_Missense_Mutation_p.E62K NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN Homo sapiens zinc finger protein 643 (ZNF643), mRNA. 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) TAATAAGCTAGAAAGCCAACA 0.418000 49 49 0 0 0.000781405 0 0 TRPV4 59341 broad.mit.edu 37 12 110236480 110236480 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:110236480G>A uc001tpj.2 - 4 1186 c.1091C>T c.(1090-1092)gCc>gTc p.A364V TRPV4_uc001tpg.2_Missense_Mutation_p.A330V|TRPV4_uc021rdp.1_Missense_Mutation_p.A364V|TRPV4_uc001tph.2_Missense_Mutation_p.A317V|TRPV4_uc001tpi.2_Missense_Mutation_p.A317V|TRPV4_uc001tpk.2_Missense_Mutation_p.A364V NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. 364 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GTTGAGCACGGCCTCCAGGTT 0.592000 16 18 0 0 0.000375601 0 0 TDRD9 122402 broad.mit.edu 37 14 104493225 104493226 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:104493225_104493226CC>TT uc001yom.4 + 27 3261_3262 c.3231_3232CC>TT c.(3229-3234)gtcctc>gtTTtc p.L1078F TDRD9_uc001yon.4_Missense_Mutation_p.L816F NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN Homo sapiens tudor domain containing 9 (TDRD9), mRNA. 1078 DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) TAAGAGACGTCCTCATCCAGCA 0.574000 16 14 0 0 6.4e-05 0 0 TSIX 9383 broad.mit.edu 37 X 73046495 73046495 + RNA SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrX:73046495C>T uc004ebn.2 + 0 c.34456C>T XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. CTTGGGATTTCCCCAGGTCTT 0.443000 4 31 0 0 0.000339439 0 0 GALNT9 50614 broad.mit.edu 37 12 132681656 132681656 + Missense_Mutation SNP T G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:132681656T>G uc001ukc.4 - 10 1924 c.1808A>C c.(1807-1809)cAc>cCc p.H603P GALNT9_uc009zyr.3_Missense_Mutation_p.H377P|GALNT9_uc001ukb.3_Missense_Mutation_p.H460P|GALNT9_uc001uka.3_Missense_Mutation_p.H237P NM_001122636 NP_001116108 Q9HCQ5 GALT9_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA. 603 protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) GTGGGGTCAGTGCCGTGCGTG 0.637000 34 10 0 0 0.00136819 0 0 ENO3 2027 broad.mit.edu 37 17 4859297 4859297 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:4859297C>T uc010vst.2 + 3 616 c.434C>T c.(433-435)tCg>tTg p.S145L ENO3_uc002gab.4_Missense_Mutation_p.S309L|ENO3_uc002gac.4_Missense_Mutation_p.S309L|ENO3_uc010vss.2_Missense_Mutation_p.S266L NM_001193503 NP_001180432 P13929 ENOB_HUMAN Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 3, mRNA. 309 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 TCCTTCCTCTCGGGGGTGAAC 0.577000 44 28 0 0 0.00178596 0 0 IL1RL2 8808 broad.mit.edu 37 2 102805736 102805736 + Missense_Mutation SNP T G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:102805736T>G uc002tbs.3 + 2 385 c.259T>G c.(259-261)Tgg>Ggg p.W87G IL1RL2_uc002tbt.3_Intron NM_003854 NP_003845 Q9HB29 ILRL2_HUMAN Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA. 87 Ig-like C2-type 1. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 CCCCATGGAATGGGGGGACTC 0.348000 25 13 0 0 0.000422831 0 0 KIAA1429 25962 broad.mit.edu 37 8 95502190 95502190 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:95502190G>A uc003ygo.2 - 22 5332 c.5261C>T c.(5260-5262)cCa>cTa p.P1754L KIAA1429_uc010maz.2_Non-coding_Transcript NM_015496 NP_056311 Q69YN4 VIR_HUMAN Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA. 1754 RNA splicing|mRNA processing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GGGTCGTAATGGTGGAAGAGG 0.423000 33 34 0 0 0.00170553 0 0 ARID2 196528 broad.mit.edu 37 12 46205282 46205282 + Silent SNP T G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:46205282T>G uc001ros.1 + 3 366 c.366T>G c.(364-366)ctT>ctG p.L122L ARID2_uc001ror.3_Silent_p.L122L NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 122 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGCCACAGCTTCCTATTGGTG 0.408000 """N, S, F""" hepatocellular carcinoma 17 6 0 0 8.12818e-05 0 0 SPTAN1 6709 broad.mit.edu 37 9 131329157 131329158 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr9:131329157_131329158CC>TT uc004bvl.4 + 1 280_281 c.138_139CC>TT c.(136-141)ttccag>ttTTag p.Q47* SPTAN1_uc011mbg.2_Nonsense_Mutation_p.Q47*|SPTAN1_uc011mbh.2_Nonsense_Mutation_p.Q59*|SPTAN1_uc004bvm.4_Nonsense_Mutation_p.Q47*|SPTAN1_uc004bvn.4_Nonsense_Mutation_p.Q47* NM_003127 NP_003118 Q13813 SPTA2_HUMAN Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA. 47 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CCTATCGATTCCAGTTCTTTCA 0.470000 7 60 0 0 6.4e-05 0 0 KIF21A 55605 broad.mit.edu 37 12 39752106 39752107 + Missense_Mutation DNP TT AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:39752106_39752107TT>AA uc001rly.3 - 7 1508_1509 c.1088_1089AA>TT c.(1087-1089)aaa>aTT p.K363I KIF21A_uc001rlx.3_Missense_Mutation_p.K363I|KIF21A_uc001rlz.3_Missense_Mutation_p.K363I|KIF21A_uc010skl.2_Missense_Mutation_p.K363I NM_001173464 NP_001166935 Q7Z4S6 KI21A_HUMAN Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA. 363 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) GATTGGCGTATTTCAGGGTGTT 0.401000 82 40 0 0 6.4e-05 0 0 COL11A2 1302 broad.mit.edu 37 6 33137244 33137244 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:33137244C>T uc003ocx.1 - 50 3942 c.3714G>A c.(3712-3714)gaG>gaA p.E1238E COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.E1152E|COL11A2_uc003ocz.1_Silent_p.E1131E NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1238 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ACTCTCCTTTCTCTCCACGTT 0.622000 30 14 0 0 0.000958276 0 0 DGKB 1607 broad.mit.edu 37 7 14378184 14378184 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:14378184C>T uc003ssz.3 - 21 2268 c.2081G>A c.(2080-2082)aGg>aAg p.R694K DGKB_uc011jxt.2_Missense_Mutation_p.R675K|DGKB_uc003sta.3_Missense_Mutation_p.R694K|DGKB_uc011jxu.2_Missense_Mutation_p.R693K NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA. 694 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GACGGTGGTCCTTTTGTCAGA 0.393000 90 25 0 0 0.000409698 0 0 LOC100233156 100233156 broad.mit.edu 37 GL000218.1 39963 39963 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrGL000218.1:39963C>T uc011mfn.2 - 3 443 c.354G>A c.(352-354)aaG>aaA p.K118K LOC100233156_uc003jah.2_Silent_p.K118K Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA. GAGGTTCCTCCTTGTCCTTGA 0.607000 11 5 0 0 0.000602214 0 0 HMCN1 83872 broad.mit.edu 37 1 186024788 186024788 + Missense_Mutation SNP T A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:186024788T>A uc001grq.1 + 44 7355 c.7126T>A c.(7126-7128)Tat>Aat p.Y2376N NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 2376 Ig-like C2-type 21. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGACAAAAAATATGACTTAAG 0.428000 7 24 0 0 0.000878237 0 0 ZNF556 80032 broad.mit.edu 37 19 2877867 2877867 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:2877867G>A uc002lwp.1 + 3 998 c.911G>A c.(910-912)cGa>cAa p.R304Q ZNF556_uc002lwq.3_Missense_Mutation_p.R303Q NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTTTCAACGACACGTGAGA 0.507000 22 13 0 0 0.00136819 0 0 LCMT1 51451 broad.mit.edu 37 16 25175983 25175983 + Missense_Mutation SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:25175983C>A uc002dnx.1 + 6 792 c.634C>A c.(634-636)Ctc>Atc p.L212I LCMT1_uc002dny.1_Missense_Mutation_p.L157I NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA. 212 S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) GTCCGCAAACCTCCTGAAGTG 0.443000 49 20 1.00905e-13 7.20084e-13 0.00121646 1 0 SAMD7 344658 broad.mit.edu 37 3 169637367 169637367 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:169637367G>A uc003fgd.3 + 2 348 c.81G>A c.(79-81)gtG>gtA p.V27V SAMD7_uc003fge.3_Silent_p.V27V|SAMD7_uc011bpo.2_5'UTR NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 27 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CTCCAACTGTGGACAGGTATT 0.413000 34 34 0 0 0.000953801 0 0 HFM1 164045 broad.mit.edu 37 1 91843722 91843722 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:91843722C>T uc001doa.4 - 10 1354 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K HFM1_uc010osu.2_Missense_Mutation_p.E98K|HFM1_uc010osv.1_Missense_Mutation_p.E103K|HFM1_uc001doc.1_Missense_Mutation_p.E419K NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA. 419 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CCACGATTTTCATCTTTTACA 0.289000 13 7 0 0 8.12818e-05 0 0 C8orf76 84933 broad.mit.edu 37 8 124250170 124250170 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:124250170C>T uc003yqc.2 - 2 277 c.225G>A c.(223-225)caG>caA p.Q75Q C8orf76_uc003yqd.3_Silent_p.Q43Q NM_032847 NP_116236 Q96K31 CH076_HUMAN Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA. 75 binding NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4) 17 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TGGAATACTCCTGCAGTGCTT 0.398000 43 11 0 0 0.000219431 0 0 ANKS1B 56899 broad.mit.edu 37 12 99223131 99223131 + Splice_Site SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:99223131C>T uc001tge.2 - 19 3304 c.2887_splice c.e19-1 p.E963_splice ANKS1B_uc001tgf.2_Intron|ANKS1B_uc001tgk.3_Splice_Site_p.E260_splice|ANKS1B_uc010svd.2_Splice_Site|ANKS1B_uc001tgd.2_Intron|ANKS1B_uc009ztp.3_Splice_Site|ANKS1B_uc010svf.2_Splice_Site|ANKS1B_uc010sve.2_Splice_Site|ANKS1B_uc001tgh.4_Splice_Site|ANKS1B_uc009ztr.3_Intron|ANKS1B_uc001tgj.3_Intron|ANKS1B_uc001tgi.3_Splice_Site_p.E189_splice|ANKS1B_uc009zts.2_Splice_Site_p.E189_splice|ANKS1B_uc001tgg.4_Intron|ANKS1B_uc010svg.2_Intron NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 963 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CCACTGGGTTCCTGAATGGAA 0.443000 13 11 0 0 0.00136819 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854486 18854486 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:18854486C>T uc021qvx.1 - 8 1157 c.966G>A c.(964-966)aaG>aaA p.K322K PLCZ1_uc001rdv.4_Silent_p.K218K|PLCZ1_uc001rdw.4_Silent_p.K63K|PLCZ1_uc001rdu.1_Silent_p.K104K|PLCZ1_uc009zil.1_Non-coding_Transcript NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA. 322 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CCCCTGTTTCCTTGTCTTGAT 0.408000 20 14 0 0 0.000219431 0 0 ZNF385D 79750 broad.mit.edu 37 3 21467001 21467001 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:21467001C>T uc003cce.3 - 5 1243 c.835G>A c.(835-837)Gaa>Aaa p.E279K NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 279 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 AGTTGCGTTTCCGAGTTGACG 0.413000 32 34 0 0 0.00170553 0 0 LAMA3 3909 broad.mit.edu 37 18 21523870 21523871 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr18:21523870_21523871GG>AA uc002kuq.3 + 68 9231_9232 c.9145_9146GG>AA c.(9145-9147)ggg>AAg p.G3049K LAMA3_uc002kur.3_Missense_Mutation_p.G2993K|LAMA3_uc002kus.4_Missense_Mutation_p.G1440K|LAMA3_uc002kut.4_Missense_Mutation_p.G1384K NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 3049 Laminin G-like 4. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTTGCACTGGGGACAGATGGG 0.470000 37 11 0 0 6.4e-05 0 0 GPHB5 122876 broad.mit.edu 37 14 63784530 63784530 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:63784530C>T uc021rud.1 - 1 91 c.34G>A c.(34-36)Gcc>Acc p.A12T NM_145171 NP_660154 Q86YW7 GPHB5_HUMAN Homo sapiens glycoprotein hormone beta 5 (GPHB5), mRNA. 12 extracellular region hormone activity breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) AGGAGGAGGGCCATGGGGCCA 0.582000 12 7 0 0 0.000673444 0 0 GPR98 84059 broad.mit.edu 37 5 90016856 90016856 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:90016856C>T uc003kju.3 + 44 9824 c.9728C>T c.(9727-9729)tCt>tTt p.S3243F GPR98_uc003kjt.3_Missense_Mutation_p.S949F|GPR98_uc003kjv.3_Missense_Mutation_p.S843F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3243 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GAGACAGTATCTGAAACAGCC 0.353000 35 27 0 0 0.00106085 0 0 SPRR3 6707 broad.mit.edu 37 1 152975748 152975748 + Silent SNP G A A rs61733607 byFrequency TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:152975748G>A uc021ozo.1 + 0 252 c.252G>A c.(250-252)aaG>aaA p.K84K SPRR3_uc001fax.4_Silent_p.K84K|SPRR3_uc001faz.4_Silent_p.K84K|SPRR3_uc001fay.2_Silent_p.K76K NM_005416 NP_005407 Q9UBC9 SPRR3_HUMAN Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA. 84 14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GTTGTACCAAGGTCCCTGAGC 0.597000 15 7 0 0 0.000274275 0 0 AGPS 8540 broad.mit.edu 37 2 178326699 178326699 + Missense_Mutation SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:178326699C>A uc002ull.2 + 8 996 c.949C>A c.(949-951)Cgc>Agc p.R317S AGPS_uc010zfb.1_Missense_Mutation_p.R227S NM_003659 NP_003650 O00116 ADAS_HUMAN Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA. 317 FAD-binding PCMH-type. ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity p.R317R(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) GGTATCTACTCGCGCATCAGG 0.333000 72 5 0.00116845 0.00809969 0.00116845 1 0 DMBT1 1755 broad.mit.edu 37 10 124402887 124402887 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr10:124402887C>T uc001lgk.1 + 52 7321 c.7215C>T c.(7213-7215)ccC>ccT p.P2405P DMBT1_uc001lgl.1_Silent_p.P2395P|DMBT1_uc001lgm.1_Silent_p.P1777P|DMBT1_uc021qaf.1_Silent_p.P2405P|DMBT1_uc021qag.1_Silent_p.P2395P|DMBT1_uc021qah.1_Silent_p.P1777P|DMBT1_uc009xzz.1_Silent_p.P2404P|DMBT1_uc010qtx.1_Silent_p.P1125P|DMBT1_uc009yab.1_Silent_p.P1108P|DMBT1_uc009yac.1_Silent_p.P699P NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2405 P -> A (in Ref. 5; CAC44122). epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGCAGACCCCCCCACGCCGAG 0.647000 1 10 0 0 0.000442599 0 0 SPEG 10290 broad.mit.edu 37 2 220337662 220337662 + Nonsense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:220337662C>T uc010fwg.3 + 15 3991 c.3991C>T c.(3991-3993)Cag>Tag p.Q1331* NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 1331 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGGCTCGGACCAGTGGACGGC 0.657000 18 12 0 0 0.000219431 0 0 COL4A3 1285 broad.mit.edu 37 2 228147222 228147222 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:228147222G>A uc002vom.2 + 31 2792 c.2630G>A c.(2629-2631)gGa>gAa p.G877E BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 877 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGATATCCAGGAAATCCGGGA 0.438000 26 26 0 0 0.00127121 0 0 PABPN1L 390748 broad.mit.edu 37 16 88932317 88932317 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:88932317G>A uc002fmj.3 - 1 342 c.288C>T c.(286-288)gcC>gcT p.A96A PABPN1L_uc010vpd.2_Silent_p.A96A|PABPN1L_uc010vpe.2_Silent_p.A96A|PABPN1L_uc002fmi.3_Silent_p.A96A A6NDY0 EPAB2_HUMAN Homo sapiens poly(A) binding protein, nuclear 1-like (cytoplasmic) (PABPN1L), mRNA. 96 cytoplasm RNA binding|nucleotide binding kidney(1) 1 CCTGCTCCATGGCACACACCT 0.687000 12 4 0 0 0.000602214 0 0 USP24 23358 broad.mit.edu 37 1 55599781 55599781 + Nonsense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:55599781G>A uc021onw.1 - 29 3596 c.3343C>T c.(3343-3345)Cag>Tag p.Q1115* USP24_uc001cyg.4_Nonsense_Mutation_p.Q949* NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA. 1115 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 AGGGCTTCCTGAATGGCTGGA 0.343000 5 6 0 0 0.000157383 0 0 C3orf15 89876 broad.mit.edu 37 3 119422020 119422020 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:119422020G>A uc003ede.4 + 0 152 c.75G>A c.(73-75)tcG>tcA p.S25S C3orf15_uc010hqx.1_Silent_p.S25S|C3orf15_uc003edc.2_Silent_p.S25S|C3orf15_uc010hqy.2_Silent_p.S25S|C3orf15_uc010hqz.3_5'UTR|C3orf15_uc011bjd.2_5'UTR|C3orf15_uc011bje.2_5'UTR|C3orf15_uc010hra.2_5'Flank NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA. 25 mitochondrion protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.186) GGGAGAGGTCGCGGGCTGGGA 0.642000 2 3 0 0 6.4e-05 0 0 SRD5A3 79644 broad.mit.edu 37 4 56225634 56225634 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:56225634C>T uc003hau.3 + 1 459 c.343C>T c.(343-345)Ctc>Ttc p.L115F NM_024592 NP_078868 Q9H8P0 PORED_HUMAN Homo sapiens steroid 5 alpha-reductase 3 (SRD5A3), mRNA. 115 androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) GCTCAGAATTCTCGGGGCGGC 0.522000 29 27 0 0 0.00127121 0 0 FSIP2 401024 broad.mit.edu 37 2 186672961 186672961 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:186672961G>A uc002upl.3 + 16 19195 c.19195G>A c.(19195-19197)Gaa>Aaa p.E6399K FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ATCAAATTCAGAATTAGTTCT 0.318000 15 7 0 0 8.12818e-05 0 0 ANO2 57101 broad.mit.edu 37 12 5841763 5841763 + Nonsense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:5841763G>A uc001qnm.2 - 14 1540 c.1468C>T c.