Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SIDT2 51092 broad.mit.edu 37 11 117058406 117058406 + Missense_Mutation SNP G G A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr11:117058406G>A uc001pqg.2 + 11 1191 c.1150G>A c.(1150-1152)Ggt>Agt p.G384S SIDT2_uc010rxe.1_Missense_Mutation_p.G384S|SIDT2_uc001pqh.1_Missense_Mutation_p.G384S|SIDT2_uc001pqi.1_Missense_Mutation_p.G388S NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA. 384 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) CCTCTCTTACGGTTACCAGGG 0.592000 16 81 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309215 248309215 + Missense_Mutation SNP T T A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr1:248309215T>A uc010pze.2 + 0 766 c.766T>A c.(766-768)Ttg>Atg p.L256M NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA. 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) TGGAGCAGGTTTGTTCATGTA 0.507000 82 202 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71683236 71683236 + Missense_Mutation SNP T T C TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr16:71683236T>C uc002fax.3 - 17 3535 c.3529A>G c.(3529-3531)Agg>Ggg p.R1177G PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Missense_Mutation_p.R1110G|PHLPP2_uc021tkv.1_5'Flank NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA. 1177 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 TCCAGATCCCTCCCCCTGCAG 0.542000 3 108 0 0 1 0 0 SEPSECS 51091 broad.mit.edu 37 4 25125832 25125832 + Silent SNP C C A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr4:25125832C>A uc003grg.3 - 10 1440 c.1227G>T c.(1225-1227)ggG>ggT p.G409G SEPSECS_uc003gri.3_Silent_p.G408G|SEPSECS_uc003grh.3_Silent_p.G330G NM_016955 NP_058651 Q9HD40 SPCS_HUMAN Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA. 409 selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|tRNA binding|transferase activity, transferring selenium-containing groups endometrium(1)|large_intestine(4)|lung(2)|stomach(1) 8 Breast(46;0.173) Pyridoxal Phosphate(DB00114) TTTGCATGGACCCAAGAGGCA 0.388000 7 46 0 0 1 0 0 RAB5C 5878 broad.mit.edu 37 17 40282394 40282394 + Missense_Mutation SNP T T G TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr17:40282394T>G uc010cxx.3 - 2 583 c.226A>C c.(226-228)Aag>Cag p.K76Q RAB5C_uc002hyz.3_Missense_Mutation_p.K43Q|RAB5C_uc002hza.3_Missense_Mutation_p.K43Q NM_001252039 NP_001238968 P51148 RAB5C_HUMAN Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA. 43 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) AACTGTCCCTTGACAAAGCGG 0.547000 23 94 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237791321 237791321 + Silent SNP G G A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr1:237791321G>A uc001hyl.1 + 40 6501 c.6381G>A c.(6379-6381)cgG>cgA p.R2127R NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2127 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTCAGATTCGGTCCCTGCTGA 0.483000 3 70 0 0 1 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423522 33423522 + Silent SNP G G A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr6:33423522G>A uc003oeq.3 + 1 913 c.645G>A c.(643-645)gaG>gaA p.E215E ZBTB9_uc021ywp.1_Silent_p.E215E NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA. 215 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 aagaagaagaggaggaggagg 0.552000 3 97 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186114607 186114607 + Missense_Mutation SNP G G A rs111360184 TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr1:186114607G>A uc001grq.1 + 91 14568 c.14339G>A c.(14338-14340)cGg>cAg p.R4780Q MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R349Q NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 4780 TSP type-1 5. response to stimulus|visual perception basement membrane calcium ion binding p.R4780W(1) 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 CAGATGCGGCGGTACCGCACA 0.557000 25 50 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52023341 52023341 + Nonsense_Mutation SNP T T A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr19:52023341T>A uc002pwy.3 - 7 1565 c.1357A>T c.