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 DNAH8 1769 broad.mit.edu 37 6 38854566 38854566 + Splice_Site SNP G G C TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr6:38854566G>C uc021yzh.1 + 57 8369 c.8260_splice c.e57-1 p.I2754_splice DNAH8_uc003ooe.2_Splice_Site_p.I2537_splice NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGAAATTTCAGATAACTAATG 0.338000 7 90 0 0 1 0 0 UBR3 130507 broad.mit.edu 37 2 170843170 170843170 + Missense_Mutation SNP A A T TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr2:170843170A>T uc010zdi.2 + 24 3650 c.3650A>T c.(3649-3651)gAt>gTt p.D1217V UBR3_uc002ufr.4_Intron|UBR3_uc010fqa.3_Missense_Mutation_p.D38V|UBR3_uc002uft.4_Missense_Mutation_p.D70V NM_172070 NP_742067 Q6ZT12 UBR3_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA. 1217 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 CCTGAGAATGATATTCCTATG 0.418000 5 54 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155168008 155168008 + Missense_Mutation SNP T T C TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr1:155168008T>C uc001fix.3 - 17 2183 c.2078A>G c.(2077-2079)aAt>aGt p.N693S THBS3_uc021pat.1_Missense_Mutation_p.N90S|THBS3_uc010pfu.2_Missense_Mutation_p.N573S|THBS3_uc009wqi.3_Missense_Mutation_p.N684S|THBS3_uc001fiy.3_Missense_Mutation_p.N222S|THBS3_uc010pfv.2_Non-coding_Transcript NM_007112 NP_009043 P49746 TSP3_HUMAN Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA. 693 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ACCAACGCCATTGCCTGGGCA 0.537000 37 72 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1828209 1828209 + Silent SNP T T C TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr19:1828209T>C uc002lua.4 - 1 674 c.579A>G c.(577-579)ggA>ggG p.G193G REXO1_uc010dsr.1_Silent_p.G147G NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA. 193 Poly-Gly. nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|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) CGCCACCCCCTCCACCTCTGC 0.706000 2 21 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31600669 31600669 + Missense_Mutation SNP A A G TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr12:31600669A>G uc001rkh.1 - 7 1920 c.1769T>C c.(1768-1770)cTg>cCg p.L590P DENND5B_uc001rki.1_Missense_Mutation_p.L555P|DENND5B_uc001rkj.3_Missense_Mutation_p.L577P NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA. 555 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AAGAAATGGCAGGTAAGGCTC 0.403000 2 13 0 0 1 0 0 TMX3 54495 broad.mit.edu 37 18 66367682 66367682 + Missense_Mutation SNP T T C TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr18:66367682T>C uc002lkf.3 - 5 487 c.352A>G c.(352-354)Aca>Gca p.T118A TMX3_uc010xez.2_5'UTR|TMX3_uc010xfa.1_Intron|TMX3_uc002lkg.4_Missense_Mutation_p.T118A NM_019022 NP_061895 Q96JJ7 TMX3_HUMAN Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA. 118 Thioredoxin. cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 TCATCTTTTGTTCGTGGTCCT 0.254000 10 105 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224962 26224962 + Silent SNP T T C TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr7:26224962T>C uc003sxq.3 + 3 1916 c.1644T>C c.(1642-1644)ccT>ccC p.P548P NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA. 548 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.I547F(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 TGCATATCCCTTTTTCTGTAG 0.418000 4 79 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123211862 123211862 + Missense_Mutation SNP T T G TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chrX:123211862T>G uc004eua.3 + 26 3133 c.2729T>G c.(2728-2730)aTa>aGa p.I910R STAG2_uc004etz.4_Missense_Mutation_p.I910R|STAG2_uc004eub.3_Missense_Mutation_p.I910R|STAG2_uc004euc.3_Missense_Mutation_p.I910R|STAG2_uc004eud.3_Missense_Mutation_p.I910R|STAG2_uc004eue.3_Missense_Mutation_p.I910R NM_001042749 NP_001036215 Q8N3U4 STAG2_HUMAN Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA. 910 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 ACAAGGCAGATAGACAAAATT 0.313000 38 96 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R 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.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(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) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 69 90 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38187086 38187086 + Missense_Mutation SNP G G A TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr8:38187086G>A uc003xli.3 - 5 1909 c.1391C>T c.(1390-1392)cCg>cTg p.P464L WHSC1L1_uc011lbm.2_Missense_Mutation_p.P464L|WHSC1L1_uc010lwe.3_Missense_Mutation_p.P464L|WHSC1L1_uc003xlj.3_Missense_Mutation_p.P464L NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 464 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TTTAACAGGCGGTGGCTCTTC 0.517000 T NUP98 AML 34 45 0 0 1 0 0 IDNK 414328 broad.mit.edu 37 9 86258573 86258573 + Silent SNP T T C rs138577393 TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr9:86258573T>C uc004amu.2 + 4 496 c.442T>C c.