(1468-1470)Cga>Tga p.R490* NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 495 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 ATTTTCTCTCGAACTTTGGTT 0.453000 22 20 0 0 0.000375601 0 0 YJEFN3 374887 broad.mit.edu 37 19 19646238 19646238 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:19646238C>T uc002nmt.2 + 4 594 c.522C>T c.(520-522)ttC>ttT p.F174F YJEFN3_uc021uqw.1_Silent_p.F173F|YJEFN3_uc010ecf.2_Silent_p.F124F|YJEFN3_uc002nmu.2_Non-coding_Transcript|CILP2_uc002nmv.4_5'Flank|CILP2_uc002nmw.4_5'Flank NM_198537 NP_940939 A6XGL0 YJEN3_HUMAN Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 174 YjeF N-terminal. NS(1)|breast(1)|lung(3) 5 ACATCCCCTTCCTGAGCTACC 0.642000 9 11 0 0 0.000151284 0 0 SLC8A2 6543 broad.mit.edu 37 19 47935679 47935679 + Missense_Mutation SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:47935679C>A uc010ele.3 - 7 2150 c.2134G>T c.(2134-2136)Ggg>Tgg p.G712W SLC8A2_uc002pgx.3_Missense_Mutation_p.G712W|SLC8A2_uc010xyq.2_Missense_Mutation_p.G468W|SLC8A2_uc010xyr.2_Missense_Mutation_p.G175W Q9UPR5 NAC2_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA. 712 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) TCCCGGGACCCGTCCTCCTCC 0.607000 31 19 1.37657e-19 9.91485e-19 0.000229342 1 0 SRRM1 10250 broad.mit.edu 37 1 24975472 24975472 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:24975472C>T uc001bjm.3 + 3 581 c.357C>T c.(355-357)atC>atT p.I119I SRRM1_uc010oel.2_Silent_p.I119I|SRRM1_uc009vrh.1_Silent_p.I80I|SRRM1_uc009vri.1_Silent_p.I36I|SRRM1_uc010oem.1_Non-coding_Transcript NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA. 119 Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|RNA binding|protein binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TCGCGGGAATCCCTTCTGCTT 0.403000 86 53 0 0 0.000781405 0 0 HMGCL 3155 broad.mit.edu 37 1 24143197 24143197 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:24143197G>A uc001bib.3 - 3 360 c.316C>T c.(316-318)Ctg>Ttg p.L106L HMGCL_uc010oec.2_Silent_p.L106L|HMGCL_uc001bic.3_Silent_p.L81L|HMGCL_uc009vqs.1_Silent_p.L106L|HMGCL_uc021oii.1_Silent_p.L45L NM_000191 NP_000182 P35914 HMGCL_HUMAN Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 106 acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) TTTGGGGTCAGGACTGGGTAG 0.502000 67 44 0 0 0.000781405 0 0 LGI3 203190 broad.mit.edu 37 8 22011507 22011507 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:22011507G>A uc003xav.3 - 4 757 c.468C>T c.(466-468)ttC>ttT p.F156F LGI3_uc010ltu.3_Silent_p.F132F NM_139278 NP_644807 Q8N145 LGI3_HUMAN Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA. 156 exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CCAGGGGCCGGAAGATGTCTC 0.577000 57 25 0 0 0.000878237 0 0 HMCN1 83872 broad.mit.edu 37 1 186062349 186062349 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:186062349C>T uc001grq.1 + 64 10200 c.9971C>T c.(9970-9972)cCc>cTc p.P3324L MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 3324 Ig-like C2-type 31. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GCTACTAATCCCGCTGGAGAA 0.393000 13 13 0 0 0.000151284 0 0 OR5F1 338674 broad.mit.edu 37 11 55761980 55761980 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:55761980C>T uc010riv.2 - 0 122 c.122G>A c.(121-123)gGa>gAa p.G41E NM_003697 NP_003688 O95221 OR5F1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) CCCGAGATTTCCCAGTACTGT 0.428000 12 9 0 0 0.000274275 0 0 D2HGDH 728294 broad.mit.edu 37 2 242707157 242707157 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:242707157G>A uc002wce.1 + 9 1512 c.1339G>A c.(1339-1341)Gag>Aag p.E447K D2HGDH_uc010fzq.1_Missense_Mutation_p.E313K|D2HGDH_uc002wcg.1_Non-coding_Transcript|D2HGDH_uc002wch.3_Non-coding_Transcript|D2HGDH_uc002wci.2_Missense_Mutation_p.E146K NM_152783 NP_689996 Q8N465 D2HDH_HUMAN Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA. 447 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TGTGACGGCGGAGGCCTTCAG 0.692000 35 12 0 0 0.000219431 0 0 RABGAP1 23637 broad.mit.edu 37 9 125852642 125852642 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr9:125852642C>T uc011lzh.2 + 20 2740 c.2606C>T c.(2605-2607)gCa>gTa p.A869V RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Missense_Mutation_p.A208V NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA. 869 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 AGCAAGATTGCACTACGGAAG 0.473000 4 19 0 0 0.000295444 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22196451 22196451 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:22196451C>T uc003svg.3 - 15 1467 c.1154G>A c.(1153-1155)gGa>gAa p.G385E RAPGEF5_uc011jyl.1_Missense_Mutation_p.G66E NM_012294 NP_036426 Q92565 RPGF5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA. 235 Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 AGTCACAGTTCCTCTATGCTG 0.458000 22 17 0 0 0.000229342 0 0 SNRNP27 11017 broad.mit.edu 37 2 70130361 70130361 + Nonsense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:70130361C>T uc002sfw.3 + 4 439 c.397C>T c.(397-399)Cag>Tag p.Q133* SNRNP27_uc002sfv.3_Non-coding_Transcript NM_006857 NP_006848 Q8WVK2 SNR27_HUMAN Homo sapiens small nuclear ribonucleoprotein 27kDa (U4/U6.U5) (SNRNP27), transcript variant 1, mRNA. 133 RNA splicing|mRNA processing nucleus nucleic acid binding p.Q133*(2) cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 AAATGTCTCTCAGAAGAGGAA 0.328000 87 33 0 0 0.00170553 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 72 31 6.84511e-11 4.86694e-10 0.00058488 1 0 TRMT61B 55006 broad.mit.edu 37 2 29092696 29092696 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:29092696G>A uc002rmm.3 - 0 480 c.448C>T c.(448-450)Ccc>Tcc p.P150S NM_017910 NP_060380 Q9BVS5 TR61B_HUMAN Homo sapiens tRNA methyltransferase 61 homolog B (S. cerevisiae) (TRMT61B), mRNA. 150 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 GCCTGAAAGGGTCTCTCTCTG 0.488000 18 18 0 0 0.00152264 0 0 UGT1A1 54658 broad.mit.edu 37 2 234591029 234591029 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:234591029C>T uc002vut.3 + 0 446 c.446C>T c.(445-447)cCt>cTt p.P149L UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.P149L NM_019077 NP_061950 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA. 152 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TTTCTCGATCCTTTTGATGCC 0.383000 44 68 0 0 0.000781405 0 0 MYH7B 57644 broad.mit.edu 37 20 33578836 33578836 + Nonsense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:33578836C>T uc002xbi.2 + 23 2538 c.2221C>T c.(2221-2223)Cag>Tag p.Q741* MIR499B_uc021wch.1_5'Flank NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 699 Myosin head-like. membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GGTGCTACACCAGCTGCGCTG 0.622000 37 16 0 0 0.000958276 0 0 SWT1 54823 broad.mit.edu 37 1 185143988 185143988 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:185143988C>T uc001grg.4 + 4 823 c.709C>T c.(709-711)Cct>Tct p.P237S SWT1_uc001grh.4_Missense_Mutation_p.P237S NM_001105518 NP_060143 Q5T5J6 SWT1_HUMAN Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA. 237 p.I236I(1) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 TTTCAAAATCCCTATAAAATC 0.353000 42 84 0 0 0.000781405 0 0 IL1B 3553 broad.mit.edu 37 2 113587996 113587996 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:113587996C>T uc002tii.1 - 6 839 c.752G>A c.(751-753)gGa>gAa p.G251E IL1B_uc002tih.1_Missense_Mutation_p.G220E NM_000576 NP_000567 P01584 IL1B_HUMAN Homo sapiens interleukin 1, beta (IL1B), mRNA. 251 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) TTTGGTCCCTCCCAGGAAGAC 0.478000 39 54 0 0 0.000781405 0 0 SVIL 6840 broad.mit.edu 37 10 29775148 29775148 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr10:29775148G>A uc001iut.1 - 25 5398 c.4645C>T c.(4645-4647)Cca>Tca p.P1549S LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.P463S|SVIL_uc001iuu.1_Missense_Mutation_p.P1123S|SVIL_uc009xlc.2_Missense_Mutation_p.P341S NM_021738 NP_068506 O95425 SVIL_HUMAN Homo sapiens supervillin (SVIL), transcript variant 2, mRNA. 1549 Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TCTTCTTTTGGGTCTCCAGCA 0.393000 8 28 0 0 0.00178596 0 0 GTPBP2 54676 broad.mit.edu 37 6 43590398 43590399 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:43590398_43590399CC>TT uc003ovs.3 - 9 1475_1476 c.1438_1439GG>AA c.(1438-1440)ggg>AAg p.G480K GTPBP2_uc010jyv.3_Missense_Mutation_p.G392K NM_019096 NP_061969 Q9BX10 GTPB2_HUMAN Homo sapiens GTP binding protein 2 (GTPBP2), mRNA. 480 GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) GTCAAAGTCCCCAAGCGCCAGT 0.594000 69 56 0 0 6.4e-05 0 0 ZNF135 7694 broad.mit.edu 37 19 58578659 58578659 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:58578659C>T uc002qrg.3 + 3 882 c.879C>T c.(877-879)ccC>ccT p.P293P ZNF135_uc002qre.3_Silent_p.P269P|ZNF135_uc002qrf.3_Silent_p.P227P|ZNF135_uc010yhq.2_Silent_p.P281P|ZNF135_uc010yhr.2_Silent_p.P90P|ZNF135_uc002qrd.2_Silent_p.P281P|ZNF135_uc021vcu.1_3'UTR NM_007134 NP_009065 B4DHH9 B4DHH9_HUMAN Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA. 281 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GGGAGAAACCCTATAAATGCA 0.493000 28 15 0 0 0.000308642 0 0 CCDC169-SOHLH2 100526761 broad.mit.edu 37 13 36748872 36748872 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr13:36748872G>A uc010tei.2 - 11 1322 c.1007C>T c.(1006-1008)gCc>gTc p.A336V CCDC169-SOHLH2_uc001uvj.3_Missense_Mutation_p.A259V NM_001198910 NP_001185839 B4DX90 B4DX90_HUMAN Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA. 336 regulation of transcription, DNA-dependent nucleus GGCCATAACGGCTGGAGAGAT 0.363000 33 36 0 0 0.00170553 0 0 ABHD4 63874 broad.mit.edu 37 14 23072902 23072902 + Silent SNP A C C TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:23072902A>C uc001wgm.3 + 3 627 c.558A>C c.(556-558)gcA>gcC p.A186A ABHD4_uc010tmz.1_3'UTR|ABHD4_uc010tna.1_Silent_p.A186A|ABHD4_uc010tnb.2_Intron NM_022060 NP_071343 Q8TB40 ABHD4_HUMAN Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA. 186 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) AGATCCGTGCACCCCCAGCCT 0.552000 28 16 0 0 0.000958276 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58563958 58563958 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:58563958G>A uc002qrc.1 + 4 813 c.566G>A c.(565-567)aGg>aAg p.R189K NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 189 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CTGCACACCAGGGCGGAGGCC 0.617000 29 20 0 0 0.00152264 0 0 PDE2A 5138 broad.mit.edu 37 11 72297142 72297142 + Missense_Mutation SNP T G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:72297142T>G uc010rrc.2 - 13 1400 c.1154A>C c.(1153-1155)aAg>aCg p.K385T PDE2A_uc001oso.3_Missense_Mutation_p.K364T|PDE2A_uc010rra.2_Missense_Mutation_p.K378T|PDE2A_uc001osn.3_Missense_Mutation_p.K129T|PDE2A_uc010rrb.2_Missense_Mutation_p.K376T|PDE2A_uc010rrd.2_Missense_Mutation_p.K270T NM_002599 NP_002590 O00408 PDE2A_HUMAN Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA. 385 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TTTCTGTTCCTTCTGGAAGGC 0.597000 OREG0021196 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 46 0 0 0.000781405 0 0 PLEC 5339 broad.mit.edu 37 8 144998070 144998070 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:144998070C>T uc003zaf.1 - 30 6608 c.6438G>A c.(6436-6438)gaG>gaA p.E2146E PLEC_uc003zab.1_Silent_p.E2009E|PLEC_uc003zac.1_Silent_p.E2013E|PLEC_uc003zad.2_Silent_p.E2009E|PLEC_uc003zae.1_Silent_p.E1977E|PLEC_uc003zag.1_Silent_p.E1987E|PLEC_uc003zah.2_Silent_p.E1995E|PLEC_uc003zaj.2_Silent_p.E2036E NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 2146 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle p.E2146D(4)|p.E2009D(2)|p.E2036D(2) NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCTCGACTTCCTCCAGCGCCG 0.756000 10 16 0 0 0.000229342 0 0 EVC2 132884 broad.mit.edu 37 4 5690978 5690978 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:5690978G>A uc003gij.3 - 4 666 c.612C>T c.(610-612)ctC>ctT p.L204L EVC2_uc003gik.3_Silent_p.L124L|EVC2_uc011bwb.2_5'UTR NM_147127 NP_667338 Q86UK5 LBN_HUMAN Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. 204 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TGTCCAGCAAGAGCAGCTCCG 0.527000 30 36 0 0 0.000491102 0 0 E2F7 144455 broad.mit.edu 37 12 77421669 77421669 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:77421669G>A uc001sym.4 - 10 2370 c.2134C>T c.(2134-2136)Cct>Tct p.P712S E2F7_uc009zse.3_Missense_Mutation_p.P199S NM_203394 NP_976328 Q96AV8 E2F7_HUMAN Homo sapiens E2F transcription factor 7 (E2F7), mRNA. 712 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 TTACCTGCAGGAGACTGCACA 0.413000 29 9 0 0 0.000978159 0 0 AK302879 0 broad.mit.edu 37 15 76071784 76071784 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:76071784C>T uc010umm.1 + 2 296 c.219C>T c.(217-219)atC>atT p.I73I DNM1P35_uc021sqp.1_Intron SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6; CCGCAATAATCAATCAACTCA 0.502000 6 8 0 0 0.000274275 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600331 41600331 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:41600331C>T uc002opt.3 + 6 1164 c.1155C>T c.(1153-1155)ctC>ctT p.L385L NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 385 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) ATTTCTTCCTCCCTAAGGTGC 0.552000 17 9 0 0 0.000274275 0 0 RNF10 9921 broad.mit.edu 37 12 121004729 121004729 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:121004729G>A uc001typ.4 + 12 2470 c.1987G>A c.(1987-1989)Ggc>Agc p.G663S RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.G574S NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN Homo sapiens ring finger protein 10 (RNF10), mRNA. 663 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGCACCGAGGGCCATGGGGC 0.498000 28 26 0 0 0.000720815 0 0 PEX11A 8800 broad.mit.edu 37 15 90226924 90226924 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:90226924G>A uc002boi.3 - 2 523 c.428C>T c.(427-429)tCc>tTc p.S143F PEX11A_uc010upy.2_Non-coding_Transcript NM_003847 NP_003838 O75192 PX11A_HUMAN Homo sapiens peroxisomal biogenesis factor 11 alpha (PEX11A), mRNA. 143 cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane endometrium(2)|large_intestine(2)|lung(3) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) CATCTGCAGGGAGATTTCATA 0.493000 91 37 0 0 0.00058488 0 0 PTPN2 5771 broad.mit.edu 37 18 12802114 12802114 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr18:12802114G>A uc002krp.3 - 7 1089 c.895C>T c.(895-897)Cct>Tct p.P299S PTPN2_uc002krn.3_Missense_Mutation_p.P322S|PTPN2_uc002krl.3_Missense_Mutation_p.P299S|PTPN2_uc002krm.3_Missense_Mutation_p.P299S NM_002828 NP_002819 P17706 PTN2_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA. 299 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3) 13 Lung NSC(161;8.94e-06) TCAAAGGCAGGAGATAAGTCT 0.328000 29 22 0 0 0.000586117 0 0 BACE2 25825 broad.mit.edu 37 21 42613747 42613747 + Splice_Site SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr21:42613747C>T uc002yyw.3 + 4 1082 c.619_splice c.e4-1 p.P207_splice BACE2_uc002yyx.3_Splice_Site_p.P207_splice|BACE2_uc002yyy.3_Splice_Site_p.P207_splice NM_012105 NP_036237 Q9Y5Z0 BACE2_HUMAN Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA. 207 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) CTCCCGCAGCCATCAAGTTCT 0.577000 34 49 0 0 0.000781405 0 0 MUC2 4583 broad.mit.edu 37 11 1097747 1097747 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:1097747C>T uc001lsx.1 + 37 6855 c.6828C>T c.(6826-6828)tcC>tcT p.S2276S NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 4642 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGATCGTCTCCAACTGTGAGG 0.642000 13 15 0 0 0.000308642 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948321 119948321 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:119948321G>A uc010inb.3 + 2 993 c.797G>A c.(796-798)aGa>aAa p.R266K SYNPO2_uc010ina.3_Missense_Mutation_p.R266K|SYNPO2_uc003icm.4_Missense_Mutation_p.R266K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.R194K NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 266 SSGR -> IRHE (in Ref. 5; CAB51856). Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TCCAGTGGCAGAGAGTTGAGA 0.512000 14 6 0 0 0.000157383 0 0 HECW2 57520 broad.mit.edu 37 2 197086952 197086952 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:197086952C>T uc002utm.1 - 23 4312 c.4129G>A c.(4129-4131)Gaa>Aaa p.E1377K HECW2_uc002utl.1_Missense_Mutation_p.E1021K NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 1377 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AATACTTCTTCGTTCACAGTG 0.453000 25 12 0 0 0.000308642 0 0 COL15A1 1306 broad.mit.edu 37 9 101748303 101748303 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr9:101748303C>T uc004azb.1 + 2 763 c.557C>T c.