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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 12 447 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21599227 21599227 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:21599227G>A ENST00000328843.6 + 4 730 c.699G>A c.(697-699)ccG>ccA p.P233P DNAH11_ENST00000409508.3_Silent_p.P233P Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 233 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTAGGCCACCGTCAAACGAAA 0.308000 Kartagener syndrome 28 192 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839374 62839374 + Silent SNP A A G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr20:62839374A>G ENST00000536311.1 + 7 1189 c.825A>G c.(823-825)gaA>gaG p.E275E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E275E Q01538 MYT1_HUMAN myelin transcription factor 1 275 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D274_E275delDE(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggatgaagaagaggaag 0.572000 3 62 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974704 21974704 + Silent SNP C C A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:21974704C>A ENST00000304494.5 - 1 393 c.123G>T c.(121-123)ccG>ccT p.P41P CDKN2A_ENST00000446177.1_Silent_p.P41P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Silent_p.P41P|CDKN2A_ENST00000498124.1_Silent_p.P41P|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 41 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGTAACTATTCGGTGCGTTGG 0.697000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 285 190 5.25247e-111 5.89803e-111 1 1 0 L1CAM 3897 broad.mit.edu 37 X 153138054 153138054 + Missense_Mutation SNP C C G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:153138054C>G ENST00000370060.1 - 4 379 c.190G>C c.(190-192)Gaa>Caa p.E64Q L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 64 Ig-like C2-type 1. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACTGCACTTCGGGCTTGCCA 0.602000 67 158 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864001 52864001 + RNA SNP A A G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:52864001A>G ENST00000451298.1 - 0 168 RP11-64P12.8_ENST00000606031.1_RNA GAAAAAATAAAGCAATAGCTA 0.313000 4 141 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974782 21974782 + Nonsense_Mutation SNP C C T rs138677674 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:21974782C>T ENST00000304494.5 - 1 315 c.45G>A c.(43-45)tgG>tgA p.W15* CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W15*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 15 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.W15*(3)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCGTGGCCAGCCAGTCAGCCG 0.756000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 122 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 14 437 0.000308642 0.000316515 1 1 0 RBM27 54439 broad.mit.edu 37 5 145651191 145651191 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr5:145651191G>A ENST00000265271.5 + 19 3108 c.2942G>A c.(2941-2943)gGa>gAa p.G981E RBM27_ENST00000506502.1_Missense_Mutation_p.G926E NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 981 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTAACAGTTGGAGGATTCATT 0.443000 56 173 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118284525 118284525 + Silent SNP C C A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:118284525C>A ENST00000402510.2 - 1 17 c.18G>T c.(16-18)acG>acT p.T6T NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 6 p.T6T(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AGCCTCGAGGCGTCCAGCCGG 0.652000 118 84 3.25069e-62 3.62994e-62 1 1 0 TDG 6996 broad.mit.edu 37 12 104377099 104377099 + Missense_Mutation SNP G G T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:104377099G>T ENST00000392872.3 + 7 958 c.724G>T c.(724-726)Gtt>Ttt p.V242F TDG_ENST00000266775.9_Missense_Mutation_p.V238F|TDG_ENST00000544861.1_Missense_Mutation_p.V99F|TDG_ENST00000542036.1_Missense_Mutation_p.V38F NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 242 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) TAGTAAAGAAGTTTTTGGAGT 0.284000 Base excision repair (BER), DNA glycosylases 15 573 1.02788e-11 1.0817e-11 1 1 0 KIR3DX1 0 broad.mit.edu 37 19 55048290 55048290 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:55048290C>T ENST00000335056.3 + 5 895 c.857C>T c.(856-858)aCg>aTg p.T286M KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) GGCCGTGCAACGCCAGTCCCT 0.562000 172 613 0 0 1 0 0 HMGN2P46 0 broad.mit.edu 37 15 45848224 45848224 + RNA SNP G G T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:45848224G>T ENST00000409454.1 + 0 1219 TGCAGATTTTGTTTAGCTTTT 0.318000 17 83 1.50538e-07 1.57595e-07 1 1 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 15 100 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 7 1002 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54184132 54184132 + Missense_Mutation SNP G G T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:54184132G>T ENST00000375180.2 - 3 1075 c.1019C>A c.(1018-1020)gCa>gAa p.A340E FAM120C_ENST00000328235.4_Missense_Mutation_p.A340E NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 340 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CTTAAGTGATGCAAGAGGATG 0.388000 18 26 9.7654e-05 0.000100659 1 1 0 THSD7B 80731 broad.mit.edu 37 2 138400061 138400061 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:138400061G>A ENST00000409968.1 + 21 3981 c.3803G>A c.(3802-3804)cGa>cAa p.R1268Q THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATTTTAGGTCGAATGAGCCGG 0.478000 175 340 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 11 474 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32155509 32155509 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:32155509T>A ENST00000375050.4 - 5 1055 c.785A>T c.