(442-444)Ttg>Ctg p.L148L IDNK_uc004amt.2_Non-coding_Transcript|IDNK_uc010mpv.2_3'UTR NM_001001551 NP_001001551 Q5T6J7 GNTK_HUMAN Homo sapiens chromosome 9 open reading frame 103 (C9orf103), transcript variant 1, mRNA. 148 carbohydrate metabolic process cytoplasm ATP binding|gluconokinase activity|shikimate kinase activity CCCTGAATTATTGCAGTCCCA 0.463000 4 104 0 0 1 0 0 ZNF259 8882 broad.mit.edu 37 11 116656238 116656238 + Missense_Mutation SNP C C A TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr11:116656238C>A uc001ppp.3 - 5 730 c.697G>T c.(697-699)Ggg>Tgg p.G233W NM_003904 NP_003895 O75312 ZPR1_HUMAN Homo sapiens zinc finger protein 259 (ZNF259), mRNA. 233 cell proliferation|signal transduction cytoplasm|nucleolus breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) ACTTGAAGCCCCAGCATCTCT 0.502000 4 122 0 0 1 0 0 OR6V1 346517 broad.mit.edu 37 7 142750057 142750057 + Missense_Mutation SNP G G C TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr7:142750057G>C uc011ksv.2 + 0 620 c.620G>C c.(619-621)aGc>aCc p.S207T NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) TTTGTCCTCAGCTCCTTCCTG 0.542000 4 203 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121877692 121877692 + Missense_Mutation SNP G G T TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr12:121877692G>T uc001uat.3 - 21 3901 c.3797C>A c.(3796-3798)aCc>aAc p.T1266N KDM2B_uc010szy.2_Missense_Mutation_p.T706N|KDM2B_uc001uaq.3_Missense_Mutation_p.T706N|KDM2B_uc001uar.3_Missense_Mutation_p.T857N|KDM2B_uc001uas.3_Missense_Mutation_p.T1197N|KDM2B_uc021rfd.1_Missense_Mutation_p.T1197N|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.T1266N|KDM2B_uc001uao.3_Missense_Mutation_p.T514N|KDM2B_uc010szx.2_Missense_Mutation_p.T514N|KDM2B_uc001uap.3_Non-coding_Transcript NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA. 1266 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GGAGTCTCGGGTGGTGGTGCC 0.572000 15 50 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76101253 76101253 + Splice_Site SNP G G C TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr14:76101253G>C uc001xrs.2 + 5 1397 c.1021_splice c.e5-1 p.G341_splice FLVCR2_uc010tvd.1_Splice_Site_p.G136_splice NM_017791 NP_060261 Q9UPI3 FLVC2_HUMAN Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA. 341 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) GTTTCCCCAGGGGGAAGAAGT 0.527000 3 25 0 0 1 0 0 ZFX 7543 broad.mit.edu 37 X 24228800 24228800 + Silent SNP G G A TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chrX:24228800G>A uc011mjv.2 + 9 2091 c.1842G>A c.(1840-1842)ccG>ccA p.P614P ZFX_uc004dbd.2_Silent_p.P575P|ZFX_uc004dbf.3_Silent_p.P575P|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Silent_p.P575P|ZFX_uc010nfx.2_Silent_p.P346P|ZFX_uc010nfz.3_Silent_p.P231P NM_001178086 NP_001171557 P17010 ZFX_HUMAN Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA. 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 GGGAGAAGCCGTACCAATGCC 0.438000 3 101 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210658442 210658442 + Splice_Site SNP A A G TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr2:210658442A>G uc010zjc.1 + 7 879 c.799_splice c.e7-2 p.G267_splice UNC80_uc021vvx.1_Splice_Site_p.G267_splice|UNC80_uc002vdj.1_Splice_Site_p.G267_splice NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA. 267 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 TGCCTCCAAAAGGGACTCCAG 0.428000 3 63 0 0 1 0 0 TSR1 55720 broad.mit.edu 37 17 2238870 2238870 + Missense_Mutation SNP G G C TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr17:2238870G>C uc002fuj.3 - 2 1313 c.356C>G c.(355-357)aCc>aGc p.T119S SGSM2_uc002fum.4_5'Flank|SGSM2_uc002fun.4_5'Flank|SGSM2_uc010vqw.2_5'Flank NM_018128 NP_060598 Q2NL82 TSR1_HUMAN Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA. 119 ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 AAAGTTCTGGGTGTTTCCCAA 0.483000 3 115 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65365210 65365210 + Silent SNP C C T TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr3:65365210C>T uc003dmn.3 - 16 3247 c.2721G>A c.(2719-2721)gaG>gaA p.E907E MAGI1_uc003dmm.3_Silent_p.E935E|MAGI1_uc003dmo.3_Silent_p.E935E|MAGI1_uc003dmp.3_Silent_p.E907E|MAGI1_uc003dmq.1_Non-coding_Transcript|MAGI1_uc010hnx.1_Silent_p.E218E NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 935 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GCGAGGGCACCTCGTTCTCGG 0.622000 79 141 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 10064433 10064433 + Silent SNP G G A TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr11:10064433G>A uc001mib.2 - 2 375 c.237C>T c.(235-237)taC>taT p.Y79Y SBF2_uc001mif.3_5'UTR NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN Homo sapiens SET binding factor 2 (SBF2), mRNA. 79 UDENN. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) GGCATGAGCAGTAATGTCGAT 0.443000 3 138 0 0 1 0 0 NANOS2 339345 broad.mit.edu 37 19 46417736 46417736 + Silent SNP G G A TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr19:46417736G>A uc002pdu.3 - 0 301 c.216C>T c.(214-216)tcC>tcT p.S72S NM_001029861 NP_001025032 P60321 NANO2_HUMAN Homo sapiens nanos homolog 2 (Drosophila) (NANOS2), mRNA. 72 germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|perinuclear region of cytoplasm RNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 6 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231) AGACGTGGCGGGACTCCCCGT 0.692000 3 82 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127454586 127454586 + Missense_Mutation SNP G G A TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr3:127454586G>A uc003ejv.3 - 0 615 c.116C>T c.(115-117)gCg>gTg p.A39V MGLL_uc003ejw.3_Intron|MGLL_uc011bko.2_Intron|MGLL_uc003ejx.3_Intron|MGLL_uc010hsp.1_Intron NM_001003794 NP_001003794 Q99685 MGLL_HUMAN Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA. 0 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 CTCGCTCCCCGCCTTCTCCCA 0.488000 4 172 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26219630 26219630 + Missense_Mutation SNP G G A TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr22:26219630G>A uc003abz.1 + 12 2930 c.2680G>A c.(2680-2682)Gag>Aag p.E894K MYO18B_uc003aca.1_Missense_Mutation_p.E775K|MYO18B_uc010guy.1_Missense_Mutation_p.E775K|MYO18B_uc010guz.1_Missense_Mutation_p.E775K|MYO18B_uc011aka.1_Missense_Mutation_p.E48K|MYO18B_uc011akb.1_Missense_Mutation_p.E407K NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 894 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCTCGAGGATGAGGAAACCAG 0.562000 4 135 0 0 1 0 0 KRTAP8-1 337879 broad.mit.edu 37 21 32185391 32185391 + Missense_Mutation SNP C C T TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr21:32185391C>T uc002you.3 - 0 180 c.148G>A c.(148-150)Ggg>Agg p.G50R NM_175857 NP_787053 Q8IUC2 KRA81_HUMAN Homo sapiens keratin associated protein 8-1 (KRTAP8-1), mRNA. 50 12 X 2 AA repeats of G-[YCGS]. intermediate filament p.G50V(2) central_nervous_system(1)|large_intestine(1)|lung(4) 6 CCGAAAGCCCCACAGCCGTTG 0.567000 8 160 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23858160 23858160 + Silent SNP G G A TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr14:23858160G>A uc001wjv.3 - 28 4154 c.4083C>T c.(4081-4083)cgC>cgT p.R1361R MIR208A_uc010tnn.2_5'Flank NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 1361 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.R1361R(2) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGGACAGGACGCGCTGCAGCT 0.647000 4 88 0 0 1 0 0 X97876 0 broad.mit.edu 37 9 66499659 66499659 + Missense_Mutation SNP A A G TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr9:66499659A>G uc004aee.1 + 0 469 c.469A>G c.(469-471)Acc>Gcc p.T157A X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). GCTGCGTACCACCAGCCACTG 0.587000 4 18 0 0 1 0 0 LOC285501 285501 broad.mit.edu 37 4 178897099 178897099 + Splice_Site SNP T T C TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr4:178897099T>C uc010iru.3 + 5 c.762_splice c.e5+2 Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA. all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236) all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884) AAATGCCAGGTGAGTATGCAA 0.368000 8 152 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37001181 37001181 + Splice_Site SNP G G A TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr5:37001181G>A uc003jkl.4 + 14 4163 c.3664_splice c.e14+1 p.G1222_splice NIPBL_uc003jkk.4_Splice_Site_p.G1222_splice NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. 1222 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ACTGCGTTTGGTAAAATCAAC 0.333000 33 45 0 0 1 0 0 HSPA2 3306 broad.mit.edu 37 14 65008100 65008100 + Missense_Mutation SNP C C A TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr14:65008100C>A uc001xhj.3 + 1 609 c.533C>A c.(532-534)aCg>aAg p.T178K HSPA2_uc001xhk.4_Missense_Mutation_p.T178K NM_021979 NP_068814 P54652 HSP72_HUMAN Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA. 178 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) AACGAGCCCACGGCGGCGGCC 0.642000 3 84 0 0 1 0 0 FCN2 2220 broad.mit.edu 37 9 137779025 137779025 + Missense_Mutation SNP A A G TCGA-EL-A3T2-01A-11D-A22D-08 TCGA-EL-A3T2-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2155c3ec-aa6e-41bf-9092-94b89ba47845 38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea g.chr9:137779025A>G uc004cfg.1 + 7 716 c.706A>G c.(706-708)Acg>Gcg p.T236A FCN2_uc004cfh.1_Missense_Mutation_p.T198A NM_004108 NP_004099 Q15485 FCN2_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA. 236 Fibrinogen C-terminal. T -> M (in dbSNP:rs17549193). complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) AGATTCCCTGACGTTCCACAA 0.468000 8 113 0 0 1 0 0