(556-558)cCc>cTc p.P186L NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 186 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) AGCCGCATCCCCTTCCAGCGG 0.572000 8 41 0 0 0.00128727 0 0 FUBP1 8880 broad.mit.edu 37 1 78430359 78430359 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:78430359G>A uc001dii.3 - 9 898 c.809C>T c.(808-810)tCa>tTa p.S270L FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Missense_Mutation_p.S291L NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA. 270 transcription from RNA polymerase II promoter nucleus RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TCCTATTCTTGACCCATACTC 0.343000 """F, N""" oligodendroglioma 50 31 0 0 0.00058488 0 0 PI3 5266 broad.mit.edu 37 20 43804764 43804764 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:43804764C>T uc002xng.3 + 1 366 c.342C>T c.(340-342)ttC>ttT p.F114F NM_002638 NP_002629 P19957 ELAF_HUMAN Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA. 114 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) TGGCCTGTTTCGTTCCCCAGT 0.567000 13 28 0 0 0.000339439 0 0 LY6G6C 80740 broad.mit.edu 37 6 31687075 31687076 + Missense_Mutation DNP AC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:31687075_31687076AC>TT uc003nwh.3 - 2 230_231 c.175_176GT>AA c.(175-177)gtt>AAt p.V59N LY6G6C_uc010jtd.3_Non-coding_Transcript NM_025261 NP_079537 O95867 LY66C_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA. 59 UPAR/Ly6. anchored to membrane|plasma membrane NS(1)|large_intestine(1)|lung(1)|skin(1) 4 ATTGGAGAAAACCCACATCTTA 0.589000 79 78 0 0 6.4e-05 0 0 XIRP2 129446 broad.mit.edu 37 2 168105217 168105217 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:168105217G>A uc002udx.3 + 8 7404 c.7315G>A c.(7315-7317)Gat>Aat p.D2439N XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2264N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2217N|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2264 actin cytoskeleton organization cell junction actin binding p.D2439N(2) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAATAAGAACGATTTTTCCCC 0.408000 14 31 0 0 0.000509022 0 0 MCF2L2 23101 broad.mit.edu 37 3 183014915 183014915 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:183014915G>A uc003fli.1 - 11 1436 c.1346C>T c.(1345-1347)tCc>tTc p.S449F MCF2L2_uc003flj.1_Missense_Mutation_p.S449F|MCF2L2_uc011bqr.1_Intron|BC013229_uc003fln.1_Non-coding_Transcript|BC040935_uc003flo.3_5'Flank NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA. 449 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TACAGCTTGGGAAGCCAAGAG 0.532000 26 23 0 0 0.00106085 0 0 GON4L 54856 broad.mit.edu 37 1 155732094 155732094 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:155732094G>A uc001flz.2 - 22 4895 c.4798C>T c.(4798-4800)Cgg>Tgg p.R1600W GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.R1600W|GON4L_uc009wrh.1_Missense_Mutation_p.R1600W|GON4L_uc001fma.1_Missense_Mutation_p.R1600W|GON4L_uc001fmb.4_Missense_Mutation_p.R796W NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA. 1600 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TTGCTGGCCCGAGCCCGACTT 0.542000 11 19 0 0 0.00121646 0 0 LIPI 149998 broad.mit.edu 37 21 15538740 15538740 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr21:15538740C>T uc002yjm.3 - 4 749 c.739G>A c.(739-741)Gat>Aat p.D247N LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Intron|LIPI_uc021whh.1_Missense_Mutation_p.D226N|LIPI_uc021whi.1_Missense_Mutation_p.D61N|LIPI_uc021whj.1_Missense_Mutation_p.D226N|LIPI_uc021whe.1_Missense_Mutation_p.D226N|LIPI_uc021whf.1_Missense_Mutation_p.D226N NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN Homo sapiens lipase, member I (LIPI), mRNA. 226 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) GGATAAAAATCTATATGTCCC 0.343000 50 14 0 0 0.000219431 0 0 MCF2 4168 broad.mit.edu 37 X 138680593 138680593 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrX:138680593C>T uc011mwn.1 - 19 2342 c.2336G>A c.(2335-2337)cGa>cAa p.R779Q MCF2_uc004fav.3_Missense_Mutation_p.R650Q|MCF2_uc004fau.3_Missense_Mutation_p.R634Q|MCF2_uc010nsh.2_Missense_Mutation_p.R634Q|MCF2_uc011mwm.2_Missense_Mutation_p.R595Q|MCF2_uc011mwl.2_Missense_Mutation_p.R611Q|MCF2_uc011mwo.1_Missense_Mutation_p.R710Q|MCF2_uc004faw.2_Missense_Mutation_p.R694Q|Mir_548_uc022cfd.1_5'Flank NM_001171878 NP_001165349 P10911 MCF2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA. 634 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction Rho guanyl-nucleotide exchange factor activity|protein binding NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTTAGTGATTCGTTGCACTGG 0.279000 3 11 0 0 0.000422831 0 0 GTF3C3 9330 broad.mit.edu 37 2 197654673 197654673 + Missense_Mutation SNP T A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:197654673T>A uc002uts.3 - 4 814 c.657A>T c.(655-657)gaA>gaT p.E219D GTF3C3_uc010zgu.2_Missense_Mutation_p.E219D|GTF3C3_uc002utu.3_Missense_Mutation_p.E219D NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA. 219 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 GTCTAACCCATTCTTCTGTGT 0.348000 49 21 0 0 0.000586117 0 0 GPR162 27239 broad.mit.edu 37 12 6948168 6948169 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:6948168_6948169GG>AA uc001qra.1 + 14 1941_1942 c.1907_1908GG>AA c.(1906-1908)cgg>cAA p.R636Q GPR162_uc001qrb.1_Missense_Mutation_p.R444Q|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank|GNB3_uc009zfe.3_5'Flank NM_014262 NP_055077 Q16538 GP162_HUMAN Homo sapiens leprecan-like 2 (LEPREL2), mRNA. 0 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 CTCCAGGCTCGGGTGCGTCCTC 0.658000 19 12 0 0 6.4e-05 0 0 IRAK3 11213 broad.mit.edu 37 12 66641485 66641485 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:66641485C>T uc001sth.3 + 11 1427 c.1325C>T c.(1324-1326)aCt>aTt p.T442I IRAK3_uc010ssy.2_Missense_Mutation_p.T381I NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA. 442 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) GTTTTAAATACTCTTGAAAGT 0.338000 30 12 0 0 0.000151284 0 0 CASP14 23581 broad.mit.edu 37 19 15164383 15164383 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:15164383G>A uc010dzv.2 + 2 330 c.118G>A c.(118-120)Gaa>Aaa p.E40K NM_012114 NP_036246 P31944 CASPE_HUMAN Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA. 40 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity p.E40K(2) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 GGATGCTCTGGAACACATGTT 0.542000 33 18 0 0 0.000229342 0 0 KIAA1377 57562 broad.mit.edu 37 11 101849153 101849153 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:101849153C>T uc001pgm.3 + 6 3191 c.2921C>T c.(2920-2922)cCt>cTt p.P974L KIAA1377_uc001pgn.3_Missense_Mutation_p.P930L|KIAA1377_uc010run.2_Missense_Mutation_p.P775L NM_020802 NP_065853 Q9P2H0 K1377_HUMAN Homo sapiens KIAA1377 (KIAA1377), mRNA. 974 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AGACAAAACCCTGGATCTGTA 0.333000 62 46 0 0 0.000781405 0 0 CD19 930 broad.mit.edu 37 16 28948595 28948595 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:28948595C>T uc010byo.2 + 8 1264 c.1202C>T c.(1201-1203)cCa>cTa p.P401L NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.P401L NM_001178098 NP_001171569 P15391 CD19_HUMAN Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA. 401 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity p.P401T(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 CCCCCAGGCCCAGAAGAAGAG 0.622000 7 16 0 0 0.000566183 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011256 105011256 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrX:105011256G>A uc004elz.1 + 10 2419 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA. 555 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTTAGTATATGAAATGCCCAT 0.423000 5 32 0 0 0.00178596 0 0 HMOX2 3163 broad.mit.edu 37 16 4556932 4556932 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:4556932C>T uc002cwr.4 + 3 430 c.123C>T c.(121-123)acC>acT p.T41T HMOX2_uc010bts.3_Silent_p.T41T|HMOX2_uc002cwq.4_Silent_p.T41T|HMOX2_uc010btt.3_Silent_p.T41T|HMOX2_uc002cwt.3_Silent_p.T41T NM_001127204 NP_002125 P30519 HMOX2_HUMAN Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 1, mRNA. 41 cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport endoplasmic reticulum membrane|microsome|plasma membrane electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) AGGAAGGGACCAAGGAAGCAC 0.512000 OREG0023582 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 75 0 0 0.000781405 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52131193 52131193 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:52131193C>T uc002pxe.3 - 4 1030 c.891G>A c.(889-891)ggG>ggA p.G297G NM_003830 NP_003821 O15389 SIGL5_HUMAN Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA. 297 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) GCTCCAAGATCCCGGTATTGG 0.602000 41 30 0 0 0.000692331 0 0 ADD2 119 broad.mit.edu 37 2 70933406 70933406 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:70933406G>A uc021vjc.1 - 2 400 c.135C>T c.(133-135)ttC>ttT p.F45F ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.F45F|ADD2_uc002sgz.3_Silent_p.F45F|ADD2_uc010fdt.2_Silent_p.F45F|ADD2_uc002shc.2_Silent_p.F45F|ADD2_uc010fdu.2_Silent_p.F61F NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 45 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CCATCAGGTTGAAGTCCTGCC 0.677000 16 37 0 0 0.00148497 0 0 UTP6 55813 broad.mit.edu 37 17 30202391 30202391 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:30202391C>T uc002hgr.3 - 13 1250 c.1167G>A c.(1165-1167)ctG>ctA p.L389L UTP6_uc002hgq.3_Silent_p.L205L NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA. 389 rRNA processing nucleolus binding p.A388G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) CTGCCACTTCCAGAGCTTCCC 0.443000 36 27 0 0 0.000491102 0 0 ATF7IP 55729 broad.mit.edu 37 12 14578044 14578044 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:14578044G>A uc001rbw.3 + 1 1353 c.1195G>A c.(1195-1197)Gaa>Aaa p.E399K ATF7IP_uc010shs.1_Missense_Mutation_p.E399K|ATF7IP_uc001rbu.3_Missense_Mutation_p.E399K|ATF7IP_uc001rbv.1_Missense_Mutation_p.E399K|ATF7IP_uc001rbx.3_Missense_Mutation_p.E399K|ATF7IP_uc010sht.1_Missense_Mutation_p.E399K|ATF7IP_uc001rby.4_Missense_Mutation_p.E399K|ATF7IP_uc001rbz.1_Missense_Mutation_p.E399K|ATF7IP_uc001rca.3_Missense_Mutation_p.E399K|ATF7IP_uc001rcb.3_Missense_Mutation_p.E10K NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA. 399 Glu-rich. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TGAAAAGAATGAAGATGAAAC 0.333000 36 32 0 0 0.00178596 0 0 CACNG4 27092 broad.mit.edu 37 17 65026607 65026607 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:65026607C>T uc002jft.2 + 3 519 c.471C>T c.(469-471)atC>atT p.I157I NM_014405 NP_055220 Q9UBN1 CCG4_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA. 157 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) TCGGTATCATCGTCTACATTT 0.552000 74 41 0 0 0.000781405 0 0 SCN11A 11280 broad.mit.edu 37 3 38936362 38936362 + Nonsense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:38936362G>A uc021wvy.1 - 14 2696 c.2497C>T c.(2497-2499)Cag>Tag p.Q833* SCN11A_uc010hhn.1_5'UTR NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 833 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.Q833K(2) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AGTGCTAACTGGACTTTAGTT 0.453000 32 17 0 0 0.000422831 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43653764 43653764 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:43653764C>T uc001zrk.1 - 4 2213 c.2066G>A c.(2065-2067)cGg>cAg p.R689Q ZSCAN29_uc001zrj.1_Missense_Mutation_p.R569Q|ZSCAN29_uc010bdg.1_Missense_Mutation_p.R299Q|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA. 689 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 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;8.97e-07) TCGTGCACTCCGACTGAAGCT 0.433000 21 18 0 0 0.000566183 0 0 DPY19L2P3 442524 broad.mit.edu 37 7 29727054 29727054 + RNA SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:29727054C>T uc003tag.3 + 1 c.872C>T DPY19L2P3_uc003tai.3_Intron|LOC646762_uc003tad.4_5'Flank Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 2, non-coding RNA. TGTAAACATTCATAAACATTT 0.294000 48 45 0 0 0.000781405 0 0 ANKRD6 22881 broad.mit.edu 37 6 90305674 90305674 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:90305674C>T uc003pni.4 + 2 501 c.160C>T c.(160-162)Cat>Tat p.H54Y ANKRD6_uc003pne.4_Missense_Mutation_p.H54Y|ANKRD6_uc003pnf.4_Missense_Mutation_p.H54Y|ANKRD6_uc011dzy.2_Missense_Mutation_p.H54Y|ANKRD6_uc010kcd.3_Missense_Mutation_p.H54Y|LYRM2_uc010kce.2_Intron NM_001242809 NP_001229738 Q9Y2G4 ANKR6_HUMAN Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA. 54 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) CAATAAGGGCCATCTTCCTGT 0.512000 13 10 0 0 0.00136819 0 0 KCNB1 3745 broad.mit.edu 37 20 47990378 47990378 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:47990378G>A uc002xur.1 - 1 1885 c.1719C>T c.(1717-1719)ccC>ccT p.P573P KCNB1_uc002xus.1_Silent_p.P573P NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 573 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTGTGCGAGTGGGCAGAGGGG 0.512000 61 24 0 0 0.000586117 0 0 PNMA1 9240 broad.mit.edu 37 14 74180022 74180022 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:74180022G>A uc001xor.1 - 0 1107 c.321C>T c.(319-321)ctC>ctT p.L107L NM_006029 NP_006020 Q8ND90 PNMA1_HUMAN Homo sapiens paraneoplastic antigen MA1 (PNMA1), mRNA. 107 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2) 13 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) tagctaggaagaggtgcaatc 0.557000 42 28 0 0 0.000720815 0 0 ACADS 35 broad.mit.edu 37 12 121175679 121175680 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:121175679_121175680GG>AA uc001tza.4 + 4 630_631 c.512_513GG>AA c.(511-513)cgg>cAA p.R171Q ACADS_uc010szl.1_Intron NM_000017 NP_000008 P16219 ACADS_HUMAN Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA. 171 R -> W (69% of wild-type activity; confers susceptibility to ethylmalonicaciduria; dbSNP:rs1800556). mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) ACCACCGCCCGGGCCGAGGGCG 0.658000 90 50 0 0 6.4e-05 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19316153 19316153 + Splice_Site SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:19316153C>T uc011kyn.2 - 5 1699 c.635_splice c.e5-1 p.G212_splice CSGALNACT1_uc011kyo.2_Splice_Site_p.G212_splice|CSGALNACT1_uc003wzg.3_Splice_Site|CSGALNACT1_uc011kyp.2_Splice_Site_p.G212_splice|CSGALNACT1_uc003wzh.2_Splice_Site NM_001130518 NP_060841 Q8TDX6 CGAT1_HUMAN Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA. 212 UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity p.G212V(1) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) TCGGTAGATCCCTGTTAAGAG 0.403000 61 69 0 0 0.000781405 0 0 BCL2L11 10018 broad.mit.edu 37 2 111881335 111881336 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:111881335_111881336CC>TT uc002tgv.1 + 1 301_302 c.13_14CC>TT c.(13-15)cct>TTt p.P5F BCL2L11_uc002tgt.1_Missense_Mutation_p.P5F|BCL2L11_uc021vmo.1_Missense_Mutation_p.P5F|BCL2L11_uc002tgu.1_Missense_Mutation_p.P5F|BCL2L11_uc002tgy.2_Missense_Mutation_p.P5F|BCL2L11_uc002thb.2_Missense_Mutation_p.P5F|BCL2L11_uc002tgx.2_Missense_Mutation_p.P5F|BCL2L11_uc021vmp.1_Missense_Mutation_p.P5F|BCL2L11_uc010fkd.2_Missense_Mutation_p.P5F|BCL2L11_uc002tgz.2_Missense_Mutation_p.P5F|BCL2L11_uc002thd.2_Missense_Mutation_p.P5F|BCL2L11_uc002tha.2_Missense_Mutation_p.P5F|BCL2L11_uc010fke.2_Missense_Mutation_p.P5F|BCL2L11_uc021vmq.1_Missense_Mutation_p.P5F|BCL2L11_uc002thc.2_Missense_Mutation_p.P5F|BCL2L11_uc021vmr.1_Missense_Mutation_p.P5F|BCL2L11_uc002tgw.2_Missense_Mutation_p.P5F|BCL2L11_uc021vms.1_Missense_Mutation_p.P5F NM_138621 NP_619527 O43521 B2L11_HUMAN Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA. 5 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 GGCAAAGCAACCTTCTGATGTA 0.421000 32 31 0 0 6.4e-05 0 0 XKR7 343702 broad.mit.edu 37 20 30584444 30584444 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:30584444C>T uc002wxe.3 + 2 1098 c.924C>T c.(922-924)ttC>ttT p.F308F NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA. 308 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGCACCTGTTCAGCATTGCCG 0.642000 19 24 0 0 0.000878237 0 0 STIM2 57620 broad.mit.edu 37 4 27010621 27010621 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:27010621C>T uc003gsg.4 + 9 2014 c.1486C>T c.