(784-786)tAt>tTt p.Y262F NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 262 transcription factor binding p.Y262F(3) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GGAGTAGAAATACTCATTTAG 0.517000 5 80 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120575585 120575585 + Missense_Mutation SNP C C T rs115993320 by1000genomes TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:120575585C>T ENST00000300648.6 - 49 6439 c.6427G>A c.(6427-6429)Gta>Ata p.V2143I NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2143 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCATCCTCTACGGAGAGGATC 0.582000 27 91 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664639 22664639 + RNA SNP G G A rs9306349 by1000genomes TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:22664639G>A ENST00000426066.1 + 0 820 NR_027293.1 CCAGCCTTCTGTAACCCAGTA 0.428000 5 167 0 0 1 0 0 TEX19 400629 broad.mit.edu 37 17 80320465 80320465 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:80320465T>C ENST00000333437.4 + 2 749 c.439T>C c.(439-441)Tgg>Cgg p.W147R NM_207459.3 NP_997342.1 Q8NA77 TEX19_HUMAN testis expressed 19 147 nucleus breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 GGGTCTTCCCTGGAGATTTGA 0.597000 85 393 0 0 1 0 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:35906559A>C ENST00000354323.2 + 1 371 c.275A>C c.(274-276)cAc>cCc p.H92P NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane p.H92P(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 12 51 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43937444 43937444 + Missense_Mutation SNP G G T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:43937444G>T ENST00000282406.4 + 13 2299 c.2189G>T c.(2188-2190)gGt>gTt p.G730V NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 730 PH 1. G -> C (in Ref. 1; CAI46132). cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTTAAAGGTGGTGAATTACTT 0.363000 176 404 7.56309e-61 8.3988e-61 1 1 0 ZSCAN10 84891 broad.mit.edu 37 16 3140385 3140385 + Silent SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:3140385C>T ENST00000252463.2 - 5 972 c.885G>A c.(883-885)gcG>gcA p.A295A ZSCAN10_ENST00000538082.2_Silent_p.A213A|ZSCAN10_ENST00000575108.1_5'UTR NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 295 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CCCCGCAGTCCGCGCAGATGA 0.632000 93 346 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540781 133540781 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:133540781G>A ENST00000409261.1 - 14 3976 c.3603C>T c.(3601-3603)atC>atT p.I1201I NCKAP5_ENST00000317721.6_Silent_p.I1201I|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1201 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CACCCGCTGTGATCTCCATGC 0.478000 39 276 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50044493 50044493 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:50044493G>A ENST00000335154.5 - 17 2199 c.1966C>T c.(1966-1968)Cgc>Tgc p.R656C FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C|FMNL3_ENST00000293590.5_Missense_Mutation_p.R656C|FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 656 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 TCAGCCGAGCGGCCAGCCTTG 0.582000 50 251 0 0 1 0 0 ZNF37BP 0 broad.mit.edu 37 10 43019068 43019068 + RNA SNP A A G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr10:43019068A>G ENST00000473592.1 - 0 2491 ACCTACTGAGACAAGGTGGCT 0.438000 64 296 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276064 186276064 + Missense_Mutation SNP G G T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:186276064G>T ENST00000445192.2 + 7 1258 c.1213G>T c.(1213-1215)Gca>Tca p.A405S PRG4_ENST00000367485.4_Missense_Mutation_p.A312S|PRG4_ENST00000367483.4_Missense_Mutation_p.A364S|PRG4_ENST00000367486.3_Missense_Mutation_p.A362S|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 405 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTGCACCCACCAC 0.657000 6 607 7.48243e-07 7.79258e-07 1 1 0 TCHH 7062 broad.mit.edu 37 1 152082320 152082320 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:152082320T>C ENST00000368804.1 - 2 3372 c.3373A>G c.(3373-3375)Aga>Gga p.R1125G NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1125 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) cgttcctctctcagcagctgc 0.612000 6 969 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16877170 16877170 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr10:16877170G>A ENST00000377833.4 - 64 10270 c.10205C>T c.(10204-10206)gCa>gTa p.A3402V NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3402 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTTGCCAAATGCCTTGTGATA 0.438000 88 366 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 8 369 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846121 18846121 + RNA SNP C C T rs4302302 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:18846121C>T ENST00000412938.1 + 0 3479 CACGCACTGGCGCACGATGTA 0.617000 5 165 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1645335 1645335 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:1645335C>T ENST00000421627.2 + 11 2713 c.2579C>T c.(2578-2580)cCg>cTg p.P860L NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 939 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ATGCCGAGGCCGACGTCGCAG 0.667000 22 80 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107332226 107332226 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:107332226G>A ENST00000335040.1 + 1 778 c.778G>A c.(778-780)Gca>Aca p.A260T NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CTTCATGTACGCAAAGCCTGA 0.458000 5 302 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4228226 4228226 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr4:4228226G>A ENST00000296358.4 - 1 390 c.366C>T c.(364-366)cgC>cgT p.R122R NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 122 biomineral tissue development extracellular space|integral to membrane p.R122R(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGTCCTTGAGGCGGAAGAGGC 0.716000 5 46 0 0 1 0 0 OBP2B 29989 broad.mit.edu 37 9 136081795 136081795 + Missense_Mutation SNP A A G rs1132279 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:136081795A>G ENST00000372034.3 - 5 438 c.397T>C c.