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 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + 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.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 4 77 0 0 1 0 0 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 ENST00000359357.3 + 55 7862 c.e55-1 DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site dynein, axonemal, heavy chain 8 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 ENST00000272793.5 + 25 3700 c.3650A>T c.(3649-3651)gAt>gTt p.D1217V UBR3_ENST00000418381.1_Missense_Mutation_p.D1217V|UBR3_ENST00000392631.1_Missense_Mutation_p.D38V Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 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 ENST00000368378.3 - 18 2098 c.2078A>G c.(2077-2079)aAt>aGt p.N693S THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.N573S|THBS3_ENST00000428962.2_3'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.N90S|THBS3_ENST00000541990.1_Missense_Mutation_p.N222S NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 693 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 GBE1 2632 broad.mit.edu 37 3 81699052 81699052 + 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.chr3:81699052G>A ENST00000429644.2 - 4 1093 c.450C>T c.(448-450)agC>agT p.S150S GBE1_ENST00000489715.1_Silent_p.S109S NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 150 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) AGATCTCTCCGCTTTTACTAG 0.368000 Glycogen Storage Disease, type IV 3 39 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 ENST00000170168.4 - 2 673 c.579A>G c.(577-579)ggA>ggG p.G193G REXO1_ENST00000587524.1_5'UTR NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 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 KRTAP8-1 0 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 ENST00000329621.4 - 1 179 c.148G>A c.(148-150)Ggg>Agg p.G50R NM_175857.3 NP_787053.1 Q8IUC2 KRA81_HUMAN keratin associated protein 8-1 50 12 X 2 AA repeats of G-[YCGS]. intermediate filament central_nervous_system(1)|large_intestine(1)|lung(4) 6 CCGAAAGCCCCACAGCCGTTG 0.567000 8 160 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 ENST00000389082.5 - 6 1928 c.1664T>C c.(1663-1665)cTg>cCg p.L555P DENND5B_ENST00000536562.1_Missense_Mutation_p.L590P|DENND5B_ENST00000306833.6_Missense_Mutation_p.L590P|DENND5B_ENST00000354285.4_Missense_Mutation_p.L577P NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 555 dDENN. 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 ENST00000299608.2 - 6 668 c.352A>G c.(352-354)Aca>Gca p.T118A TMX3_ENST00000562706.1_Missense_Mutation_p.T118A|TMX3_ENST00000443099.2_Intron NM_019022.3 NP_061895.3 Q96JJ7 TMX3_HUMAN thioredoxin-related transmembrane protein 3 118 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 ENST00000056233.3 + 4 1903 c.1644T>C c.(1642-1644)ccT>ccC p.P548P NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 548 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 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 ENST00000371160.1 + 27 3019 c.2729T>G c.(2728-2730)aTa>aGa p.I910R STAG2_ENST00000218089.9_Missense_Mutation_p.I910R|STAG2_ENST00000371157.3_Missense_Mutation_p.I910R|STAG2_ENST00000371145.3_Missense_Mutation_p.I910R|STAG2_ENST00000354548.5_Missense_Mutation_p.I841R|STAG2_ENST00000371144.3_Missense_Mutation_p.I910R|STAG2_ENST00000469481.1_Intron Q8N3U4 STAG2_HUMAN stromal antigen 2 910 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 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes 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.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 3 87 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 ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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 ENST00000317025.8 - 6 1908 c.1391C>T c.(1390-1392)cCg>cTg p.P464L WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P464L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P464L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P464L NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 464 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 POTEC 388468 broad.mit.edu 37 18 14513734 14513734 + 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.chr18:14513734C>T ENST00000358970.5 - 10 1459 c.1460G>A c.(1459-1461)gGa>gAa p.G487E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 487 p.G487E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTGTGATATTCCAGTGTTCTG 0.323000 4 70 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + 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:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 6 65 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 ENST00000277124.8 + 6 1149 c.304T>C c.(304-306)Ttg>Ctg p.L102L IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000376417.4_3'UTR|IDNK_ENST00000454393.1_Silent_p.L191L|IDNK_ENST00000376419.4_Silent_p.L148L NM_001256915.1 NP_001243844.1 Q5T6J7 GNTK_HUMAN idnK, gluconokinase homolog (E. coli) 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 ENST00000227322.3 - 6 756 c.697G>T c.(697-699)Ggg>Tgg p.G233W NM_003904.3 NP_003895.1 O75312 ZPR1_HUMAN zinc finger protein 259 233 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 0.014758 0.0161308 1 1 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 ENST00000418316.1 + 1 641 c.620G>C c.(619-621)aGc>aCc p.S207T NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 207 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 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 ENST00000238667.4 + 5 1377 c.1020_splice c.e5-1 p.G341_splice FLVCR2_ENST00000539311.1_Splice_Site_p.G136_splice|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Splice_Site_p.G89_splice|FLVCR2_ENST00000555027.1_Splice_Site_p.G56_splice NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 341 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 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + 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.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 5 82 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 ENST00000379177.1 + 11 2152 c.1725G>A c.(1723-1725)ccG>ccA p.P575P ZFX_ENST00000338565.3_Silent_p.P525P|ZFX_ENST00000539115.1_Silent_p.P346P|ZFX_ENST00000379188.3_Silent_p.P575P|ZFX_ENST00000540034.1_Silent_p.P614P|ZFX_ENST00000304543.5_Silent_p.P575P NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 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 ENST00000439458.1 + 7 878 c.e7-1 UNC80_ENST00000478701.1_Splice_Site|UNC80_ENST00000272845.5_Splice_Site NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 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 ENST00000301364.4 - 3 1435 c.356C>G c.