(1486-1488)Ccc>Tcc p.P496S STIM2_uc003gsh.4_Missense_Mutation_p.P504S|STIM2_uc010iex.3_Missense_Mutation_p.P496S|STIM2_uc010iey.3_Missense_Mutation_p.P207S NM_020860 NP_065911 Q9P246 STIM2_HUMAN Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA. 496 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) GTCACAATTTCCCGGTAAGTG 0.418000 19 12 0 0 0.000151284 0 0 MXRA5 25878 broad.mit.edu 37 X 3235265 3235265 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrX:3235265G>A uc004crg.4 - 5 6614 c.6457C>T c.(6457-6459)Ccg>Tcg p.P2153S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2153 Ig-like C2-type 6. extracellular region p.P2153Q(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTCCTCCGCGGGGAGGTGCCC 0.697000 0 7 0 0 8.12818e-05 0 0 MTCH1 23787 broad.mit.edu 37 6 36937767 36937767 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:36937767G>A uc003one.4 - 10 1146 c.1146C>T c.(1144-1146)atC>atT p.I382I MTCH1_uc003onc.1_Intron|MTCH1_uc010jwo.1_Intron|MTCH1_uc003ond.1_Intron|MTCH1_uc011dtt.2_Silent_p.I197I NM_014341 NP_055156 Q9NZJ7 MTCH1_HUMAN Homo sapiens mitochondrial carrier 1 (MTCH1), nuclear gene encoding mitochondrial protein, mRNA. 0 activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 TCAGCTGAAGGATGTAGCAAA 0.453000 13 4 0 0 0.00024832 0 0 GPR98 84059 broad.mit.edu 37 5 89938839 89938839 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:89938839G>A uc003kju.3 + 12 2630 c.2534G>A c.(2533-2535)aGa>aAa p.R845K GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 845 Calx-beta 6. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGCTAGCAAGATTGGATGGG 0.343000 35 20 0 0 0.000229342 0 0 MUC5B 727897 broad.mit.edu 37 11 1273722 1273722 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:1273722C>T uc001lta.3 + 31 15072 c.15013C>T c.(15013-15015)Cct>Tct p.P5005S NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 5005 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCCCTGCCCCTGGCTGTGA 0.692000 15 4 0 0 0.00024832 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12942930 12942930 + Missense_Mutation SNP G A A rs76269416 TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:12942930G>A uc001aun.2 - 1 357 c.286C>T c.(286-288)Cgt>Tgt p.R96C NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 96 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACCTGGGACGAACCCCTAGG 0.622000 32 10 0 0 0.000673444 0 0 ORC3 23595 broad.mit.edu 37 6 88318858 88318858 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:88318858C>T uc003pmg.3 + 6 726 c.624C>T c.(622-624)agC>agT p.S208S ORC3_uc011dzl.2_Silent_p.S208S|ORC3_uc011dzm.2_Silent_p.S208S|ORC3_uc011dzn.2_Non-coding_Transcript|ORC3_uc003pmh.3_Silent_p.S208S|ORC3_uc011dzp.2_Silent_p.S65S|ORC3_uc011dzo.2_Silent_p.S65S NM_181837 NP_862820 Q9UBD5 ORC3_HUMAN Homo sapiens origin recognition complex, subunit 3 (ORC3), transcript variant 1, mRNA. 208 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 28 CTACTTCTAGCCAATGGCAGT 0.393000 43 37 0 0 0.000953801 0 0 GPR158 57512 broad.mit.edu 37 10 25701363 25701363 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr10:25701363C>T uc001isj.3 + 3 1356 c.1296C>T c.(1294-1296)ttC>ttT p.F432F NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 432 integral to membrane|plasma membrane G-protein coupled receptor activity p.F432F(2) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGCTCGACTTCGTTAGCATGC 0.478000 13 29 0 0 0.00111076 0 0 FLG2 388698 broad.mit.edu 37 1 152327317 152327317 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:152327317C>T uc001ezw.4 - 2 3018 c.2945G>A c.(2944-2946)gGa>gAa p.G982E AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 982 Ser-rich. calcium ion binding|structural molecule activity p.S981*(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGAGGATTTTCCTGAGCCTGA 0.498000 76 128 0 0 0.000781405 0 0 CLPS 1208 broad.mit.edu 37 6 35765063 35765063 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:35765063C>T uc003ole.2 - 0 59 c.3G>A c.(1-3)atG>atA p.M1I CLPS_uc021yyz.1_5'UTR|CLPS_uc003olf.2_Missense_Mutation_p.M1I NM_001832 NP_001823 P04118 COL_HUMAN Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA. 1 lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region large_intestine(2)|lung(2)|prostate(1) 5 GGATCTTCTCCATGGTGAGTG 0.602000 68 29 0 0 0.00127121 0 0 OR8D2 283160 broad.mit.edu 37 11 124189434 124189434 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:124189434G>A uc010sah.2 - 0 660 c.660C>T c.(658-660)ttC>ttT p.F220F NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TAGAGAAAATGAAAGCATAAG 0.448000 8 9 0 0 0.000274275 0 0 AOAH 313 broad.mit.edu 37 7 36552758 36552758 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:36552758C>T uc022abu.1 - 22 2346 c.1945G>A c.(1945-1947)Gga>Aga p.G649R AOAH_uc003tfh.4_3'UTR|AOAH_uc011kba.2_3'UTR NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 0 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 AAGAAGAGTCCTTTGGGCCTG 0.542000 26 16 0 0 0.000308642 0 0 PI3 5266 broad.mit.edu 37 20 43804541 43804541 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:43804541C>T uc002xng.3 + 1 143 c.119C>T c.(118-120)cCa>cTa p.P40L NM_002638 NP_002629 P19957 ELAF_HUMAN Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA. 40 2 X tandem repeats of SVP-1 like motif. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) GGCCGTGTTCCATTCAATGGA 0.448000 59 26 0 0 0.000491102 0 0 KIAA0430 9665 broad.mit.edu 37 16 15715603 15715603 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:15715603G>A uc002ddr.3 - 11 2833 c.2626C>T c.(2626-2628)Ctc>Ttc p.L876F KIAA0430_uc002ddq.3_Missense_Mutation_p.L710F|KIAA0430_uc010uzv.2_Missense_Mutation_p.L873F|KIAA0430_uc010uzw.2_Missense_Mutation_p.L876F NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA. 875 peroxisome RNA binding|nucleotide binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 AGTAAAGAGAGTGATTTGCTG 0.393000 25 25 0 0 0.000339439 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140174643 140174643 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:140174643C>T uc003lhd.2 + 0 200 c.94C>T c.(94-96)Cgc>Tgc p.R32C PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.R32C|PCDHAC2_uc011czy.2_Missense_Mutation_p.R32C NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 45 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCCAGCTCCGCTACTCCGT 0.682000 24 12 0 0 0.000978159 0 0 APOL3 80833 broad.mit.edu 37 22 36538042 36538042 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:36538042C>T uc003aot.3 - 2 453 c.415G>A c.(415-417)Gaa>Aaa p.E139K APOL3_uc003aoq.3_Missense_Mutation_p.E68K|APOL3_uc003aor.3_Missense_Mutation_p.E68K|APOL3_uc003aos.3_Missense_Mutation_p.E68K|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR|APOL3_uc021wol.1_5'Flank NM_145640 NP_663617 O95236 APOL3_HUMAN Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA. 139 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 TGCACATATTCGTCCTCAATA 0.438000 22 43 0 0 0.000680045 0 0 CCDC63 160762 broad.mit.edu 37 12 111336817 111336817 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:111336817G>A uc001trv.1 + 9 1425 c.1230G>A c.(1228-1230)ttG>ttA p.L410L CCDC63_uc010sye.1_Silent_p.L370L|CCDC63_uc001trw.1_Silent_p.L325L NM_152591 NP_689804 Q8NA47 CCD63_HUMAN Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA. 410 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TGGATCTATTGAAGAACTCAG 0.498000 18 11 0 0 0.000673444 0 0 TSPAN8 7103 broad.mit.edu 37 12 71533616 71533616 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:71533616C>T uc009zrt.1 - 2 298 c.136G>A c.(136-138)Gaa>Aaa p.E46K TSPAN8_uc001swk.1_Missense_Mutation_p.E46K|TSPAN8_uc001swj.1_Missense_Mutation_p.E46K NM_004616 NP_004607 P19075 TSN8_HUMAN Homo sapiens tetraspanin 8 (TSPAN8), mRNA. 46 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) CCTACATCTTCAGAACCAAAA 0.393000 42 41 0 0 0.000374591 0 0 COBL 23242 broad.mit.edu 37 7 51111375 51111375 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:51111375C>T uc003tps.3 - 8 1467 c.1282G>A c.(1282-1284)Ggg>Agg p.G428R COBL_uc003tpr.4_Missense_Mutation_p.G371R|COBL_uc011kcl.2_Missense_Mutation_p.G371R|COBL_uc010kzc.3_Missense_Mutation_p.G371R|COBL_uc003tpp.4_Missense_Mutation_p.G157R|COBL_uc003tpq.4_Missense_Mutation_p.G312R NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 371 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTGCCAGACCCCAGGGGCAGG 0.622000 16 16 0 0 0.00074312 0 0 C8orf4 56892 broad.mit.edu 37 8 40011117 40011117 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:40011117C>T uc003xnq.2 + 0 131 c.66C>T c.(64-66)atC>atT p.I22I NM_020130 NP_064515 Q9NR00 CH004_HUMAN Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA. 22 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) GCCCATCCATCCATGGCTACC 0.517000 39 12 0 0 0.000151284 0 0 ZNF135 7694 broad.mit.edu 37 19 58573071 58573071 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:58573071G>A uc002qrg.3 + 1 196 c.193G>A c.(193-195)Gtg>Atg p.V65M ZNF135_uc021vct.1_Missense_Mutation_p.V65M|ZNF135_uc002qre.3_Missense_Mutation_p.V53M|ZNF135_uc002qrf.3_Missense_Mutation_p.V11M|ZNF135_uc010yhq.2_Missense_Mutation_p.V53M|ZNF135_uc010yhr.2_Intron|ZNF135_uc002qrd.2_Missense_Mutation_p.V65M|ZNF135_uc021vcu.1_Missense_Mutation_p.V65M NM_007134 NP_009065 B4DHH9 B4DHH9_HUMAN Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA. 53 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) TCTGGTCTCTGTGGGTAAGGC 0.512000 61 42 0 0 0.000781405 0 0 GABPB2 126626 broad.mit.edu 37 1 151076051 151076051 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:151076051C>T uc001ewr.2 + 5 967 c.636C>T c.(634-636)gcC>gcT p.A212A GABPB2_uc010pcp.1_Silent_p.A228A|GABPB2_uc001ewt.2_Intron NM_144618 NP_653219 Q8TAK5 GABP2_HUMAN Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA. 212 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) ACCCCCATGCCTCAACAGTAC 0.443000 33 51 0 0 0.000781405 0 0 MLL 4297 broad.mit.edu 37 11 118373601 118373601 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:118373601C>T uc001pta.3 + 26 7008 c.6985C>T c.(6985-6987)Cct>Tct p.P2329S MLL_uc001ptb.3_Missense_Mutation_p.P2332S NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 2329 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CCCTGGAATTCCTAAACTGGC 0.453000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 40 22 0 0 0.000720815 0 0 TBC1D19 55296 broad.mit.edu 37 4 26744181 26744181 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:26744181C>T uc003gsf.4 + 17 1549 c.1279C>T c.(1279-1281)Ccc>Tcc p.P427S TBC1D19_uc010iew.3_Missense_Mutation_p.P427S|TBC1D19_uc011bxu.2_Missense_Mutation_p.P362S NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA. 427 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) AACTTATCTTCCCCAACTCTT 0.333000 70 31 0 0 0.00058488 0 0 SGSM1 129049 broad.mit.edu 37 22 25301148 25301148 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:25301148G>A uc003abg.2 + 21 3134 c.2977G>A c.(2977-2979)Gat>Aat p.D993N SGSM1_uc010guu.1_Missense_Mutation_p.D938N|SGSM1_uc003abh.2_Missense_Mutation_p.D932N|SGSM1_uc003abj.2_Missense_Mutation_p.D877N|SGSM1_uc003abi.1_Missense_Mutation_p.D913N NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 993 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 GGTCATTCTGGATGATGGTGA 0.498000 94 36 0 0 0.00170553 0 0 SAMD7 344658 broad.mit.edu 37 3 169656259 169656259 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:169656259C>T uc003fgd.3 + 8 1573 c.1306C>T c.(1306-1308)Cct>Tct p.P436S SAMD7_uc003fge.3_Missense_Mutation_p.P436S|SAMD7_uc011bpo.2_Missense_Mutation_p.P337S NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 436 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TACAATAATTCCTAAAGGAAT 0.398000 16 6 0 0 0.00116845 0 0 FAT2 2196 broad.mit.edu 37 5 150908755 150908755 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:150908755C>T uc003lue.4 - 13 10023 c.10010G>A c.(10009-10011)gGt>gAt p.G3337D FAT2_uc003lud.4_Missense_Mutation_p.G30D NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 3337 Cadherin 30. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.V3336L(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATGACGTCACCCACAAGGGC 0.517000 28 19 0 0 0.00152264 0 0 EIF4G1 1981 broad.mit.edu 37 3 184035254 184035255 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:184035254_184035255CC>TT uc003fnp.3 + 4 564_565 c.293_294CC>TT c.(292-294)gcc>gTT p.A98V EIF4G1_uc003fno.2_Intron|EIF4G1_uc010hxw.2_Intron|EIF4G1_uc010hxx.3_Missense_Mutation_p.A105V|EIF4G1_uc003fnt.3_Intron|EIF4G1_uc010hxy.3_Missense_Mutation_p.A105V|EIF4G1_uc003fnq.3_Missense_Mutation_p.A11V|EIF4G1_uc003fnr.3_Intron|EIF4G1_uc003fns.3_Missense_Mutation_p.A58V|EIF4G1_uc010hxz.2_Missense_Mutation_p.A11V|EIF4G1_uc003fnv.4_Missense_Mutation_p.A98V|EIF4G1_uc003fnw.3_Missense_Mutation_p.A105V|EIF4G1_uc003fnx.3_5'Flank NM_198241 NP_937885 Q04637 IF4G1_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA. 98 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCTACCCAGCCTCCCAGGGGG 0.614000 29 29 0 0 6.4e-05 0 0 UBR2 23304 broad.mit.edu 37 6 42613219 42613219 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:42613219C>T uc011dur.2 + 20 2598 c.2300C>T c.(2299-2301)cCt>cTt p.P767L UBR2_uc011dus.2_Missense_Mutation_p.P412L|UBR2_uc003osh.3_Non-coding_Transcript NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA. 767 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) AGATTTAGTCCTGGAGTTGGA 0.343000 47 28 0 0 0.00127121 0 0 CCDC64 92558 broad.mit.edu 37 12 120499591 120499591 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:120499591C>T uc001txl.1 + 2 748 c.723C>T c.(721-723)acC>acT p.T241T CCDC64_uc001txk.2_Silent_p.T241T|CCDC64_uc009zwv.1_Non-coding_Transcript|CCDC64_uc010sze.1_5'Flank NM_207311 NP_997194 Q6ZP65 BICR1_HUMAN Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA. 241 Golgi to secretory granule transport|neuron projection development centrosome Rab GTPase binding|dynactin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACTCATCAACCAACCAGCACA 0.532000 16 7 0 0 8.12818e-05 0 0 PLEC 5339 broad.mit.edu 37 8 144998603 144998604 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:144998603_144998604CC>TT uc003zaf.1 - 30 6074_6075 c.5904_5905GG>AA c.(5902-5907)gcggag>gcAAag p.E1969K PLEC_uc003zab.1_Missense_Mutation_p.E1832K|PLEC_uc003zac.1_Missense_Mutation_p.E1836K|PLEC_uc003zad.2_Missense_Mutation_p.E1832K|PLEC_uc003zae.1_Missense_Mutation_p.E1800K|PLEC_uc003zag.1_Missense_Mutation_p.E1810K|PLEC_uc003zah.2_Missense_Mutation_p.E1818K|PLEC_uc003zaj.2_Missense_Mutation_p.E1859K NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 1969 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGCACCCGCTCCGCCTCGGCCC 0.743000 5 6 0 0 6.4e-05 0 0 RYBP 23429 broad.mit.edu 37 3 72495776 72495776 + Splice_Site SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:72495776C>A uc003dpe.3 - 1 1 c.1_splice c.e1-1 p.R1_splice NM_012234 NP_036366 Q8N488 RYBP_HUMAN Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA. 11 apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) TTTTGGCCTTCCGAGGAGTGG 0.542000 32 4 2.56e-06 1.81353e-05 0.00024832 1 0 GBF1 8729 broad.mit.edu 37 10 104128020 104128020 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr10:104128020G>A uc001kux.2 + 21 2979 c.2685G>A c.(2683-2685)cgG>cgA p.R895R GBF1_uc001kuy.2_Silent_p.R895R|GBF1_uc001kuz.2_Silent_p.R896R NM_004193 NP_004184 Q92538 GBF1_HUMAN Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA. 895 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 p.R895Q(1) 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) GCTTGGTTCGGGAGAACTATG 0.517000 12 35 0 0 0.000692331 0 0 TYK2 7297 broad.mit.edu 37 19 10479086 10479086 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:10479086G>A uc002moc.4 - 3 580 c.202C>T c.(202-204)Cct>Tct p.P68S TYK2_uc010dxe.3_Intron|TYK2_uc002mod.2_Missense_Mutation_p.P68S NM_003331 NP_003322 P29597 TYK2_HUMAN Homo sapiens tyrosine kinase 2 (TYK2), mRNA. 68 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) AAGCAAGGAGGAGTGATACCT 0.547000 36 15 0 0 0.000308642 0 0 CPNE9 151835 broad.mit.edu 37 3 9760195 9760195 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:9760195G>A uc021wst.1 + 16 1321 c.1150G>A c.(1150-1152)Gag>Aag p.E384K CPNE9_uc003bsd.3_Missense_Mutation_p.E383K NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN Homo sapiens copine family member IX (CPNE9), mRNA. 384 VWFA. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) TGCGGGCATCGAGGGTGTGCT 0.552000 23 29 0 0 0.001512 0 0 SLIT3 6586 broad.mit.edu 37 5 168233537 168233537 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:168233537G>A uc010jjg.3 - 8 1269 c.849C>T c.(847-849)ccC>ccT p.P283P SLIT3_uc003mab.3_Silent_p.P283P|SLIT3_uc010jji.2_Silent_p.P283P|SLIT3_uc003mac.1_Silent_p.P80P NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 283 LRRNT 2. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCACGTGCAGGGCGAAGGGC 0.567000 20 17 0 0 0.00121646 0 0 UBR5 51366 broad.mit.edu 37 8 103279190 103279190 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:103279190G>A uc003ykr.2 - 51 7862 c.7407C>T c.(7405-7407)tcC>tcT p.S2469S UBR5_uc003yks.2_Silent_p.S2469S|UBR5_uc003ykq.3_5'UTR NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 2469 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCTTTTCTGAGGAGTCTACTA 0.358000 157 62 0 0 0.000781405 0 0 EPHA10 284656 broad.mit.edu 37 1 38230662 38230662 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:38230662C>T uc009vvi.3 - 0 163 c.77G>A c.(76-78)gGa>gAa p.G26E EPHA10_uc001cbw.4_Missense_Mutation_p.G26E NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA. 26 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCGCCAGGGTCCCAAAAGCAG 0.652000 8 5 0 0 0.00116845 0 0 ASB5 140458 broad.mit.edu 37 4 177142371 177142371 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:177142371C>T uc003iuq.2 - 4 719 c.605G>A c.(604-606)gGa>gAa p.G202E ASB5_uc003iup.2_Missense_Mutation_p.G149E NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA. 202 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GAGAGGAGTTCCCAAATGAGG 0.403000 27 23 0 0 0.000375601 0 0 KRT19P2 160313 broad.mit.edu 37 12 95228369 95228369 + RNA SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:95228369C>T uc001tdk.2 + 0 c.196C>T Homo sapiens keratin 19 pseudogene 2 (KRT19P2), non-coding RNA. AGGCACAGATCAAAGGCCTGA 0.542000 8 11 0 0 0.000673444 0 0 HARS 3035 broad.mit.edu 37 5 140056385 140056385 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:140056385C>T uc003lgv.3 - 9 1130 c.1048G>A c.(1048-1050)Gag>Aag p.E350K HARS_uc003lgu.3_Missense_Mutation_p.E281K|HARS_uc011czm.2_Missense_Mutation_p.E310K|HARS_uc003lgw.3_Missense_Mutation_p.E330K|HARS_uc011czn.2_Missense_Mutation_p.E290K|HARS_uc011czo.2_Missense_Mutation_p.E276K|HARS_uc011czp.2_Missense_Mutation_p.E236K|HARS_uc011czq.2_Missense_Mutation_p.E240K NM_002109 NP_002100 P12081 SYHC_HUMAN Homo sapiens histidyl-tRNA synthetase (HARS), mRNA. 350 histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) CCCAGGGGCTCTTCCCCTGCC 0.607000 32 15 0 0 0.00074312 0 0 PTEN 5728 broad.mit.edu 37 10 89717741 89717741 + Nonsense_Mutation SNP G T T rs121909228 TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr10:89717741G>T uc001kfb.3 + 6 1798 c.766G>T c.(766-768)Gag>Tag p.E256* PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 256 C2 tensin-type. T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.E256K(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D252_K263>AKE(2)|p.E256*(2)|p.V255A(1)|p.V255G(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.K254fs*39(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TATCAAAGTAGAGTTCTTCCA 0.373000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 11 10 0.000978159 0.00682949 0.000978159 1 0 EPHA5 2044 broad.mit.edu 37 4 66467820 66467820 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:66467820G>A uc003hcy.3 - 2 642 c.449C>T c.(448-450)aCc>aTc p.T150I EPHA5_uc003hcx.3_Missense_Mutation_p.T81I|EPHA5_uc003hcz.3_Missense_Mutation_p.T150I|EPHA5_uc011cah.2_Missense_Mutation_p.T150I|EPHA5_uc011cai.2_Missense_Mutation_p.T150I|EPHA5_uc003hda.2_Missense_Mutation_p.T150I NM_004439 NP_004430 P54756 EPHA5_HUMAN Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA. 150 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CATATTAAAGGTTTCCTTACA 0.418000 TSP Lung(17;0.13) 18 14 0 0 0.000219431 0 0 MUC16 94025 broad.mit.edu 37 19 9077155 9077155 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:9077155C>T uc002mkp.3 - 2 10495 c.10291G>A c.(10291-10293)Gat>Aat p.D3431N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3432 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 GATGTCTGATCTGACCAAGAA 0.453000 33 27 0 0 0.001512 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519570 113519570 + Missense_Mutation SNP A C C TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:113519570A>C uc010ljy.1 - 3 1608 c.1577T>G c.(1576-1578)gTt>gGt p.V526G NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 526 glycogen metabolic process integral to membrane p.G525D(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTTTCATTAACACCTAAATA 0.353000 1 6 0 0 0.00116845 0 0 SPINK5 11005 broad.mit.edu 37 5 147475428 147475428 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:147475428G>A uc003lox.2 + 9 915 c.842G>A c.(841-843)gGa>gAa p.G281E SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Missense_Mutation_p.G253E|SPINK5_uc010jgr.2_Missense_Mutation_p.G262E|SPINK5_uc003low.2_Missense_Mutation_p.G281E|SPINK5_uc003loy.2_Missense_Mutation_p.G281E NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 281 Kazal-like 4. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity p.L280fs*15(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAAATTTGGGAAAAGCTGAA 0.363000 14 13 0 0 0.00074312 0 0 ASPA 443 broad.mit.edu 37 17 3397658 3397658 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:3397658C>T uc010ckg.3 + 5 740 c.649C>T c.(649-651)Ccc>Tcc p.P217S SPATA22_uc010vrg.2_Intron|ASPA_uc002fvq.3_Missense_Mutation_p.P217S NM_001128085 NP_001121557 P45381 ACY2_HUMAN Homo sapiens aspartoacylase (ASPA), transcript variant 2, mRNA. 217 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) AGAATTTCCTCCCTGCGCCAT 0.428000 125 87 0 0 0.000781405 0 0 VIL1 7429 broad.mit.edu 37 2 219289047 219289047 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:219289047C>T uc002vib.3 + 1 145 c.123C>T c.(121-123)ttC>ttT p.F41F VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Silent_p.F41F|VIL1_uc002vic.1_Silent_p.F41F NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 41 Core.|Necessary for homodimerization. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAAGCTTCTTCGATGGTGACT 0.592000 80 35 0 0 0.000509022 0 0 AHNAK 79026 broad.mit.edu 37 11 62288300 62288300 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:62288300C>T uc001ntl.3 - 4 13889 c.13589G>A c.(13588-13590)gGa>gAa p.G4530E AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 4530 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TATCTTAGGTCCTTTCAAATT 0.433000 26 31 0 0 0.000692331 0 0 CYP2B6 1555 broad.mit.edu 37 19 41518636 41518636 + Missense_Mutation SNP A G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:41518636A>G uc002opr.1 + 7 1217 c.1210A>G c.(1210-1212)Aaa>Gaa p.K404E CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.K204E NM_000767 NP_000758 P20813 CP2B6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA. 404 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CTACTTTGAAAAACCAGACGC 0.473000 46 34 0 0 0.00111076 0 0 CYYR1 116159 broad.mit.edu 37 21 27840879 27840879 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr21:27840879G>A uc002yme.3 - 3 731 c.409C>T c.(409-411)Cca>Tca p.P137S CYYR1_uc002ymd.3_Missense_Mutation_p.P136S|CYYR1_uc011ack.2_Non-coding_Transcript NM_052954 NP_443186 Q96J86 CYYR1_HUMAN Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA. 136 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GGACCCTGTGGGGTGGGGGAG 0.537000 17 16 0 0 0.000958276 0 0 KIF2B 84643 broad.mit.edu 37 17 51901099 51901099 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:51901099C>T uc002iua.2 + 0 861 c.705C>T c.(703-705)atC>atT p.I235I KIF2B_uc010wna.1_Intron NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 235 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ACCTGGATATCATCACCGTCC 0.552000 15 18 0 0 0.00074312 0 0 FAM155A 728215 broad.mit.edu 37 13 107822874 107822874 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr13:107822874G>A uc001vql.3 - 2 1864 c.1348C>T c.(1348-1350)Ctg>Ttg p.L450L NM_001080396 NP_001073865 B1AL88 F155A_HUMAN Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA. 450 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TTTTCTTCCAGCGTGTTGATG 0.517000 30 24 0 0 0.00127121 0 0 NETO1 81832 broad.mit.edu 37 18 70526090 70526090 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr18:70526090C>T uc002lkw.3 - 3 724 c.440G>A c.(439-441)gGa>gAa p.G147E NETO1_uc002lky.2_Missense_Mutation_p.G147E|NETO1_uc002lkz.3_Missense_Mutation_p.G146E NM_001201465 NP_001188394 Q8TDF5 NETO1_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA. 147 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AGCTGAAAATCCCATAGATTC 0.328000 22 17 0 0 0.000958276 0 0 IL1RL2 8808 broad.mit.edu 37 2 102805609 102805609 + Silent SNP C T T rs111747917 byFrequency TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:102805609C>T uc002tbs.3 + 2 258 c.132C>T c.(130-132)ttC>ttT p.F44F IL1RL2_uc002tbt.3_Intron NM_003854 NP_003845 Q9HB29 ILRL2_HUMAN Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA. 44 Ig-like C2-type 1. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 ATTGTACATTCCCTCCCATAA 0.368000 24 47 0 0 0.000781405 0 0 CNGB3 54714 broad.mit.edu 37 8 87588076 87588076 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:87588076C>T uc003ydx.3 - 17 2434 c.2386G>A c.(2386-2388)Gaa>Aaa p.E796K CNGB3_uc010maj.3_Missense_Mutation_p.E653K NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 796 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 AGAACCTCTTCTCCGCCCTCA 0.423000 27 29 0 0 0.000692331 0 0 POU6F2 11281 broad.mit.edu 37 7 39243858 39243858 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:39243858C>T uc003thb.2 + 3 358 c.215C>T c.(214-216)tCa>tTa p.S72L POU6F2_uc022acb.1_Missense_Mutation_p.S72L|POU6F2_uc010kxo.3_Missense_Mutation_p.S64L NM_007252 NP_009183 P78424 PO6F2_HUMAN Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. 72 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CCAGCATTATCAGACCCAGGC 0.493000 11 13 0 0 0.000219431 0 0 ABCA13 154664 broad.mit.edu 37 7 48269475 48269475 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:48269475C>T uc003toq.2 + 6 710 c.686C>T c.(685-687)tCc>tTc p.S229F ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 229 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAAACTTTTTCCCAGGTTTCT 0.408000 107 127 0 0 0.000781405 0 0 ATG9A 79065 broad.mit.edu 37 2 220088413 220088413 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:220088413G>A uc002vke.1 - 9 1679 c.1493C>T c.(1492-1494)gCc>gTc p.A498V ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.A498V NM_001077198 NP_076990 Q7Z3C6 ATG9A_HUMAN Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA. 498 autophagic vacuole assembly|protein transport Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AATCTCCAGGGCCCGTGGGCG 0.537000 21 24 0 0 0.00047179 0 0 HTT 3064 broad.mit.edu 37 4 3129048 3129048 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:3129048C>T uc021xkv.1 + 11 1605 c.1460C>T c.(1459-1461)cCa>cTa p.P487L NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 487 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GTTTCCACTCCAGGGTCAGCA 0.522000 13 9 0 0 0.000274275 0 0 DLEC1 9940 broad.mit.edu 37 3 38135151 38135151 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:38135151G>A uc003chp.1 + 11 1833 c.1812G>A c.(1810-1812)caG>caA p.Q604Q DLEC1_uc003cho.1_Silent_p.Q604Q|DLEC1_uc010hgv.1_Silent_p.Q604Q|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Non-coding_Transcript NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 604 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AAAAAAGCCAGCCAGACCCTG 0.473000 34 50 0 0 0.000781405 0 0 TBL3 10607 broad.mit.edu 37 16 2027165 2027165 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:2027165C>T uc002cnu.1 + 14 1653 c.1551C>T c.(1549-1551)ttC>ttT p.F517F TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.F403F|TBL3_uc010bsc.1_Silent_p.F384F|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank NM_006453 NP_006444 Q12788 TBL3_HUMAN Homo sapiens transducin (beta)-like 3 (TBL3), mRNA. 517 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 TGGGTGTCTTCTCAGGCCACC 0.662000 17 18 0 0 0.00074312 0 0 EFHC1 114327 broad.mit.edu 37 6 52344579 52344580 + Missense_Mutation DNP CA AC AC TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:52344579_52344580CA>AC uc003pap.4 + 8 1849_1850 c.1634_1635CA>AC c.(1633-1635)gca>gAC p.A545D EFHC1_uc011dwv.1_Missense_Mutation_p.A454D|EFHC1_uc011dww.2_Missense_Mutation_p.A526D NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. 545 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) GCTCCAGAAGCAGAAAGGTGTG 0.426000 21 13 0 0 6.4e-05 0 0 TLE6 79816 broad.mit.edu 37 19 2991913 2991913 + Silent SNP G T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:2991913G>T uc002lwt.2 + 13 1426 c.1317G>T c.(1315-1317)ccG>ccT p.P439P TLE6_uc002lwu.2_Silent_p.P316P NM_001143986 NP_079036 Q9H808 TLE6_HUMAN Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA. 316 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGGGGTCCGGATGCCTGTC 0.582000 26 4 0.00116845 0.00809969 0.00116845 1 0 ELSPBP1 64100 broad.mit.edu 37 19 48523108 48523108 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:48523108G>A uc002pht.3 + 4 666 c.488G>A c.(487-489)gGa>gAa p.G163E NM_022142 NP_071425 Q96BH3 ESPB1_HUMAN Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA. 163 Fibronectin type-II 3. single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) GATAAGGATGGAAAGTGGAGT 0.483000 11 10 0 0 0.000978159 0 0 NUP205 23165 broad.mit.edu 37 7 135292009 135292009 + Missense_Mutation SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:135292009C>A uc003vsw.3 + 21 3116 c.3085C>A c.(3085-3087)Cct>Act p.P1029T NM_015135 NP_055950 Q92621 NU205_HUMAN Homo sapiens nucleoporin 205kDa (NUP205), mRNA. 1029 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GTTAGGTTGCCCTCGGACATG 0.438000 41 5 0.000442599 0.0031014 0.000442599 1 0 CYLD 1540 broad.mit.edu 37 16 50813599 50813599 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:50813599C>T uc021tib.1 + 6 1285 c.1162C>T c.(1162-1164)Ctt>Ttt p.L388F CYLD_uc002ego.3_Missense_Mutation_p.L385F|CYLD_uc010cbs.1_Missense_Mutation_p.L385F|CYLD_uc002egp.1_Missense_Mutation_p.L385F|CYLD_uc002egq.1_Missense_Mutation_p.L385F|CYLD_uc002egr.1_Missense_Mutation_p.L385F|CYLD_uc002egs.1_Missense_Mutation_p.L385F NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA. 388 Interaction with TRIP. Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) TGCAAAATCTCTTACAGAGAT 0.373000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 34 15 0 0 0.000422831 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228681 57228681 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:57228681C>T uc010lyk.1 - 1 864 c.226G>A c.(226-228)Ggg>Agg p.G76R SDR16C5_uc003xsy.1_Missense_Mutation_p.G76R|SDR16C5_uc010lyl.1_Missense_Mutation_p.G76R NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA. 76 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity p.E75K(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 TCCTCATTCCCCTCCTTATTG 0.517000 68 34 0 0 0.000814825 0 0 FKBP9 11328 broad.mit.edu 37 7 33014933 33014933 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:33014933G>A uc011kal.2 + 3 847 c.666G>A c.(664-666)gtG>gtA p.V222V AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Silent_p.V169V|FKBP9_uc010kwm.3_Silent_p.V76V NM_007270 NP_009201 O95302 FKBP9_HUMAN Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA. 169 PPIase FKBP-type 2. protein folding endoplasmic reticulum|membrane FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) CTGATTTTGTGAGGTACCACT 0.473000 45 10 0 0 0.000978159 0 0 FAM5B 57795 broad.mit.edu 37 1 177226357 177226357 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:177226357G>A uc001glf.3 + 3 818 c.506G>A c.(505-507)aGa>aAa p.R169K FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Missense_Mutation_p.R64K NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 169 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 AAACTGGGAAGAAAGACAGAG 0.542000 55 16 0 0 0.000958276 0 0 AEBP1 165 broad.mit.edu 37 7 44152505 44152505 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:44152505G>A uc003tkb.3 + 17 2871 c.2566G>A c.(2566-2568)Ggg>Agg p.G856R AEBP1_uc003tkc.4_Missense_Mutation_p.G431R|AEBP1_uc003tkd.3_Missense_Mutation_p.G106R NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN Homo sapiens AE binding protein 1 (AEBP1), mRNA. 856 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 CCCCCGGACCGGGAGTGAGTC 0.662000 70 57 0 0 0.000781405 0 0 MUC5B 727897 broad.mit.edu 37 11 1269208 1269208 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:1269208G>A uc001lta.3 + 30 11157 c.11098G>A c.