(397-399)Tct>Cct p.S133P OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B 133 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity p.S133P(2) central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) TTGGTATCAGAATTCCTACCT 0.612000 9 304 0 0 1 0 0 ALCAM 214 broad.mit.edu 37 3 105290748 105290748 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:105290748A>G ENST00000306107.5 + 15 2217 c.1717A>G c.(1717-1719)Aag>Gag p.K573E ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E|ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E|ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 573 cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 AGAAAACAAAAAGTTAGAAGA 0.353000 72 333 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32493062 32493062 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr21:32493062G>A ENST00000286827.3 - 29 4871 c.4400C>T c.(4399-4401)cCg>cTg p.P1467L TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1467 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CTCTTTCTCCGGGCTGCTTGC 0.577000 55 281 0 0 1 0 0 XRCC3 7517 broad.mit.edu 37 14 104169592 104169592 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:104169592C>T ENST00000553264.1 - 5 1275 c.479G>A c.(478-480)cGg>cAg p.R160Q XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q O43542 XRCC3_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 3 160 DNA recombination|DNA repair mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) AGTGCGCAGCCGCGGCTGCTG 0.622000 Direct reversal of damage;Homologous recombination 5 33 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 6 259 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65226641 65226641 + RNA SNP G G T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:65226641G>T ENST00000442266.1 + 0 1167 AGGTTCTTGCGCAGAATTCTG 0.383000 4 260 0.150653 0.150653 1 1 0 NBPF3 84224 broad.mit.edu 37 1 21806573 21806573 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:21806573A>G ENST00000318220.6 + 14 2118 c.1070A>G c.(1069-1071)gAg>gGg p.E357G NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 413 NBPF 2. cytoplasm p.E413G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GATGAGAAAGAGCCTGAAGTC 0.463000 5 409 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73786204 73786204 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:73786204G>A ENST00000264448.6 + 15 10427 c.10316G>A c.(10315-10317)aGg>aAg p.R3439K ALMS1_ENST00000409009.1_Missense_Mutation_p.R3397K NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3439 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GAGATCCATAGGAAGAAGACA 0.463000 33 209 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52672018 52672018 + Splice_Site SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:52672018C>T ENST00000399231.3 - 17 2343 c.e17+1 MYO5A_ENST00000399233.2_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GCCAGGCTCACCGTGAGGGGA 0.453000 82 485 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36595176 36595176 + Nonsense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:36595176C>T ENST00000299440.5 + 2 434 c.322C>T c.(322-324)Cga>Tga p.R108* NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 108 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) AGCCAACCTTCGACATCTCTG 0.463000 Familial Hemophagocytic Lymphohistiocytosis 172 256 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73677777 73677777 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:73677777A>G ENST00000264448.6 + 8 4231 c.4120A>G c.(4120-4122)Act>Gct p.T1374A ALMS1_ENST00000409009.1_Missense_Mutation_p.T1332A|ALMS1_ENST00000377715.1_Missense_Mutation_p.T1374A NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1374 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.T1374A(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGGCACACCAACTGTAACCTC 0.443000 5 563 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 8 492 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 86 114 0 0 1 0 0 TCP10 6953 broad.mit.edu 37 6 167796320 167796320 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:167796320G>A ENST00000366827.2 - 2 253 c.42C>T c.(40-42)gaC>gaT p.D14D TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D Q12799 TCP10_HUMAN t-complex 10 41 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CGGCATTGCTGTCCTCCCTGG 0.652000 5 107 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 9 191 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 7 525 0 0 1 0 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403563 143403563 + RNA SNP C C A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:143403563C>A ENST00000423249.1 - 0 59 TTTCTTTGGCCACTTTGGCTG 0.453000 4 75 0.0215528 0.0216605 1 1 0 OTOF 9381 broad.mit.edu 37 2 26689975 26689975 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:26689975G>A ENST00000272371.2 - 35 4480 c.4354C>T c.(4354-4356)Cgc>Tgc p.R1452C OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1452 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTTGAAGCGTCCCACAATG 0.642000 31 211 0 0 1 0 0 GNPAT 8443 broad.mit.edu 37 1 231396259 231396259 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:231396259A>G ENST00000366647.4 + 3 437 c.268A>G c.(268-270)Aag>Gag p.K90E GNPAT_ENST00000366646.3_Missense_Mutation_p.K29E NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 90 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TTAGCTTTCCAAGGAATCCCT 0.403000 11 1181 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14262129 14262129 + Silent SNP A A C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:14262129A>C ENST00000340736.6 - 24 4278 c.3981T>G c.(3979-3981)ggT>ggG p.G1327G CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1327 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCCGGTCAGCACCCCCGGGCC 0.716000 11 54 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131593364 131593364 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:131593364G>A ENST00000261654.5 + 18 2542 c.1983G>A c.