(355-357)aCc>aGc p.T119S NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 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 ENST00000330909.8 - 18 2804 c.2805G>A c.(2803-2805)gaG>gaA p.E935E MAGI1_ENST00000402939.2_Silent_p.E907E|MAGI1_ENST00000483466.1_Silent_p.E935E|MAGI1_ENST00000497477.2_Silent_p.E907E NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 935 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 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 ENST00000341294.2 - 1 300 c.216C>T c.(214-216)tcC>tcT p.S72S NM_001029861.2 NP_001025032.1 P60321 NANO2_HUMAN nanos homolog 2 (Drosophila) 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 ENST00000398101.3 - 1 614 c.116C>T c.(115-117)gCg>gTg p.A39V MGLL_ENST00000265052.5_Intron|MGLL_ENST00000453507.2_Intron|MGLL_ENST00000434178.2_Intron|MGLL_ENST00000398104.1_Intron Q99685 MGLL_HUMAN monoglyceride lipase 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 ENST00000335473.7 + 13 2930 c.2680G>A c.(2680-2682)Gag>Aag p.E894K MYO18B_ENST00000407587.2_Missense_Mutation_p.E894K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E894K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 894 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP 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 CEP170B 283638 broad.mit.edu 37 14 105353277 105353277 + 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.chr14:105353277G>A ENST00000453495.1 + 12 2932 c.2704G>A c.(2704-2706)Gca>Aca p.A902T CEP170B_ENST00000556508.1_Missense_Mutation_p.A831T|CEP170B_ENST00000418279.1_Missense_Mutation_p.A831T|CEP170B_ENST00000414716.3_Missense_Mutation_p.A901T centrosomal protein 170B TACCCGGGCCGCACGCATGGA 0.662000 3 65 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 ENST00000405093.3 - 29 4153 c.4083C>T c.(4081-4083)cgC>cgT p.R1361R MYH6_ENST00000356287.3_Silent_p.R1361R NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 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 actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.R1361R(1) 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 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 ENST00000256190.8 - 3 374 c.237C>T c.(235-237)taC>taT p.Y79Y SBF2_ENST00000527019.1_5'UTR NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 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 NRXN2 9379 broad.mit.edu 37 11 64457918 64457918 + 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.chr11:64457918G>C ENST00000265459.6 - 5 1270 c.809C>G c.(808-810)gCc>gGc p.A270G NRXN2_ENST00000409571.1_Missense_Mutation_p.A270G|NRXN2_ENST00000377551.1_Missense_Mutation_p.A270G|NRXN2_ENST00000377559.3_Intron NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 270 cell adhesion integral to membrane metal ion binding p.A270fs*27(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TCCTCTCCCGGCCCCCCCCTC 0.632000 3 26 0 0 1 0 0 RP11-389E17.1 0 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 ENST00000507870.1 + 5 762 c.e5+2 lung(8)|prostate(1) 9 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 ENST00000282516.8 + 14 4163 c.e14+1 NIPBL_ENST00000448238.2_Splice_Site NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 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 ENST00000247207.6 + 1 915 c.533C>A c.(532-534)aCg>aAg p.T178K HSPA2_ENST00000394709.1_Missense_Mutation_p.T178K|HSPA2_ENST00000554883.1_3'UTR NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 178 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 0.115264 0.123123 1 1 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 ENST00000377069.4 - 21 3996 c.3590C>A c.(3589-3591)aCc>aAc p.T1197N KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.T1266N|KDM2B_ENST00000542973.1_Missense_Mutation_p.T634N NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 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 2.89027e-11 3.23435e-11 1 1 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 ENST00000350339.2 + 7 606 c.592A>G c.(592-594)Acg>Gcg p.T198A FCN2_ENST00000291744.6_Missense_Mutation_p.T236A NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 236 Fibrinogen C-terminal. 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 BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T 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.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 7 110 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - 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.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 7 366 --- --- --- --- WNT6 7475 broad.mit.edu 37 2 219724790 219724792 + In_Frame_Del DEL GCT GCT - 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.chr2:219724790_219724792delGCT ENST00000233948.3 + 1 247_249 c.30_32delGCT c.(28-33)ggg>gg p.GL10del WNT6_ENST00000486233.1_3'UTR NM_006522.3 NP_006513.1 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, member 6 10 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity p.L17delL(1) large_intestine(1)|ovary(2)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCGCCTCGGGCTGCTGCTGCTG 0.773 2 4 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - 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.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 7 190 --- --- --- --- PCSK5 5125 broad.mit.edu 37 9 78790207 78790208 + Frame_Shift_Ins INS - - GAATA rs55947300 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.chr9:78790207_78790208insGAATA ENST00000376767.3 + 14 2574_2575 c.2062_2063insGAATA c.(2062-2064)aatfs p.N688fs PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 cgaatcgaatcgaatagaatag 0.342 3 3 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - 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.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 7 338 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77356311 77356311 + Frame_Shift_Del DEL A 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.chr16:77356311delA ENST00000282849.5 - 14 2503 c.2085delT c.(2083-2085)ttfs p.F695fs NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 695 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A696fs*18(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGGACATTGCAAAAAAAAATT 0.403 7 130 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67125767 67125767 + Frame_Shift_Del DEL A 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.chr17:67125767delA ENST00000284425.2 - 7 1091 c.917delT c.(916-918)tafs p.L306fs NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 306 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TAAGCCATATAAAAAAAAGAG 0.308 7 105 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20663034 20663034 + RNA DEL G 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.chr19:20663034delG ENST00000598131.1 + 0 256 agcttcttttgtccagctgct 0.537 3 6 --- --- --- ---