(11098-11100)Gcc>Acc p.A3700T NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3700 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GACCACAACAGCCACTACGAC 0.652000 54 66 0 0 0.000781405 0 0 GNAQ 2776 broad.mit.edu 37 9 80646121 80646121 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr9:80646121G>A uc004akw.3 - 0 99 c.31C>T c.(31-33)Ctg>Ttg p.L11L NM_002072 NP_002063 P50148 GNAQ_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA. 11 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 TCCTCGCTCAGGCAGCACGCC 0.682000 Mis uveal melanoma 8 15 0 0 0.000566183 0 0 UBTF 7343 broad.mit.edu 37 17 42284846 42284846 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:42284846C>T uc010czs.3 - 19 2441 c.2145G>A c.(2143-2145)gaG>gaA p.E715E UBTF_uc002igc.3_Silent_p.E678E|UBTF_uc002igd.3_Silent_p.E678E|UBTF_uc010czt.3_Silent_p.E715E NM_014233 NP_055048 P17480 UBF1_HUMAN Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA. 715 Asp/Glu/Ser-rich (acidic). positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) CGCTCTCGTCCTCGCTGCTGG 0.597000 11 9 0 0 0.000219431 0 0 WDR47 22911 broad.mit.edu 37 1 109553968 109553968 + Missense_Mutation SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:109553968C>A uc001dwl.3 - 4 1097 c.721G>T c.(721-723)Ggt>Tgt p.G241C WDR47_uc001dwi.3_Missense_Mutation_p.G234C|WDR47_uc001dwj.3_Missense_Mutation_p.G234C|WDR47_uc001dwk.2_Missense_Mutation_p.G206C|WDR47_uc010ovf.2_Missense_Mutation_p.G161C NM_001142550 NP_001136022 O94967 WDR47_HUMAN Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA. 234 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CAACCATTACCACATAAGAGG 0.388000 443 12 3.45872e-05 0.000243682 0.000422831 1 0 CDCA2 157313 broad.mit.edu 37 8 25340955 25340955 + Missense_Mutation SNP C T T rs144887977 TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:25340955C>T uc003xep.1 + 8 1550 c.1073C>T c.(1072-1074)cCg>cTg p.P358L DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.P358L|CDCA2_uc003xeq.1_Missense_Mutation_p.P343L|CDCA2_uc003xer.1_Missense_Mutation_p.P21L NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN Homo sapiens cell division cycle associated 2 (CDCA2), mRNA. 358 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) GGGACTCATCCGAGCTTAATC 0.318000 31 49 0 0 0.000781405 0 0 PSMD1 5707 broad.mit.edu 37 2 232018339 232018339 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:232018339C>T uc002vrn.2 + 18 2339 c.2177C>T c.(2176-2178)gCc>gTc p.A726V PSMD1_uc002vrm.2_Missense_Mutation_p.A726V|PSMD1_uc010fxu.2_Missense_Mutation_p.A590V NM_002807 NP_002798 Q99460 PSMD1_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA. 726 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding p.A726A(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) GATGTCATGGCCAAGTTTGGC 0.353000 61 33 0 0 0.000374591 0 0 SCN5A 6331 broad.mit.edu 37 3 38645454 38645454 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:38645454C>T uc021wvo.1 - 10 1691 c.1639G>A c.(1639-1641)Gaa>Aaa p.E547K SCN5A_uc021wvk.1_Missense_Mutation_p.E547K|SCN5A_uc021wvl.1_Missense_Mutation_p.E547K|SCN5A_uc021wvm.1_Missense_Mutation_p.E547K|SCN5A_uc021wvn.1_Missense_Mutation_p.E547K|SCN5A_uc021wvp.1_Missense_Mutation_p.E547K|SCN5A_uc021wvq.1_Missense_Mutation_p.E547K|SCN5A_uc021wvr.1_Missense_Mutation_p.E547K|SCN5A_uc021wvs.1_Missense_Mutation_p.E547K|SCN5A_uc021wvt.1_Missense_Mutation_p.E547K|SCN5A_uc021wvu.1_Missense_Mutation_p.E547K|SCN5A_uc021wvv.1_Missense_Mutation_p.E547K|SCN5A_uc021wvj.1_Missense_Mutation_p.E413K|SCN5A_uc021wvi.1_Missense_Mutation_p.E413K|SCN5A_uc021wvw.1_Missense_Mutation_p.E158K NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 547 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTGCTGTTTTCATCATCTGCA 0.612000 11 20 0 0 0.00152264 0 0 RTN1 6252 broad.mit.edu 37 14 60194363 60194363 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:60194363C>T uc001xen.1 - 2 1248 c.1039G>A c.(1039-1041)Ggg>Agg p.G347R RTN1_uc001xem.1_5'UTR NM_021136 NP_066959 Q16799 RTN1_HUMAN Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA. 347 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CTGCCTTTCCCCTGGGATTCT 0.572000 12 10 0 0 0.000151284 0 0 PPM1A 5494 broad.mit.edu 37 14 60756565 60756565 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:60756565C>T uc001xew.4 + 3 1309 c.1213C>T c.(1213-1215)Cat>Tat p.H405Y PPM1A_uc010apn.3_Missense_Mutation_p.H332Y|PPM1A_uc001xey.4_Missense_Mutation_p.H332Y NM_177952 NP_808821 P35813 PPM1A_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA. 332 Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) CGACTTAGTCCATGTGATGCG 0.428000 17 11 0 0 0.000308642 0 0 AK094577 0 broad.mit.edu 37 8 145722877 145722877 + Nonsense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:145722877C>T uc003zde.1 - 1 749 c.237G>A c.(235-237)tgG>tgA p.W79* PPP1R16A_uc003zdd.3_Intron|PPP1R16A_uc003zdf.3_Intron Homo sapiens cDNA FLJ37258 fis, clone BRAMY2010208. AGCAGACGGCCCACTCCCTGC 0.642000 10 12 0 0 0.000219431 0 0 SCARB1 949 broad.mit.edu 37 12 125298849 125298850 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:125298849_125298850CC>TT uc001ugp.3 - 3 781_782 c.528_529GG>AA c.(526-531)gtgggt>gtAAgt p.G177S SCARB1_uc001ugm.4_Missense_Mutation_p.G177S|SCARB1_uc001ugn.4_Missense_Mutation_p.G177S|SCARB1_uc010tbd.2_Missense_Mutation_p.G177S|SCARB1_uc001ugo.4_Missense_Mutation_p.G177S NM_001082959 NP_001076428 Q8WTV0 SCRB1_HUMAN Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA. 177 adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) ATGATCTCACCCACAGTGCGGT 0.520000 30 20 0 0 6.4e-05 0 0 C4B 721 broad.mit.edu 37 6 31997551 31997551 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:31997551C>T uc011dpd.2 + 28 3936 c.3885C>T c.(3883-3885)ttC>ttT p.F1295F C4B_uc011dpe.2_Silent_p.F1295F NM_001242823 NP_001229752 P0C0L5 CO4B_HUMAN Homo sapiens complement C4-B-like (LOC100293534), mRNA. 1295 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity AGGGCAGCTTCCAAGGGGGAT 0.642000 19 11 0 0 0.00136819 0 0 ZNF592 9640 broad.mit.edu 37 15 85327175 85327176 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:85327175_85327176GG>AA uc002bld.3 + 3 1605_1606 c.1269_1270GG>AA c.(1267-1272)ggggat>ggAAat p.D424N ZNF592_uc010upb.2_Non-coding_Transcript NM_014630 NP_055445 Q92610 ZN592_HUMAN Homo sapiens zinc finger protein 592 (ZNF592), mRNA. 424 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGATGCCAGGGGATGAGGTGCC 0.594000 11 21 0 0 6.4e-05 0 0 MYO9B 4650 broad.mit.edu 37 19 17283772 17283773 + Splice_Site DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:17283772_17283773GG>AA uc010eak.3 + 13 2292 c.2140_splice c.e13+1 p.G714_splice MYO9B_uc002nfi.3_Splice_Site_p.G714_splice|MYO9B_uc002nfj.1_Splice_Site_p.G714_splice NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 714 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 AAAGGCTGCAGGTGGGAGCTGG 0.624000 14 4 0 0 6.4e-05 0 0 PREX2 80243 broad.mit.edu 37 8 68864761 68864761 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr8:68864761C>T uc003xxv.1 + 0 159 c.132C>T c.(130-132)ttC>ttT p.F44F PREX2_uc003xxu.1_Silent_p.F44F|PREX2_uc011lez.1_Silent_p.F44F|PREX2_uc003xxt.3_Silent_p.F44F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 44 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CGCTGGAGTTCCTGGTGTCGG 0.706000 6 4 0 0 0.000602214 0 0 MAGI3 260425 broad.mit.edu 37 1 114196509 114196509 + Missense_Mutation SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:114196509C>A uc001edk.3 + 14 2679 c.2498C>A c.(2497-2499)cCc>cAc p.P833H MAGI3_uc001edh.3_Missense_Mutation_p.P858H|MAGI3_uc001edi.4_Missense_Mutation_p.P833H|MAGI3_uc010owm.2_Missense_Mutation_p.P858H|MAGI3_uc001edj.3_Missense_Mutation_p.P554H NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 858 Interaction with BAI1.|PDZ 4. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AATGGATCTCCCCGCCTGAAC 0.478000 55 41 1.15183e-24 8.34271e-24 0.000437636 1 0 LRP5L 91355 broad.mit.edu 37 22 25753278 25753279 + Silent DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:25753278_25753279GG>AA uc003abs.3 - 1 2846_2847 c.381_382CC>TT c.(379-384)gccctg>gcTTtg p.127_128AL>AL LRP5L_uc011ajz.2_Silent_p.127_128AL>AL|LRP5L_uc010guw.1_Silent_p.127_128AL>AL NM_182492 NP_872298 A4QPB2 LRP5L_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA. 127 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 TGCAGGTCCAGGGCCAGGCCGT 0.609000 17 21 0 0 6.4e-05 0 0 BCL6B 255877 broad.mit.edu 37 17 6930825 6930825 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:6930825G>A uc010clt.1 + 8 1389 c.1327G>A c.(1327-1329)Gac>Aac p.D443N BCL6B_uc002geg.2_Missense_Mutation_p.D443N NM_181844 NP_862827 Q8N143 BCL6B_HUMAN Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA. 443 nucleus zinc ion binding skin(1) 1 CCCACAGTGCGACCCCTGTGG 0.592000 19 14 0 0 0.000219431 0 0 FOXI1 2299 broad.mit.edu 37 5 169535099 169535099 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:169535099C>T uc003mai.4 + 1 666 c.621C>T c.(619-621)ttC>ttT p.F207F FOXI1_uc003maj.4_Intron NM_012188 NP_036320 Q12951 FOXI1_HUMAN Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA. 207 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.F207F(2) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGAAAATGTTCGACAATGGAA 0.468000 Pendred syndrome 21 22 0 0 0.000375601 0 0 AMPD1 270 broad.mit.edu 37 1 115229505 115229505 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:115229505G>A uc001efe.2 - 3 389 c.341C>T c.(340-342)aCt>aTt p.T114I AMPD1_uc001eff.2_Missense_Mutation_p.T110I NM_000036 NP_000027 P23109 AMPD1_HUMAN Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA. 81 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) CAAATTAACAGTCTTCCGTCC 0.388000 31 18 0 0 0.000375601 0 0 ONECUT1 3175 broad.mit.edu 37 15 53081678 53081678 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:53081678G>A uc002aci.1 - 0 532 c.404C>T c.(403-405)cCg>cTg p.P135L NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN Homo sapiens one cut homeobox 1 (ONECUT1), mRNA. 135 Poly-His. endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) gtggtggtgcgggtggtggtg 0.632000 13 9 0 0 0.000673444 0 0 ZCCHC18 644353 broad.mit.edu 37 X 103358981 103358982 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrX:103358981_103358982CC>TT uc011msh.2 + 2 1495_1496 c.179_180CC>TT c.(178-180)acc>aTT p.T60I SLC25A53_uc004elu.3_Intron|ZCCHC18_uc011msg.2_Intron NM_001143978 NP_001137450 P0CG32 ZCC18_HUMAN Homo sapiens zinc finger, CCHC domain containing 18 (ZCCHC18), transcript variant 1, mRNA. 60 nucleic acid binding|zinc ion binding GGGAAAGAAACCTTTGAAAACT 0.490000 0 5 0 0 6.4e-05 0 0 FXR2 9513 broad.mit.edu 37 17 7496405 7496405 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:7496405G>A uc002gia.2 - 12 1790 c.1425C>T c.(1423-1425)acC>acT p.T475T SOX15_uc002ghz.1_5'Flank NM_004860 NP_004851 P51116 FXR2_HUMAN Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA. 475 cytosolic large ribosomal subunit RNA binding|protein binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) CTTCCCCTCGGGTTGGGGGAT 0.627000 17 9 0 0 0.000442599 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47628500 47628500 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:47628500C>T uc002xtx.4 + 27 3949 c.3797C>T c.(3796-3798)tCc>tTc p.S1266F ARFGEF2_uc010zyf.2_Missense_Mutation_p.S559F NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 1266 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GCCATCGATTCCTTTCAGGAT 0.478000 95 43 0 0 0.000680045 0 0 OR4M2 390538 broad.mit.edu 37 15 22368705 22368705 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:22368705C>T uc010tzu.2 + 0 228 c.130C>T c.(130-132)Ctt>Ttt p.L44F abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) AGGAAATATCCTTATCATTTG 0.408000 82 19 0 0 0.00121646 0 0 PDGFD 80310 broad.mit.edu 37 11 103818392 103818392 + Missense_Mutation SNP A C C TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:103818392A>C uc001phq.3 - 3 943 c.571T>G c.(571-573)Tca>Gca p.S191A PDGFD_uc001php.3_Missense_Mutation_p.S185A NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA. 191 positive regulation of cell division Golgi membrane|endoplasmic reticulum lumen|extracellular region growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) TTACTTACTGAAATAGAGCTT 0.453000 17 11 0 0 0.00136819 0 0 NUP155 9631 broad.mit.edu 37 5 37341336 37341336 + Silent SNP A G G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:37341336A>G uc003jku.1 - 10 1220 c.1102T>C c.(1102-1104)Tta>Cta p.L368L NUP155_uc003jkt.1_Silent_p.L309L|NUP155_uc010iuz.1_Silent_p.L368L NM_153485 NP_004289 O75694 NU155_HUMAN Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA. 368 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTAAAATATAACCTAACACCT 0.413000 7 9 0 0 0.000673444 0 0 HLA-F 3134 broad.mit.edu 37 6 29695792 29695792 + Missense_Mutation SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:29695792C>A uc011dlx.1 + 7 1341 c.1217C>A c.(1216-1218)tCc>tAc p.S406Y HLA-F_uc011dly.1_Intron|HLA-F-AS1_uc003nnp.2_Intron|HLA-F-AS1_uc011dlz.1_Intron NM_018950 NP_061823 P30511 HLAF_HUMAN Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 2, mRNA. 0 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 gagcaattttcccaccagagg 0.483000 49 31 8.4185e-14 6.01876e-13 0.000409698 1 0 THOC5 8563 broad.mit.edu 37 22 29921856 29921856 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:29921856G>A uc003afr.3 - 12 1481 c.1146C>T c.(1144-1146)gcC>gcT p.A382A THOC5_uc003afq.3_Silent_p.A43A|THOC5_uc003afs.3_Silent_p.A382A|THOC5_uc003aft.3_Silent_p.A382A|THOC5_uc003afu.3_Silent_p.A382A NM_001002878 NP_003669 Q13769 THOC5_HUMAN Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA. 382 RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton RNA binding|protein binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCAGCTCCATGGCAGTTGTCA 0.532000 28 39 0 0 0.000781405 0 0 PLXNB1 5364 broad.mit.edu 37 3 48448229 48448230 + Splice_Site DNP CC TT TT TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:48448229_48448230CC>TT uc003csw.2 - 36 6498 c.6228_splice c.e36+1 p.W2076_splice PLXNB1_uc003cst.2_Splice_Site_p.W526_splice|PLXNB1_uc003csu.2_Splice_Site_p.W1893_splice|PLXNB1_uc003csx.2_Splice_Site_p.W2076_splice NM_002673 NP_002664 O43157 PLXB1_HUMAN Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA. 2076 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGAGGCCTTACCCAGGACAGTT 0.594000 3 10 0 0 6.4e-05 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76573616 76573616 + Splice_Site SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:76573616G>A uc002fex.1 + 19 3369 c.3230_splice c.e19-1 p.G1077_splice CNTNAP4_uc002feu.1_Splice_Site_p.G1073_splice|CNTNAP4_uc002fev.1_Splice_Site_p.G938_splice|CNTNAP4_uc010chb.1_Splice_Site_p.G1001_splice NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 1074 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CCCACTCTAGGAAGTTTGCAG 0.323000 21 12 0 0 0.000978159 0 0 CD300A 11314 broad.mit.edu 37 17 72469892 72469892 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:72469892C>T uc002jkv.3 + 1 579 c.258C>T c.(256-258)ttC>ttT p.F86F CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN Homo sapiens CD300a molecule (CD300A), mRNA. 86 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 ACCTCAGCTTCACAGTGACCC 0.532000 22 17 0 0 0.00074312 0 0 ZNF354B 117608 broad.mit.edu 37 5 178309840 178309840 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:178309840G>A uc003mjl.3 + 4 613 c.387G>A c.(385-387)gaG>gaA p.E129E ZNF354B_uc003mjm.3_Silent_p.E129E NM_058230 NP_478137 Q96LW1 Z354B_HUMAN Homo sapiens zinc finger protein 354B (ZNF354B), mRNA. 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E129D(2)|p.E129Q(1) breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TATATGAAGAGAAATTAAAGA 0.328000 18 14 0 0 0.000308642 0 0 CACNA1E 777 broad.mit.edu 37 1 181767811 181767811 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:181767811C>T uc009wxt.3 + 47 6978 c.6783C>T c.(6781-6783)ggC>ggT p.G2261G CACNA1E_uc001gow.3_Silent_p.G2218G|CACNA1E_uc009wxs.3_Silent_p.G2199G NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2261 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTAGCCTGGGCCGTTCCAACA 0.672000 14 5 0 0 0.000602214 0 0 PRSS58 136541 broad.mit.edu 37 7 141955395 141955395 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr7:141955395G>A uc003vxb.3 - 1 459 c.139C>T c.(139-141)Cac>Tac p.H47Y PRSS58_uc003vxc.4_Missense_Mutation_p.H47Y NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN Homo sapiens protease, serine, 58 (PRSS58), mRNA. 47 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.H47H(1) kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 CAAAGCGGGTGGATCAGGACT 0.498000 3 13 0 0 0.00136819 0 0 HOXC4 3221 broad.mit.edu 37 12 54448812 54448812 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:54448812C>T uc001seu.3 + 3 1298 c.618C>T c.