(1981-1983)gtG>gtA p.V661V GPR133_ENST00000535015.1_Silent_p.V693V|GPR133_ENST00000376682.4_Silent_p.V347V|GPR133_ENST00000543617.1_Silent_p.V180V NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 661 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ACAGCATGGTGATCAAGGTCT 0.612000 303 227 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10465247 10465247 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:10465247T>C ENST00000382483.3 - 4 6584 c.6361A>G c.(6361-6363)Act>Gct p.T2121A NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2121 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCCCCTTCAGTCTCTGGGGCC 0.622000 9 994 0 0 1 0 0 SHKBP1 92799 broad.mit.edu 37 19 41083342 41083342 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:41083342G>A ENST00000291842.5 + 3 230 c.181G>A c.(181-183)Gga>Aga p.G61R SHKBP1_ENST00000600733.1_Missense_Mutation_p.G61R NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 61 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGATGAGACCGGAGCAGTGAG 0.607000 5 284 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132649 91132649 + Silent SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:91132649C>T ENST00000373094.1 + 2 2255 c.1410C>T c.(1408-1410)ttC>ttT p.F470F PCDH11X_ENST00000504220.1_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F|PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 470 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CCCAGTCTTTCGTAACTGTTT 0.433000 156 72 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 5 174 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44685548 44685548 + Silent SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr20:44685548C>T ENST00000454036.1 + 24 3268 c.3192C>T c.(3190-3192)aaC>aaT p.N1064N SLC12A5_ENST00000243964.3_Silent_p.N1041N NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 1064 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGTGGGAGAACTTGTAAGTGC 0.493000 59 401 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57187725 57187725 + Missense_Mutation SNP G G T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:57187725G>T ENST00000331162.4 - 5 1667 c.1397C>A c.(1396-1398)aCa>aAa p.T466K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTCTTCACATGTGTAGGGTCT 0.428000 7 529 1.58986e-06 1.64723e-06 1 1 0 ACRC 93953 broad.mit.edu 37 X 70823900 70823900 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:70823900G>A ENST00000373695.1 + 7 1310 c.773G>A c.(772-774)aGc>aAc p.S258N ACRC_ENST00000373696.3_Missense_Mutation_p.S258N Q96QF7 ACRC_HUMAN acidic repeat containing 258 Asp/Ser-rich. nucleus p.S258N(2) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CCCGACGACAGCAGTGATGAT 0.557000 5 291 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774448 89774448 + Silent SNP G G A rs77759231 by1000genomes TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:89774448G>A ENST00000448984.1 + 8 1418 c.1089G>A c.(1087-1089)aaG>aaA p.K363K TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 363 B30.2/SPRY. intracellular zinc ion binding endometrium(3)|kidney(1)|lung(4) 8 TGTATCGGAAGGAGAAGAATC 0.453000 4 148 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143100949 143100949 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:143100949C>T ENST00000316549.6 - 13 1685 c.1477G>A c.(1477-1479)Gtg>Atg p.V493M SLC9A9-AS2_ENST00000490153.1_RNA NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 493 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 TCCAGGTCCACGCCAACTCTG 0.438000 194 657 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130834500 130834500 + Missense_Mutation SNP A A C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:130834500A>C ENST00000245255.3 + 9 1304 c.1032A>C c.(1030-1032)gaA>gaC p.E344D NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 344 PAZ. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GCTTCTTAGAATACTACAGGA 0.408000 47 214 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 9 617 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70257750 70257750 + Nonsense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:70257750C>T ENST00000310961.5 + 5 647 c.229C>T c.(229-231)Cga>Tga p.R77* LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.R72* Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 72 centrosome|focal adhesion|nucleolus protein binding p.R72G(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TCAAGCTCTACGAAAACTAAG 0.294000 97 400 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 10 349 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44102445 44102445 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:44102445C>T ENST00000272286.2 + 11 1739 c.1649C>T c.(1648-1650)gCg>gTg p.A550V NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 550 ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGGCCGCCGCGGCCCTGCTC 0.617000 120 279 0 0 1 0 0 PFKFB4 5210 broad.mit.edu 37 3 48563059 48563059 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:48563059T>A ENST00000232375.3 - 10 1143 c.1031A>T c.(1030-1032)tAt>tTt p.Y344F PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F|PFKFB4_ENST00000490115.1_5'UTR NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 344 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) CTCCAGTGGATAATTATCCTG 0.557000 35 108 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 85961592 85961592 + Missense_Mutation SNP G G A rs150681488 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:85961592G>A ENST00000383699.3 + 6 1226 c.599G>A c.(598-600)cGa>cAa p.R200Q CADM2_ENST00000407528.2_Missense_Mutation_p.R191Q|CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 191 Ig-like C2-type 1. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) CTGGACTTCCGAGTGGACCGG 0.433000 94 193 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 8 596 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103400665 103400665 + Missense_Mutation SNP G G C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:103400665G>C ENST00000358392.2 - 45 3796 c.3479C>G c.(3478-3480)cCt>cGt p.P1160R COL11A1_ENST00000370096.3_Missense_Mutation_p.P1148R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1148 Triple-helical 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) GGGACCGGGAGGGCCCTGCAG 0.448000 32 99 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021899 5021899 + Missense_Mutation SNP C C A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:5021899C>A ENST00000382545.3 + 2 2462 c.1355C>A c.(1354-1356)tCt>tAt p.S452Y KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 452 S -> Y (in Ref. 1; AAA36139). synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATGAGCAAGTCTGAGTACATG 0.483000 180 1115 2.18299e-53 2.41089e-53 1 1 0 TMEM132E 124842 broad.mit.edu 37 17 32953262 32953262 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:32953262C>T ENST00000321639.5 + 2 512 c.184C>T c.(184-186)Cgg>Tgg p.R62W NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 62 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GCGGGAGGCGCGGCCCCCGTC 0.731000 8 39 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393494.2_Silent_p.Q179Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 6 286 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 89016677 89016677 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:89016677G>A ENST00000556564.1 - 2 369 c.85C>T c.(85-87)Ctg>Ttg p.L29L PTPN21_ENST00000328736.3_Silent_p.L29L|PTPN21_ENST00000554628.1_5'UTR NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 29 FERM. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TTATTAAGCAGTTGGATCCGG 0.567000 87 351 0 0 1 0 0 ARL14EP 120534 broad.mit.edu 37 11 30358266 30358266 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:30358266G>A ENST00000282032.3 + 4 922 c.707G>A c.(706-708)cGc>cAc p.R236H NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein GCTGAATGCCGCTGTGACCGC 0.458000 6 623 0 0 1 0 0 NKX2-4 644524 broad.mit.edu 37 20 21376877 21376877 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr20:21376877C>T ENST00000351817.4 - 2 1365 c.737G>A c.(736-738)cGg>cAg p.R246Q NM_033176.1 NP_149416.1 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 246 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 CTTGGCCTGCCGTTTCATCTT 0.711000 12 72 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200539058 200539058 + Missense_Mutation SNP C C G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:200539058C>G ENST00000367350.4 - 23 4080 c.3642G>C c.(3640-3642)ttG>ttC p.L1214F NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1214 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 GTGAAGAATGCAAATTCTTAA 0.338000 5 543 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 12 1495 0 0 1 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057497 46057497 + Missense_Mutation SNP A A G rs377408 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr21:46057497A>G ENST00000380095.1 + 1 225 c.163A>G c.(163-165)Acg>Gcg p.T55A TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 55 15 X 5 AA repeats of C-C-X(3). keratin filament p.T55A(1) NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 CTGCTGCCAGACGGCCTGTGA 0.662000 8 484 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171509737 171509737 + Silent SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:171509737C>T ENST00000367742.3 + 16 3374 c.3132C>T c.(3130-3132)gtC>gtT p.V1044V PRRC2C_ENST00000338920.4_Silent_p.V1042V|PRRC2C_ENST00000392078.3_Silent_p.V1044V|PRRC2C_ENST00000426496.2_Silent_p.V1042V Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1042 protein C-terminus binding CCGAAAAGGTCACTGAAAAAG 0.468000 146 222 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48688878 48688878 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:48688878T>A ENST00000544264.1 - 14 6380 c.6100A>T c.(6100-6102)Agc>Tgc p.S2034C CELSR3_ENST00000164024.4_Missense_Mutation_p.S2034C Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2034 EGF-like 7; calcium-binding. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CAGGTTGGGCTCCCCCACCAG 0.617000 48 212 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 13283751 13283751 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:13283751G>A ENST00000332995.7 + 11 1607 c.1607G>A c.(1606-1608)cGc>cAc p.R536H PHACTR1_ENST00000379335.3_Missense_Mutation_p.R100H|PHACTR1_ENST00000379329.1_Missense_Mutation_p.R100H|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R391H|RP1-257A7.4_ENST00000606150.1_RNA Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 536 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GACTATGACCGCAGGGCAGAT 0.602000 6 430 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111102671 111102671 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:111102671G>A ENST00000360467.5 + 20 1515 c.1209G>A c.(1207-1209)ccG>ccA p.P403P NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 403 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GAGGCCTGCCGGGTGAGATGG 0.632000 136 250 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220312852 220312852 + Silent SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:220312852C>T ENST00000312358.7 + 4 1104 c.972C>T c.(970-972)ccC>ccT p.P324P SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.P220P|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 324 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CGCCGGGACCCCCGGCCCAGC 0.741000 5 58 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12364627 12364627 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:12364627C>T ENST00000358136.3 + 26 6411 c.6281C>T c.(6280-6282)aCg>aTg p.T2094M VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2094 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACGACAAGCACGGAGGAGCCC 0.522000 26 146 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 7 335 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242312551 242312551 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:242312551T>A ENST00000264042.3 + 2 199 c.29T>A c.