(1357-1359)Aag>Tag p.K453* SIGLEC6_uc002pwz.3_Nonsense_Mutation_p.K437*|SIGLEC6_uc010ydb.2_Nonsense_Mutation_p.K401*|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR NM_001245 NP_001236 O43699 SIGL6_HUMAN Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA. 453 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) ATTCCTCACTTGTGTATCTTG 0.478000 8 114 0 0 1 0 0 C1orf27 54953 broad.mit.edu 37 1 186359875 186359875 + Silent SNP A A G TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr1:186359875A>G uc021pgj.1 + 5 526 c.507A>G c.(505-507)caA>caG p.Q169Q MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Silent_p.Q169Q|C1orf27_uc021pgh.1_Silent_p.Q169Q|C1orf27_uc021pgi.1_Silent_p.Q137Q|C1orf27_uc021pgk.1_Silent_p.Q169Q|C1orf27_uc021pgl.1_Silent_p.Q137Q NM_017847 NP_060317 Q5SWX8 ODR4_HUMAN Homo sapiens chromosome 1 open reading frame 27 (C1orf27), transcript variant 1, mRNA. 169 integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 9 GGAAGTATCAAAGTGGATTAT 0.373000 27 34 0 0 1 0 0 AASDH 132949 broad.mit.edu 37 4 57215792 57215792 + Missense_Mutation SNP C C G TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr4:57215792C>G uc003hbn.3 - 10 2278 c.2125G>C c.(2125-2127)Gac>Cac p.D709H AASDH_uc010ihb.3_Missense_Mutation_p.D224H|AASDH_uc003hbo.3_Missense_Mutation_p.D609H|AASDH_uc011caa.2_Missense_Mutation_p.D556H|AASDH_uc011cab.2_Missense_Mutation_p.D224H|AASDH_uc010ihc.3_Missense_Mutation_p.D709H|AASDH_uc003hbp.3_Missense_Mutation_p.D709H NM_181806 NP_861522 Q4L235 ACSF4_HUMAN Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA. 709 fatty acid metabolic process ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GAAACTGAGTCAGAAGGACAG 0.378000 4 81 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553586 140553586 + Silent SNP C C T TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr5:140553586C>T uc003lit.3 + 0 1344 c.1170C>T c.(1168-1170)ccC>ccT p.P390P NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 390 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P390S(2) 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) ACGATGTCCCCTTCATCCTGA 0.473000 8 63 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92706034 92706034 + Missense_Mutation SNP G G A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr15:92706034G>A uc002bqx.2 + 9 2003 c.1802G>A c.(1801-1803)tGc>tAc p.C601Y SLCO3A1_uc002bqy.2_Missense_Mutation_p.C601Y|SLCO3A1_uc002bqz.1_Missense_Mutation_p.C543Y NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA. 601 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GACTCCACCTGCCTGTTCTGG 0.572000 4 90 0 0 1 0 0 FHL1 2273 broad.mit.edu 37 X 135288575 135288575 + Missense_Mutation SNP G G T TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chrX:135288575G>T uc011mwa.1 + 1 120 c.71G>T c.(70-72)aGc>aTc p.S24I FHL1_uc010nrz.2_5'UTR|FHL1_uc004ezq.2_5'UTR|FHL1_uc004ezo.3_5'UTR|FHL1_uc004ezm.2_Non-coding_Transcript|FHL1_uc004ezl.2_5'UTR|FHL1_uc011mvy.1_5'UTR|FHL1_uc004ezn.2_5'UTR|FHL1_uc022ceu.1_5'UTR|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.S11I|FHL1_uc004ezr.2_5'Flank NM_001159701 NP_001153173 Q13642 FHL1_HUMAN Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 5, mRNA. 0 cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(192;0.000127) GGTCCCTCCAGCTACAAGGTG 0.592000 14 251 0 0 1 0 0 EXD2 55218 broad.mit.edu 37 14 69707775 69707775 + Silent SNP G G C TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr14:69707775G>C uc001xky.3 + 9 2070 c.1824G>C c.