(616-618)aaC>aaT p.N206N HOXC4_uc001sex.3_Silent_p.N206N NM_014620 NP_705897 P09017 HXC4_HUMAN Homo sapiens homeobox C4 (HOXC4), transcript variant 1, mRNA. 206 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 GGTTCCAAAACCGTCGCATGA 0.577000 9 9 0 0 0.000274275 0 0 SPEG 10290 broad.mit.edu 37 2 220355507 220355508 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:220355507_220355508GG>AA uc010fwg.3 + 37 9214_9215 c.9214_9215GG>AA c.(9214-9216)ggc>AAc p.G3072N NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 3072 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCTGCTACAAGGCCTGGACTAC 0.594000 45 16 0 0 6.4e-05 0 0 SPEN 23013 broad.mit.edu 37 1 16255268 16255268 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:16255268G>A uc001axk.1 + 10 2737 c.2533G>A c.(2533-2535)Gag>Aag p.E845K SPEN_uc010obp.1_Missense_Mutation_p.E804K NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 845 Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AAATGAGCGAGAGCAAAGCCC 0.463000 20 20 0 0 0.000958276 0 0 GRM7 2917 broad.mit.edu 37 3 7620516 7620516 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:7620516C>T uc003bqm.2 + 7 2197 c.1923C>T c.(1921-1923)atC>atT p.I641I GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.I641I|GRM7_uc003bql.2_Silent_p.I641I|GRM7_uc003bqn.1_Silent_p.I224I|GRM7_uc010hch.1_Silent_p.I152I NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 641 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TTTGCTACATCATCACTTTCC 0.498000 52 25 0 0 0.000339439 0 0 CELA2B 51032 broad.mit.edu 37 1 15813865 15813865 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:15813865G>A uc001awl.3 + 6 750 c.725G>A c.(724-726)gGt>gAt p.G242D NM_015849 NP_056933 P08218 CEL2B_HUMAN Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA. 242 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 TCGGTCCTTGGTTGCAACTAC 0.602000 42 38 0 0 0.000589545 0 0 C18orf34 374864 broad.mit.edu 37 18 30803134 30803134 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr18:30803134C>T uc010xbr.1 - 16 2010 c.1868G>A c.(1867-1869)gGa>gAa p.G623E C18orf34_uc010dme.1_Missense_Mutation_p.G137E|C18orf34_uc002kxn.2_Missense_Mutation_p.G623E|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Intron|C18orf34_uc002kxp.3_Missense_Mutation_p.G623E NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA. 623 NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2) 65 CTTTACTTTTCCCACCTTTCT 0.299000 7 7 0 0 8.12818e-05 0 0 KRT84 3890 broad.mit.edu 37 12 52777531 52777531 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr12:52777531G>A uc001sah.1 - 1 646 c.598C>T c.(598-600)Ctc>Ttc p.L200F NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN Homo sapiens keratin 84 (KRT84), mRNA. 200 Coil 1A.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TGCTCTTGGAGGAAGCTCCAC 0.512000 16 21 0 0 0.000295444 0 0 FHOD1 29109 broad.mit.edu 37 16 67281244 67281244 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:67281244C>T uc002esl.3 - 0 182 c.70G>A c.(70-72)Gaa>Aaa p.E24K FHOD1_uc010ced.3_5'UTR|FHOD1_uc010vjh.1_5'UTR|SLC9A5_uc002esm.3_5'Flank|SLC9A5_uc010cee.3_5'Flank|SLC9A5_uc010vji.2_5'Flank NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA. 24 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TCGGTGTCTTCCAGGTACTGC 0.721000 15 5 0 0 0.000602214 0 0 WNT8B 7479 broad.mit.edu 37 10 102222964 102222964 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr10:102222964C>T uc001krb.3 + 0 153 c.39C>T c.(37-39)ttC>ttT p.F13F NM_003393 NP_003384 Q93098 WNT8B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA. 13 Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) TCTGTCTTTTCACCTGTGTCC 0.438000 9 19 0 0 0.00047179 0 0 PHLPP2 23035 broad.mit.edu 37 16 71748507 71748507 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:71748507G>A uc002fax.3 - 0 198 c.192C>T c.(190-192)ctC>ctT p.L64L PHLPP2_uc010cgf.3_Silent_p.L64L|PHLPP2_uc002fay.1_Silent_p.L64L NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA. 64 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TGCAAAGGACGAGATGTAAGT 0.493000 18 16 0 0 0.000566183 0 0 ANKRD11 29123 broad.mit.edu 37 16 89346549 89346549 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:89346549C>T uc002fmx.1 - 8 6862 c.6401G>A c.(6400-6402)gGg>gAg p.G2134E ANKRD11_uc002fmy.1_Missense_Mutation_p.G2134E|ANKRD11_uc002fnc.1_Missense_Mutation_p.G2134E|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.G2091E NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 2134 Pro-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GGAGAAGGGCCCCAGGTCCAG 0.667000 5 4 0 0 0.00024832 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32975148 32975148 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:32975148C>T uc003ocr.3 - 2 629 c.553G>A c.(553-555)Gac>Aac p.D185N HLA-DOA_uc010juj.3_Missense_Mutation_p.D155N|HLA-DOA_uc010jui.3_Missense_Mutation_p.D185N NM_002119 NP_002110 P06340 DOA_HUMAN Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA. 185 Alpha-2.|Ig-like C1-type. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 TCATAGACGTCCTCGGCTGAG 0.627000 72 49 0 0 0.000781405 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129009 248129009 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:248129009G>A uc010pzd.2 + 0 376 c.376G>A c.(376-378)Gaa>Aaa p.E126K OR2L13_uc001ids.3_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA. 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TGGTGGAACTGAAGCCCTTCT 0.443000 144 40 0 0 0.000509022 0 0 SCN7A 6332 broad.mit.edu 37 2 167263091 167263091 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:167263091G>A uc002udu.2 - 24 4178 c.4048C>T c.(4048-4050)Ctc>Ttc p.L1350F SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 1350 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ATCCGTGAGAGAAGTATCAGT 0.453000 31 8 0 0 0.000274275 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610323 47610323 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:47610323C>T uc001cqv.1 + 7 1050 c.999C>T c.(997-999)atC>atT p.I333I CYP4A22_uc009vyo.3_Silent_p.I333I|CYP4A22_uc009vyp.3_Intron NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA. 333 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTCCTGGATCCTCTATGCTC 0.592000 19 6 0 0 0.00136819 0 0 APOH 350 broad.mit.edu 37 17 64219848 64219848 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:64219848C>T uc002jfn.4 - 3 442 c.383G>A c.(382-384)gGa>gAa p.G128E NM_000042 NP_000033 P02749 APOH_HUMAN Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA. 128 Sushi 2. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) GCTCCATTTTCCTTCCTCAGT 0.458000 39 25 0 0 0.00127121 0 0 GLCE 26035 broad.mit.edu 37 15 69560649 69560649 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:69560649C>T uc002ary.1 + 4 1148 c.920C>T c.(919-921)tCc>tTc p.S307F NM_015554 NP_056369 O94923 GLCE_HUMAN Homo sapiens glucuronic acid epimerase (GLCE), mRNA. 307 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 GGAAGTGTGTCCGTGGTTCTA 0.373000 27 17 0 0 0.000566183 0 0 RNF213 57674 broad.mit.edu 37 17 78280188 78280188 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:78280188C>T uc002jyh.2 + 12 2637 c.2494C>T c.(2494-2496)Cgt>Tgt p.R832C RNF213_uc002jyf.3_Missense_Mutation_p.R783C|RNF213_uc021uen.1_Missense_Mutation_p.R783C|RNF213_uc002jyg.1_Missense_Mutation_p.R514C NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN SubName: Full=Uncharacterized protein; 783 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GCACCTGGGTCGTTTTCCTGC 0.488000 28 21 0 0 0.000229342 0 0 SMCR7 125170 broad.mit.edu 37 17 18166422 18166422 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:18166422C>T uc010vxq.2 + 2 229 c.203C>T c.(202-204)cCg>cTg p.P68L SMCR7_uc002gsu.3_Missense_Mutation_p.P57L|SMCR7_uc002gst.3_Missense_Mutation_p.P57L NM_148886 NP_631901 Q96C03 SMCR7_HUMAN Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 57 integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) GCCACTAGCCCGCGGGATGAG 0.582000 23 12 0 0 0.000566183 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140741831 140741831 + Missense_Mutation SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:140741831C>A uc003ljs.2 + 0 2129 c.2129C>A c.(2128-2130)gCa>gAa p.A710E PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.A710E|PCDHGC5_uc011das.2_5'Flank NM_018923 NP_061746 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA. 712 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGATTCTGGCAATCTCCCTG 0.582000 40 20 3.8784e-16 2.77797e-15 0.000229342 1 0 AMMECR1L 83607 broad.mit.edu 37 2 128627105 128627105 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:128627105C>T uc002tpl.3 - 5 898 c.647G>A c.(646-648)gGg>gAg p.G216E AMMECR1L_uc002tpm.3_Missense_Mutation_p.G216E NM_031445 NP_113633 Q6DCA0 AMERL_HUMAN Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA. 216 AMMECR1. central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 9 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.07) AATTCGAATCCCATGGACCCC 0.383000 26 20 0 0 0.000229342 0 0 LY75-CD302 100526664 broad.mit.edu 37 2 160708726 160708726 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:160708726G>A uc002ubb.4 - 20 2943 c.2869C>T c.(2869-2871)Cct>Tct p.P957S LY75-CD302_uc010fos.3_Missense_Mutation_p.P957S|LY75-CD302_uc002ubc.4_Missense_Mutation_p.P957S NM_001198759 NP_001185688 O60449 LY75_HUMAN Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA. 957 endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding TTCTGAAAAGGAATCCATTGC 0.378000 18 21 0 0 0.000295444 0 0 ZNF35 7584 broad.mit.edu 37 3 44700466 44700466 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:44700466G>A uc003cnq.3 + 3 832 c.611G>A c.(610-612)aGc>aAc p.S204N ZNF35_uc003cnr.3_Missense_Mutation_p.S44N NM_003420 NP_003411 P13682 ZNF35_HUMAN Homo sapiens zinc finger protein 35 (ZNF35), mRNA. 204 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) GGAAAATATAGCCTTAATTCT 0.393000 50 74 0 0 0.000781405 0 0 BIRC6 57448 broad.mit.edu 37 2 32800257 32800257 + Silent SNP G A A rs34145838 TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:32800257G>A uc010ezu.3 + 65 13313 c.13179G>A c.(13177-13179)cgG>cgA p.R4393R NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 4393 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CACTCTATCGGGCACTGCTGG 0.458000 105 58 0 0 0.000781405 0 0 OLFML2B 25903 broad.mit.edu 37 1 161976240 161976240 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:161976240C>T uc010pkq.2 - 3 994 c.570G>A c.(568-570)aaG>aaA p.K190K OLFML2B_uc001gbu.3_Silent_p.K190K NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA. 190 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GTTCATTTTCCTTGGTGAGGT 0.418000 29 60 0 0 0.000781405 0 0 MFSD4 148808 broad.mit.edu 37 1 205549978 205549978 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:205549978C>T uc001hcv.4 + 2 705 c.619C>T c.(619-621)Cca>Tca p.P207S MFSD4_uc010prk.2_Intron|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Missense_Mutation_p.P152S NM_181644 NP_857595 Q8N468 MFSD4_HUMAN Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA. 207 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CCAGACGTTCCCAGGGCTGAC 0.622000 15 25 0 0 0.00047179 0 0 IRF3 3661 broad.mit.edu 37 19 50165495 50165495 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:50165495G>A uc002poy.2 - 4 1711 c.692C>T c.(691-693)tCc>tTc p.S231F IRF3_uc021uxp.1_Missense_Mutation_p.S85F|IRF3_uc021uxq.1_Missense_Mutation_p.S85F|IRF3_uc002pot.2_Intron|IRF3_uc021uxr.1_Intron|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Missense_Mutation_p.S231F|IRF3_uc021uxo.1_Missense_Mutation_p.S196F|IRF3_uc002pou.3_Missense_Mutation_p.S231F|IRF3_uc010end.2_Missense_Mutation_p.S231F|IRF3_uc002poz.1_Missense_Mutation_p.S231F|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank NM_001197126 NP_001184055 Q14653 IRF3_HUMAN Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA. 231 Involved in HERC5 binding. MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) TCCCACTTCGGACCCCACCAG 0.642000 23 17 0 0 0.000422831 0 0 UNC79 57578 broad.mit.edu 37 14 94046521 94046521 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:94046521G>A uc001ybv.1 + 15 2012 c.1929G>A c.(1927-1929)acG>acA p.T643T UNC79_uc001ybs.1_Silent_p.T643T NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 820 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATGGAATCACGATGGGTTTAG 0.418000 30 19 0 0 0.000720815 0 0 ZNF695 57116 broad.mit.edu 37 1 247151498 247151499 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:247151498_247151499GG>AA uc009xgu.3 - 3 503_504 c.318_319CC>TT c.(316-321)ttccaa>ttTTaa p.Q107* ZNF695_uc001ica.3_Non-coding_Transcript|ZNF695_uc001icb.2_Non-coding_Transcript|ZNF695_uc009xgt.2_Non-coding_Transcript|ZNF695_uc001ibx.3_Nonsense_Mutation_p.Q107*|ZNF695_uc001iby.3_Intron|ZNF695_uc001icc.3_Nonsense_Mutation_p.Q95* NM_020394 NP_065127 Q8IW36 ZN695_HUMAN Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA. 107 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-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) ATCACTTTTTGGAATGAAACTT 0.376000 66 118 0 0 6.4e-05 0 0 SNX1 6642 broad.mit.edu 37 15 64418364 64418364 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr15:64418364G>A uc002amv.3 + 5 727 c.597G>A c.(595-597)gaG>gaA p.E199E SNX1_uc010bgv.3_5'UTR|SNX1_uc010uio.2_Silent_p.E199E|SNX1_uc002amx.3_Silent_p.E134E|SNX1_uc010bgw.3_Silent_p.E101E NM_003099 NP_003090 Q13596 SNX1_HUMAN Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA. 199 PX. cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport Golgi apparatus|early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 AGCTTTCCGAGAAGCACTCTC 0.453000 19 18 0 0 0.00074312 0 0 MTMR4 9110 broad.mit.edu 37 17 56572663 56572663 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:56572663G>A uc002iwj.2 - 15 2950 c.2840C>T c.(2839-2841)cCc>cTc p.P947L NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 947 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCCAAAGCAGGGCCCTGTGGC 0.567000 19 18 0 0 0.00121646 0 0 RFPL2 10739 broad.mit.edu 37 22 32587083 32587084 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:32587083_32587084GG>AA uc003amg.3 - 4 1748_1749 c.812_813CC>TT c.(811-813)acc>aTT p.T271I RFPL2_uc003ame.3_Missense_Mutation_p.T210I|RFPL2_uc003amf.3_Missense_Mutation_p.T181I|RFPL2_uc003amh.3_Missense_Mutation_p.T181I NM_001098527 NP_001153018 O75678 RFPL2_HUMAN Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA. 271 B30.2/SPRY. zinc ion binding p.T210T(2)|p.T181T(2)|p.T271T(2) endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 CAAGCTCTGTGGTCAGCTGGAT 0.584000 17 34 0 0 6.4e-05 0 0 ZNF217 7764 broad.mit.edu 37 20 52199275 52199275 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:52199275G>A uc002xwq.4 - 0 433 c.91C>T c.(91-93)Ccg>Tcg p.P31S ZNF217_uc010gij.1_Missense_Mutation_p.P23S NM_006526 NP_006517 O75362 ZN217_HUMAN Homo sapiens zinc finger protein 217 (ZNF217), mRNA. 31 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) ATCTCCATCGGACTGCCAAGA 0.458000 46 25 0 0 0.000720815 0 0 MBNL1 4154 broad.mit.edu 37 3 152174058 152174058 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:152174058C>T uc003ezm.3 + 6 1807 c.1018C>T c.(1018-1020)Ccc>Tcc p.P340S MBNL1_uc003ezh.3_Missense_Mutation_p.P334S|MBNL1_uc003ezi.3_Missense_Mutation_p.P322S|MBNL1_uc003ezj.3_Missense_Mutation_p.P295S|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Silent_p.F270F|MBNL1_uc003ezn.3_Missense_Mutation_p.P266S|MBNL1_uc003ezo.3_Missense_Mutation_p.P254S|MBNL1_uc010hvp.3_Intron NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA. 340 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TCCGAAAGTTCCCATGGTGCA 0.483000 10 36 0 0 0.000814825 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934823 113934823 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:113934823G>A uc001pop.3 + 1 1065 c.801G>A c.