(28-30)gTc>gAc p.V10D FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000545004.1_Missense_Mutation_p.V10D|FARP2_ENST00000373287.4_Missense_Mutation_p.V10D NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 10 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) ACATACAGAGTCCTGCAGACT 0.463000 112 205 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 6 197 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823870 70823870 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:70823870G>A ENST00000373695.1 + 7 1280 c.743G>A c.(742-744)aGc>aAc p.S248N ACRC_ENST00000373696.3_Missense_Mutation_p.S248N Q96QF7 ACRC_HUMAN acidic repeat containing 248 Asp/Ser-rich. nucleus p.S248N(1) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CCCGACGACAGCAGTGATGAT 0.552000 5 417 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11464363 11464363 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:11464363G>A ENST00000423059.3 - 16 3594 c.3343C>T c.(3343-3345)Cgg>Tgg p.R1115W AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1115 TSP type-1 11. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CAGTTCTCCCGCATATTCACA 0.478000 HNSCC(18;0.044) 9 1393 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 7 608 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254021 39254021 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:39254021C>T ENST00000333822.4 - 1 372 c.316G>A c.(316-318)Gtg>Atg p.V106M NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 106 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 cagctggacacacagcagctg 0.672000 5 206 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 6 603 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 4 112 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101802811 101802811 + Silent SNP C C T rs146647282 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:101802811C>T ENST00000375001.3 + 23 2907 c.2484C>T c.(2482-2484)gaC>gaT p.D828D NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 828 Triple-helical region 4 (COL4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) AGGGGCCGGACGGGTTGCCTG 0.587000 212 206 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2742Q(2) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacagcagcagcagc 0.597000 12 204 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21806606 21806606 + Missense_Mutation SNP T T G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:21806606T>G ENST00000318220.6 + 14 2151 c.1103T>G c.(1102-1104)tTt>tGt p.F368C NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 424 NBPF 2. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTGGATAGATTTTATTCAACT 0.468000 6 414 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70541973 70541973 + Missense_Mutation SNP C C A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:70541973C>A ENST00000310961.5 + 24 4622 c.4204C>A c.(4204-4206)Cca>Aca p.P1402T LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1444T Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1444 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GGATGGATATCCAGAGCAGGT 0.463000 58 199 1.17673e-23 1.27163e-23 1 1 0 ZNF407 55628 broad.mit.edu 37 18 72346823 72346823 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr18:72346823A>G ENST00000299687.5 + 1 3848 c.3848A>G c.(3847-3849)aAc>aGc p.N1283S ZNF407_ENST00000309902.6_Missense_Mutation_p.N1283S|ZNF407_ENST00000582337.1_Missense_Mutation_p.N1283S|ZNF407_ENST00000577538.1_Missense_Mutation_p.N1283S NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGGGGTCAGAACAGAGTTGCA 0.507000 3 62 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145359109 145359109 + Missense_Mutation SNP T T A rs3967942 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:145359109T>A ENST00000342960.5 + 72 9084 c.9049T>A c.(9049-9051)Tgt>Agt p.C3017S NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3017 p.C3017S(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TCTTGAACTGTGTGACTCATG 0.483000 6 560 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 4 112 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133119141 133119141 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:133119141C>T ENST00000302334.2 + 1 303 c.214C>T c.(214-216)Cgt>Tgt p.R72C NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 72 Head. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 CTTGGGTGCCCGTGTGACCCG 0.667000 102 301 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153026597 153026597 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr5:153026597G>A ENST00000285900.5 + 3 673 c.330G>A c.(328-330)acG>acA p.T110T GRIA1_ENST00000521843.2_Silent_p.T41T|GRIA1_ENST00000518783.1_Silent_p.T120T|GRIA1_ENST00000448073.4_Silent_p.T120T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000518142.1_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 110 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding p.T110T(2) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCTTCATTACGCCGAGCTTTC 0.498000 108 333 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248403055 248403055 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:248403055G>A ENST00000306687.1 + 1 825 c.825G>A c.(823-825)tcG>tcA p.S275S NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGATGGTGTCGGCCTTCTACA 0.488000 65 385 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46931761 46931761 + Missense_Mutation SNP G G C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:46931761G>C ENST00000262738.3 - 1 1306 c.1307C>G c.(1306-1308)cCg>cGg p.P436R CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 436 Cadherin 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GAGCGGGCCCGGATTGCGCCC 0.667000 38 95 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79403509 79403509 + Missense_Mutation SNP G G T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:79403509G>T ENST00000370742.3 - 6 806 c.743C>A c.