(1822-1824)ctG>ctC p.L608L EXD2_uc001xkt.3_Silent_p.L483L|EXD2_uc001xkv.3_Silent_p.L608L|EXD2_uc001xkw.3_Silent_p.L483L|EXD2_uc001xku.3_Silent_p.L353L|EXD2_uc001xkx.3_Silent_p.L483L|EXD2_uc010aqt.3_Silent_p.L608L|EXD2_uc010tte.2_Silent_p.L608L NM_001193360 NP_060669 Q9NVH0 EXD2_HUMAN Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA. 483 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 ATCAGAAGCTGCTCCGGAAAT 0.567000 3 61 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17445952 17445952 + Missense_Mutation SNP C C G TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr20:17445952C>G uc002wpn.3 + 0 1875 c.146C>G c.(145-147)tCt>tGt p.S49C PCSK2_uc002wpl.3_Intron|PCSK2_uc002wpm.3_Intron|PCSK2_uc010zrm.2_Intron NM_001201529 NP_001188458 P16519 NEC2_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 2, mRNA. 397 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCTCTTGCTCTCTGCTTCCT 0.522000 6 21 0 0 1 0 0 TRIM39-RPP21 202658 broad.mit.edu 37 6 30297528 30297528 + Missense_Mutation SNP A A G TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr6:30297528A>G uc010jrz.3 + 2 746 c.434A>G c.(433-435)gAt>gGt p.D145G HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39-RPP21_uc003npz.3_Missense_Mutation_p.D145G|TRIM39-RPP21_uc003nqb.3_Missense_Mutation_p.D145G|TRIM39-RPP21_uc003nqc.3_Missense_Mutation_p.D145G|TRIM39-RPP21_uc010jsa.2_Missense_Mutation_p.D145G NM_021253 NP_067076 A6ZJ12 A6ZJ12_HUMAN Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA. 57 intracellular zinc ion binding CCACTGGACGATGCTACACAG 0.542000 7 67 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113267520 113267520 + Silent SNP T T A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr8:113267520T>A uc003ynu.3 - 61 10158 c.9999A>T c.(9997-9999)gcA>gcT p.A3333A CSMD3_uc003yns.3_Silent_p.A2535A|CSMD3_uc003ynt.3_Silent_p.A3293A|CSMD3_uc011lhx.2_Silent_p.A3164A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 3333 Sushi 26. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAGTGCCATCTGCTTGACATA 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 34 72 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75930351 75930351 + Silent SNP G G T TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr13:75930351G>T uc001vjl.1 - 3 1554 c.1207C>A c.(1207-1209)Cgg>Agg p.R403R TBC1D4_uc010aer.2_Silent_p.R403R|TBC1D4_uc010aes.2_Silent_p.R403R NM_014832 NP_055647 O60343 TBCD4_HUMAN Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA. 403 PID 2. cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GGAGACTCCCGGCAGATAAAG 0.413000 5 45 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43318854 43318854 + Missense_Mutation SNP G G A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr17:43318854G>A uc002iin.3 + 13 1638 c.1438G>A c.(1438-1440)Gtg>Atg p.V480M FMNL1_uc002iiq.3_Missense_Mutation_p.V58M|FMNL1_uc010dag.3_5'Flank|FMNL1_uc021tyj.1_5'Flank NM_005892 NP_005883 O95466 FMNL_HUMAN Homo sapiens formin-like 1 (FMNL1), mRNA. 480 Pro-rich. actin cytoskeleton organization Rho GTPase binding|actin binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 GGAGCTGAAGGTGGAGGAGCT 0.682000 3 4 0 0 1 0 0 PRDM4 11108 broad.mit.edu 37 12 108128006 108128006 + Missense_Mutation SNP G G T TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr12:108128006G>T uc001tmp.3 - 11 2824 c.2387C>A c.(2386-2388)tCt>tAt p.S796Y PRDM4_uc001tmq.3_Non-coding_Transcript NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN Homo sapiens PR domain containing 4 (PRDM4), mRNA. 796 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 TGCAGAAAGAGACTCATCCGC 0.378000 13 138 0 0 1 0 0 SREBF1 6720 broad.mit.edu 37 17 17721595 17721595 + Missense_Mutation SNP G G A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr17:17721595G>A uc002grt.2 - 6 1446 c.1252C>T c.(1252-1254)Cgc>Tgc p.R418C SREBF1_uc002grp.2_5'UTR|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.R134C|SREBF1_uc002grs.2_Missense_Mutation_p.R364C|SREBF1_uc002gru.2_Missense_Mutation_p.R388C|SREBF1_uc010cpp.1_Missense_Mutation_p.R364C|SREBF1_uc010cpq.1_Missense_Mutation_p.R388C NM_001005291 NP_001005291 P36956 SRBP1_HUMAN Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 1, mRNA. 388 Interaction with LMNA (By similarity). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding p.L417L(1) cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 ACAGCAGTGCGCAGACTTAGG 0.542000 4 121 0 0 1 0 0 ZNF187 7741 broad.mit.edu 37 6 28244794 28244794 + Missense_Mutation SNP G G T TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr6:28244794G>T uc011dlc.2 + 4 1628 c.1358G>T c.(1357-1359)aGt>aTt p.S453I ZNF187_uc003nku.4_Missense_Mutation_p.S319I|ZNF187_uc003nkw.4_Missense_Mutation_p.S300I|ZNF187_uc011dle.2_Missense_Mutation_p.S300I|ZNF187_uc011dlf.2_Missense_Mutation_p.S245I|ZNF187_uc011dld.2_Missense_Mutation_p.S452I|ZNF187_uc011dlg.2_Missense_Mutation_p.S300I NM_001023560 NP_001018854 Q16670 ZN187_HUMAN Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA. 453 viral reproduction nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding TATCAGTGTAGTGAATGTGGA 0.423000 5 97 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103496733 103496733 + Missense_Mutation SNP C C A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr1:103496733C>A uc001dum.3 - 4 1037 c.719G>T c.(718-720)aGt>aTt p.S240I COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.S240I|COL11A1_uc001dun.3_Missense_Mutation_p.S240I|COL11A1_uc009weh.3_Missense_Mutation_p.S240I NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 240 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 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) ACAGTCTGGACTATAATGCTC 0.453000 5 34 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140778384 140778384 + Silent SNP C C T TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr5:140778384C>T uc003lkf.2 + 0 690 c.690C>T c.(688-690)atC>atT p.I230I PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.I230I NM_018925 NP_061748 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA. 230 Cadherin 2. 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) AGCTCCGGATCCAGGTAACCG 0.547000 34 201 0 0 1 0 0 KRR1 11103 broad.mit.edu 37 12 75902108 75902108 + Missense_Mutation SNP C C A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr12:75902108C>A uc001sxt.3 - 1 245 c.204G>T c.(202-204)agG>agT p.R68S KRR1_uc009zsc.3_Missense_Mutation_p.R68S|KRR1_uc010stx.2_Missense_Mutation_p.R68S NM_007043 NP_008974 Q13601 KRR1_HUMAN Homo sapiens KRR1, small subunit (SSU) processome component, homolog (yeast) (KRR1), mRNA. 68 rRNA processing nucleolus|ribonucleoprotein complex RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1) 11 AGTAAGCTTCCCTGTATTTTG 0.413000 13 60 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139751442 139751442 + Missense_Mutation SNP G G A TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr9:139751442G>A uc004cjs.3 + 15 1971 c.1921G>A c.(1921-1923)Gca>Aca p.A641T MAMDC4_uc011mej.2_5'UTR NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN Homo sapiens MAM domain containing 4 (MAMDC4), mRNA. 720 MAM 3. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) GGTGCCAGCAGCACCCACGGA 0.687000 3 62 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e 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) 83 128 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112811016 112811033 + In_Frame_Del DEL CCCCCGGAGTCTCCTGGA CCCCCGGAGTCTCCTGGA - rs72207945 TCGA-FY-A3R9-01A-11D-A21Z-08 TCGA-FY-A3R9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef90ac4-d4c5-4753-80e8-712e3100edba cee94f7e-8203-4b02-aebb-507bd48f890e g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA uc011lwi.2 + 0 139_156 c.37_54delCCCCCGGAGTCTCCTGGA c.(37-54)cccccggagtctcctggadel p.PPESPG19del PALM2-AKAP2_uc004bei.2_Intron|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron|PALM2-AKAP2_uc004bem.3_In_Frame_Del_p.PPESPG19del NM_001198656 NP_001185585 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 3, mRNA. 373 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGT 0.789 3 5 --- --- --- ---