(799-801)ggG>ggA p.G267G ZBTB16_uc001poo.1_Silent_p.G267G|ZBTB16_uc001poq.3_Silent_p.G267G NM_006006 NP_005997 Q05516 ZBT16_HUMAN Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA. 267 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent PML body|nuclear speck|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TCTCAGGAGGGATGGGGGACA 0.632000 16 5 0 0 0.00116845 0 0 EXT2 2132 broad.mit.edu 37 11 44193160 44193160 + Splice_Site SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:44193160G>A uc001mya.3 + 8 1329 c.1273_splice c.e8-1 p.A425_splice EXT2_uc010rfo.2_Splice_Site_p.A420_splice|EXT2_uc009ykt.3_Intron|EXT2_uc001mxz.3_Splice_Site_p.A392_splice NM_000401 NP_000392 Q93063 EXT2_HUMAN Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA. 392 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 TTTCTTTATAGGCCCGGTGGT 0.438000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 40 32 0 0 0.000692331 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187251 37187251 + RNA SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:37187251C>T uc002hrd.1 + 0 c.1093C>T Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA. GACTACAGCTCCTCCAAAACA 0.488000 3 3 0 0 6.4e-05 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912605 77912605 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chrX:77912605C>T uc022bzi.1 - 0 1313 c.1313G>A c.(1312-1314)cGt>cAt p.R438H ZCCHC5_uc004edc.1_Missense_Mutation_p.R438H NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA. 438 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TTTGTGCCAACGGACCCATTC 0.547000 1 11 0 0 0.00136819 0 0 ARMC9 80210 broad.mit.edu 37 2 232137678 232137678 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:232137678C>T uc002vrq.4 + 13 1333 c.1221C>T c.(1219-1221)taC>taT p.Y407Y ARMC9_uc002vrp.4_Silent_p.Y407Y|ARMC9_uc002vrr.1_Non-coding_Transcript NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA. 407 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) GTCGCCTCTACCTTGCCCAGA 0.468000 100 140 0 0 0.000781405 0 0 BBS12 166379 broad.mit.edu 37 4 123664480 123664480 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr4:123664480C>T uc021xrm.1 + 2 1814 c.1433C>T c.(1432-1434)cCt>cTt p.P478L BBS12_uc003ieu.3_Missense_Mutation_p.P478L|BBS12_uc021xrn.1_Missense_Mutation_p.P478L NM_001178007 NP_689831 Q6ZW61 BBS12_HUMAN Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA. 478 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 AGAAGCAGCCCTTTGGATGTT 0.473000 Bardet-Biedl syndrome 26 28 0 0 0.001512 0 0 DACT1 51339 broad.mit.edu 37 14 59113370 59113370 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:59113370C>T uc001xdw.3 + 3 2193 c.2029C>T c.(2029-2031)Cgg>Tgg p.R677W DACT1_uc010trv.2_Missense_Mutation_p.R396W|DACT1_uc001xdx.3_Missense_Mutation_p.R640W|DACT1_uc010trw.2_Missense_Mutation_p.R396W NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA. 677 Wnt receptor signaling pathway|multicellular organismal development cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 AACTGACTACCGGCGGTGGAA 0.721000 11 7 0 0 0.000274275 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475705 140475705 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr5:140475705C>T uc003lil.3 + 0 1469 c.1331C>T c.(1330-1332)tCc>tTc p.S444F PCDHB2_uc003lim.1_Missense_Mutation_p.S105F NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 444 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGCTGGTCTCCGACGTCAAT 0.607000 46 26 0 0 0.00127121 0 0 NEK9 91754 broad.mit.edu 37 14 75587855 75587855 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:75587855G>A uc001xrl.3 - 2 574 c.420C>T c.(418-420)atC>atT p.I140I NM_033116 NP_149107 Q8TD19 NEK9_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA. 140 Protein kinase. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) TCTGACGAAGGATTTTGTCAT 0.368000 29 19 0 0 0.000375601 0 0 NLRP11 204801 broad.mit.edu 37 19 56312966 56312966 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:56312966C>T uc010ygf.2 - 6 2854 c.2143G>A c.(2143-2145)Gag>Aag p.E715K NLRP11_uc002qlz.3_Missense_Mutation_p.E562K|NLRP11_uc002qmb.3_Missense_Mutation_p.E616K|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 715 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CATGTGGGCTCGTGCAGGATG 0.498000 37 26 0 0 0.000491102 0 0 RABGAP1 23637 broad.mit.edu 37 9 125852639 125852639 + Missense_Mutation SNP T A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr9:125852639T>A uc011lzh.2 + 20 2737 c.2603T>A c.(2602-2604)aTt>aAt p.I868N RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Missense_Mutation_p.I207N NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA. 868 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 ACCAGCAAGATTGCACTACGG 0.478000 4 21 0 0 0.00047179 0 0 ICAM4 3386 broad.mit.edu 37 19 10398009 10398009 + Nonsense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:10398009G>A uc002mnr.2 + 0 367 c.321G>A c.(319-321)tgG>tgA p.W107* ICAM4_uc002mns.2_Nonsense_Mutation_p.W107*|ICAM4_uc002mnt.2_Nonsense_Mutation_p.W107*|ICAM5_uc002mnu.4_5'Flank NM_001039132 NP_001034221 Q14773 ICAM4_HUMAN Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA. 107 Ig-like C2-type 1. cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding breast(1)|large_intestine(3)|lung(2)|pancreas(1) 7 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TGAGGGCCTGGAGCTCCCTCG 0.677000 8 7 0 0 8.12818e-05 0 0 TRAF1 7185 broad.mit.edu 37 9 123667328 123667328 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr9:123667328G>A uc004bku.2 - 7 1793 c.1221C>T c.(1219-1221)ttC>ttT p.F407F TRAF1_uc011lyg.2_Silent_p.F285F|TRAF1_uc010mvl.2_Silent_p.F407F NM_005658 NP_001177876 Q13077 TRAF1_HUMAN Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA. 407 MATH. apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2) 22 TGCACTTGAGGAACATTGTGT 0.587000 3 37 0 0 0.000374591 0 0 LPA 4018 broad.mit.edu 37 6 161071386 161071386 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr6:161071386C>T uc003qtl.3 - 2 313 c.193G>A c.(193-195)Gaa>Aaa p.E65K NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 2573 Kringle 1. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GGGTAGTTTTCTGTGGTCCTA 0.418000 11 46 0 0 0.000781405 0 0 BFSP1 631 broad.mit.edu 37 20 17475605 17475605 + Missense_Mutation SNP G T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr20:17475605G>T uc002wpo.3 - 7 1151 c.1112C>A c.(1111-1113)cCa>cAa p.P371Q BFSP1_uc002wpp.3_Missense_Mutation_p.P246Q|BFSP1_uc010zrn.2_Missense_Mutation_p.P232Q|BFSP1_uc010zro.2_Missense_Mutation_p.P232Q NM_001195 NP_001186 Q12934 BFSP1_HUMAN Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA. 371 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 TTTTCTCCTTGGAACATTCTT 0.418000 137 7 0.000442599 0.0031014 0.000442599 1 0 EFCAB6 64800 broad.mit.edu 37 22 43950763 43950764 + Silent DNP GG AA AA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:43950763_43950764GG>AA uc003bdy.2 - 26 3947_3948 c.3633_3634CC>TT c.(3631-3636)atcctg>atTTtg p.1211_1212IL>IL EFCAB6_uc003bdz.2_Silent_p.1059_1060IL>IL|EFCAB6_uc010gzi.2_Silent_p.1059_1060IL>IL|EFCAB6_uc010gzj.1_Silent_p.437_438IL>IL NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 1211 EF-hand 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TCGTCCGTCAGGATTTGGACGC 0.520000 72 22 0 0 6.4e-05 0 0 PCP4L1 654790 broad.mit.edu 37 1 161253506 161253506 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:161253506G>A uc001gad.3 + 1 306 c.58G>A c.(58-60)Gaa>Aaa p.E20K NM_001102566 NP_001096036 A6NKN8 PC4L1_HUMAN Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA. 20 endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGGCCAAGAGGAAAAAGGTGA 0.418000 3 6 0 0 0.000157383 0 0 MUC2 4583 broad.mit.edu 37 11 1097792 1097792 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:1097792C>T uc001lsx.1 + 37 6900 c.6873C>T c.(6871-6873)tcC>tcT p.S2291S NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 4657 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACGACCCCTCCAAGCCACACT 0.657000 10 4 0 0 0.00024832 0 0 COL11A1 1301 broad.mit.edu 37 1 103491421 103491421 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:103491421C>T uc001dum.3 - 5 1186 c.868G>A c.(868-870)Gaa>Aaa p.E290K COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 292 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.E290V(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GAAAATTTTTCAGATTTGGGG 0.348000 56 44 0 0 0.000680045 0 0 METTL4 64863 broad.mit.edu 37 18 2566903 2566903 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr18:2566903G>A uc002klh.4 - 1 1093 c.313C>T c.(313-315)Cat>Tat p.H105Y NM_022840 NP_073751 Q8N3J2 METL4_HUMAN Homo sapiens methyltransferase like 4 (METTL4), mRNA. 105 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 CATTCTTTATGAACAGCTGGA 0.328000 37 24 0 0 0.00106085 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111926203 111926203 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr13:111926203C>T uc001vrs.2 + 10 1429 c.1179C>T c.(1177-1179)agC>agT p.S393S ARHGEF7_uc001vrr.2_Silent_p.S372S|ARHGEF7_uc001vrt.2_Silent_p.S343S|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vrv.4_Silent_p.S215S|ARHGEF7_uc001vrw.4_Silent_p.S215S|ARHGEF7_uc001vrx.4_Silent_p.S215S|ARHGEF7_uc010tjo.2_Silent_p.S290S|ARHGEF7_uc010tjp.1_Silent_p.S137S|ARHGEF7_uc010agn.1_Silent_p.S137S NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA. 393 DH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) GTGCCAGCAGCCCTGGGATTC 0.557000 48 13 0 0 0.000422831 0 0 IGHE 3497 broad.mit.edu 37 14 106067047 106067047 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:106067047C>T uc001yrw.1 - 3 780 c.768G>A c.(766-768)gtG>gtA p.V256V abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.V203V|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank RecName: Full=Ig epsilon chain C region; GTGCCAGGTCCACCACCAGAC 0.632000 1 15 0 0 0.000308642 0 0 YSK4 80122 broad.mit.edu 37 2 135745452 135745452 + Silent SNP C T T rs144042857 TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:135745452C>T uc002tue.1 - 6 1021 c.990G>A c.(988-990)ttG>ttA p.L330L YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.L217L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Silent_p.L58L|YSK4_uc002tui.4_Silent_p.L347L NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 330 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) CAAAAGACACCAAAGACTGCC 0.398000 29 39 0 0 0.000374591 0 0 RRP7B 91695 broad.mit.edu 37 22 42970745 42970745 + RNA SNP G A A rs137060 by1000genomes TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr22:42970745G>A uc003bcs.3 - 6 c.837C>T RRP7B_uc003bct.3_Non-coding_Transcript Homo sapiens ribosomal RNA processing 7 homolog B (S. cerevisiae) (RRP7B), non-coding RNA. CGGCTCAGTAGGGTCGGAATT 0.642000 14 4 0 0 0.00024832 0 0 WDR54 84058 broad.mit.edu 37 2 74650500 74650500 + Missense_Mutation SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:74650500G>A uc002slb.3 + 3 400 c.340G>A c.(340-342)Gat>Aat p.D114N NM_032118 NP_115494 Q9H977 WDR54_HUMAN Homo sapiens WD repeat domain 54 (WDR54), mRNA. 114 breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 GGACTCTGGAGATGCCTCCCC 0.562000 27 42 0 0 0.000509022 0 0 TEX14 56155 broad.mit.edu 37 17 56665017 56665017 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr17:56665017C>T uc010dcz.2 - 16 2849 c.2731G>A c.(2731-2733)Gaa>Aaa p.E911K TEX14_uc002iwr.2_Missense_Mutation_p.E905K|TEX14_uc002iws.2_Missense_Mutation_p.E905K|TEX14_uc010dda.2_Missense_Mutation_p.E685K NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 911 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) GAAACAGGTTCCACACTCATC 0.413000 OREG0024616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 22 0 0 0.000375601 0 0 EPHA6 285220 broad.mit.edu 37 3 97439161 97439161 + Silent SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:97439161C>T uc010how.1 + 14 2884 c.2841C>T c.(2839-2841)ttC>ttT p.F947F EPHA6_uc003drt.3_Silent_p.F339F|EPHA6_uc010hox.1_Non-coding_Transcript NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 852 integral to plasma membrane ATP binding|ephrin receptor activity p.F853F(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 ACAGAAAATTCTCCTCAGCAA 0.458000 28 31 0 0 0.000339439 0 0 C2orf78 388960 broad.mit.edu 37 2 74042329 74042329 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:74042329C>T uc002sjr.1 + 2 1100 c.979C>T c.(979-981)Cca>Tca p.P327S NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA. 327 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TGAGAGTAACCCATCACCTGA 0.458000 19 27 0 0 0.00178596 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125824752 125824752 + Silent SNP G A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:125824752G>A uc003eim.1 - 21 2660 c.2470C>T c.(2470-2472)Ctg>Ttg p.L824L ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.L723L|ALDH1L1_uc003ein.1_Silent_p.L359L NM_012190 NP_036322 O75891 AL1L1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA. 824 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity p.V823L(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GCCCGAGACAGCACGGCATCC 0.607000 14 20 0 0 0.00152264 0 0 abParts 0 broad.mit.edu 37 14 106552558 106552558 + RNA SNP C A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr14:106552558C>A uc021ser.1 - 1994 c.36609G>T Parts of antibodies, mostly variable regions. CCAAGCCTCCCCCAGACTCCA 0.552000 15 11 9.05144e-12 6.44749e-11 0.000151284 1 0 GPR37L1 9283 broad.mit.edu 37 1 202096948 202096948 + Missense_Mutation SNP C T T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:202096948C>T uc001gxj.3 + 1 773 c.710C>T c.(709-711)cCc>cTc p.P237L NM_004767 NP_004758 O60883 ETBR2_HUMAN Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA. 237 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 AGCACCCTGCCCAAGGTGAGG 0.632000 23 41 0 0 0.00170553 0 0 HIST2H2BC 337873 broad.mit.edu 37 1 149821913 149821916 + Frame_Shift_Del DEL GGAG - - TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr1:149821913_149821916delGGAG uc021oxz.1 - 0 425_428 c.425_428delCTCC c.(424-429)cctccgfs p.P142fs HIST2H2AA3_uc001esx.3_5'Flank|HIST2H3C_uc001esy.3_5'Flank Homo sapiens histone cluster 2, H2bc (HIST2H2BC), non-coding RNA. GGCGACCCGCggagggagggaggg 0.593 --- 7 --- --- 5 --- ALMS1 7840 broad.mit.edu 37 2 73613180 73613181 + Frame_Shift_Del DEL CC - - TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr2:73613180_73613181delCC uc002sje.1 + 0 295_296 c.184_185delCC c.(184-186)cccfs p.P62fs ALMS1_uc002sjf.1_Frame_Shift_Del_p.P62fs NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 62 Glu-rich. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TCACTACGGGCCCCAGCATCTG 0.683 --- 4 --- --- 2 --- ZNF197 10168 broad.mit.edu 37 3 44685004 44685005 + Frame_Shift_Del DEL GT - - TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr3:44685004_44685005delGT uc003cnm.3 + 5 2588_2589 c.2382_2383delGT c.(2380-2385)gagtgtfs p.E794fs ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA. 794 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) AGTGTGATGAGTGTGGCAAATG 0.421 --- 58 --- --- 21 --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + Splice_Site INS - T T rs33924686 by1000genomes TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:102738795_102738796insT uc001phk.3 - 5 727 c.630_splice c.e5+1 p.T210_splice NM_002426 NP_002417 P39900 MMP12_HUMAN Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA. 210 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 --- 6 --- --- 3 --- ATM 472 broad.mit.edu 37 11 108106555 108106556 + Frame_Shift_Ins INS - GGTTA GGTTA TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr11:108106555_108106556insGGTTA uc001pkb.1 + 4 875_876 c.490_491insGGTTA c.(490-492)tggfs p.W164fs ATM_uc009yxr.1_Frame_Shift_Ins_p.W164fs NM_000051 NP_000042 Q13315 ATM_HUMAN Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. 164 DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity p.Q163*(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TCAGCAACAGTGGTTAGGTATG 0.371 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) --- 57 --- --- 14 --- BRD7 29117 broad.mit.edu 37 16 50357594 50357595 + Frame_Shift_Ins INS - A A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr16:50357594_50357595insA uc021thx.1 - 11 1506_1507 c.1346_1347insT c.(1345-1347)ttgfs p.L449fs BRD7_uc002ege.2_Frame_Shift_Ins_p.L449fs NM_013263 NP_037395 Q9NPI1 BRD7_HUMAN Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA. 449 Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) GGCACGTGGCCAAAAACTCATG 0.446 --- 22 --- --- 17 --- DDX49 54555 broad.mit.edu 37 19 19039092 19039093 + Frame_Shift_Del DEL CT - - TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10bb1a92-901e-4a14-80f4-5e88f997754b 65d9054f-653a-4a10-9e25-1fe617481aa2 g.chr19:19039092_19039093delCT uc002nkq.2 + 12 1486_1487 c.1419_1420delCT c.(1417-1422)cactcafs p.H473fs HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_Frame_Shift_Del_p.H366fs|DDX49_uc002nkr.2_Non-coding_Transcript NM_019070 NP_061943 Q9Y6V7 DDX49_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA. 473 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 18 Epithelial(12;0.0289) CTGGGTCCCACTCAGGCCCAGT 0.658 --- 4 --- --- 2 ---