(742-744)aCa>aAa p.T248K NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 248 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CGTTGAATTTGTATCAAACTC 0.378000 87 464 6.65942e-36 7.27469e-36 1 1 0 TIAM1 7074 broad.mit.edu 37 21 32589921 32589921 + Missense_Mutation SNP C C A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr21:32589921C>A ENST00000286827.3 - 10 2561 c.2090G>T c.(2089-2091)tGg>tTg p.W697L TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 697 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 ATCCAGACCCCACAGAGAAGA 0.532000 104 424 3.95083e-50 4.33944e-50 1 1 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 6 288 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906577 129906577 + Missense_Mutation SNP G G A rs117795868 by1000genomes TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr10:129906577G>A ENST00000368654.3 - 13 3902 c.3527C>T c.(3526-3528)aCg>aTg p.T1176M MKI67_ENST00000368653.3_Missense_Mutation_p.T816M NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1176 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGGTTTGGGCGTAAGCATGGC 0.463000 7 854 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74287140 74287140 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:74287140C>T ENST00000262765.5 - 4 3349 c.3170G>A c.(3169-3171)gGc>gAc p.G1057D NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1057 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GTCGGTTTGGCCGGCCTGCTC 0.532000 6 497 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97887879 97887879 + Silent SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:97887879T>C ENST00000356526.2 + 1 336 c.336T>C c.(334-336)tgT>tgC p.C112C NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C112C(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CCACAGAATGTTTTCTCTTGG 0.378000 7 1021 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711436 195711436 + RNA SNP C C G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:195711436C>G ENST00000427841.1 - 0 511 NR_003264.2 AACAGACCACCAGAGCACCCA 0.572000 11 223 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135024207 135024207 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr10:135024207G>A ENST00000304613.3 + 21 3908 c.3887G>A c.(3886-3888)cGc>cAc p.R1296H KNDC1_ENST00000368572.2_Missense_Mutation_p.R1298H Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1296 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction p.R1296H(1) NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CTCCTCGACCGCATCAACAGC 0.622000 5 443 0 0 1 0 0 CARF 79800 broad.mit.edu 37 2 203820463 203820463 + Silent SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:203820463C>T ENST00000320443.8 + 7 1667 c.624C>T c.(622-624)tgC>tgT p.C208C CARF_ENST00000545253.1_Silent_p.C120C|CARF_ENST00000545262.1_Silent_p.C132C|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000414439.1_Silent_p.C106C|CARF_ENST00000428585.1_Silent_p.C132C|CARF_ENST00000456821.2_Silent_p.C196C|CARF_ENST00000402905.2_Silent_p.C208C|CARF_ENST00000444724.1_Silent_p.C208C|CARF_ENST00000438828.2_Silent_p.C208C|CARF_ENST00000434998.1_Silent_p.C106C calcium responsive transcription factor TATGGGCCTGCCGTCTTAGGA 0.413000 5 393 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183433028 183433028 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:183433028G>A ENST00000305135.5 + 2 273 c.78G>A c.(76-78)cgG>cgA p.R26R NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 26 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding p.R26R(2) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CAAATAAGCGGCATAAAGCAA 0.398000 6 524 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21556023 21556023 + Silent SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:21556023C>T ENST00000298925.5 + 17 1986 c.1833C>T c.(1831-1833)gaC>gaT p.D611D NELL1_ENST00000325319.5_Silent_p.D526D|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Silent_p.D583D Q92832 NELL1_HUMAN NEL-like 1 (chicken) 583 EGF-like 6; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GTTTCCATGACGATGGGACCT 0.527000 83 280 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100405553 100405553 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:100405553G>A ENST00000262233.6 + 21 2350 c.2211G>A c.(2209-2211)tcG>tcA p.S737S EML1_ENST00000327921.9_Silent_p.S725S|EML1_ENST00000334192.4_Silent_p.S756S NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 737 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) CAGAAGGCTCGGACGGAACCG 0.582000 77 264 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 69 238 2.34191e-24 2.54445e-24 1 1 0 PRR5L 79899 broad.mit.edu 37 11 36472814 36472814 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:36472814T>A ENST00000378867.3 + 9 996 c.641T>A c.(640-642)gTg>gAg p.V214E PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E|PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 214 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 GAGGAGCTGGTGAAGCAAGTG 0.527000 76 335 0 0 1 0 0 TGS1 96764 broad.mit.edu 37 8 56699281 56699281 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:56699281C>T ENST00000260129.5 + 4 1301 c.824C>T c.(823-825)tCt>tTt p.S275F NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 275 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) ACTTACACATCTAAAACAGAA 0.363000 94 415 0 0 1 0 0 MRP63 78988 broad.mit.edu 37 13 21751133 21751133 + Silent SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:21751133C>T ENST00000309594.4 + 2 156 c.78C>T c.(76-78)ttC>ttT p.F26F NM_024026.4 NP_076931.1 Q9BQC6 RT63_HUMAN mitochondrial ribosomal protein 63 26 kidney(1)|lung(2)|skin(1)|urinary_tract(1) 5 all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932) GGCCGCGGTTCGTGTCGTTGC 0.662000 47 295 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 619752 619752 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr4:619752G>A ENST00000255622.6 + 1 380 c.337G>A c.(337-339)Gtg>Atg p.V113M PDE6B_ENST00000496514.1_Missense_Mutation_p.V113M NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 113 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GCTTTTCAGCGTGCAGCCGGA 0.687000 3 27 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 10 1763 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179397543 179397543 + Nonsense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:179397543C>T ENST00000589042.1 - 358 104023 c.103799G>A c.(103798-103800)tGg>tAg p.W34600* TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W32959*|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32959 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAACTGTTCCCATCTTGAAAG 0.428000 76 173 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350298 100350298 + RNA SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:100350298C>T ENST00000542585.1 + 0 2718 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACAGAAAAACCCACCATCCCC 0.498000 7 958 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20787935 20787935 + Missense_Mutation SNP C C A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:20787935C>A ENST00000359062.3 + 8 1986 c.1946C>A c.(1945-1947)cCt>cAt p.P649H PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 649 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTGAGAGAGCCTCTGAGGAAA 0.443000 36 270 2.42023e-17 2.58759e-17 1 1 0 RP11-3P17.4 0 broad.mit.edu 37 3 161147301 161147301 + RNA SNP A A G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:161147301A>G ENST00000473595.1 + 0 1350 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 ACACCTTTCAACACTGCCTTC 0.552000 6 403 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 10 467 0 0 1 0 0 AC005562.1 0 broad.mit.edu 37 17 28961033 28961033 + RNA SNP T T G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:28961033T>G ENST00000417404.1 + 0 1291 SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA AGTTCCAGGATATGACTATAA 0.264000 4 220 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43773549 43773549 + Missense_Mutation SNP C C T rs142118461 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:43773549C>T ENST00000244293.7 - 1 101 c.35G>A c.(34-36)cGc>cAc p.R12H PSG9_ENST00000593948.1_Missense_Mutation_p.R12H|PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000596730.1_Missense_Mutation_p.R12H|PSG9_ENST00000270077.3_Missense_Mutation_p.R12H|PSG9_ENST00000418820.2_Missense_Mutation_p.R12H Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 12 female pregnancy extracellular region p.R12H(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) CCAGGTGATGCGCTGTGTGCA 0.622000 7 783 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 16 547 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 18 197 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974001 49974001 + Silent SNP G G A rs148894043 byFrequency TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:49974001G>A ENST00000555099.1 + 1 59 c.27G>A c.(25-27)gaG>gaA p.E9E NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ATGTGACAGAGTTTATTCTAT 0.299000 104 397 0 0 1 0 0 UBA7 7318 broad.mit.edu 37 3 49842859 49842859 + Missense_Mutation SNP A A T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:49842859A>T ENST00000333486.3 - 24 3079 c.2921T>A c.(2920-2922)cTg>cAg p.L974Q NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 974 ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTGCTGAACCAGTTCTGTCAC 0.617000 100 87 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768459 88768459 + RNA SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr10:88768459C>T ENST00000444431.1 + 0 3059 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding GTTCCAATGGCGTGCTCACCT 0.433000 8 1093 0 0 1 0 0 RCBTB1 55213 broad.mit.edu 37 13 50125491 50125491 + Silent SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:50125491G>A ENST00000378302.2 - 8 1085 c.825C>T c.(823-825)agC>agT p.S275S RCBTB1_ENST00000258646.3_Silent_p.S275S|RCBTB1_ENST00000546015.1_Silent_p.S275S NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 275 cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) TGTGTGCTGGGCTTAGCAGGT 0.522000 11 416 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3129166 3129166 + Nonsense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:3129166C>T ENST00000263650.7 - 8 860 c.701G>A c.(700-702)tGg>tAg p.W234* OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*|OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166* NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 234 PH. cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GGCGTCCAGCCAGCAGCGACC 0.697000 51 60 0 0 1 0 0 IGHV3-43 0 broad.mit.edu 37 14 106926482 106926482 + RNA SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:106926482T>C ENST00000434710.1 - 0 139 CCAGCTGCACTTCACACTGGA 0.527000 7 682 0 0 1 0 0 CXADRP3 0 broad.mit.edu 37 18 14479154 14479154 + RNA SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr18:14479154T>C ENST00000581457.1 - 0 754 NR_024076.1 GCATGGCAGATAGGTAGTTTC 0.488000 35 108 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713239 142713239 + RNA SNP T T A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:142713239T>A ENST00000369381.2 - 0 1366 TCTTCTGCATTTTCATACATC 0.383000 65 171 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974702 21974702 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:21974702T>A ENST00000304494.5 - 1 395 c.125A>T c.(124-126)aAt>aTt p.N42I CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42I|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 42 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)|p.N42T(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) ACCGTAACTATTCGGTGCGTT 0.687000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 301 204 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204214837 204214837 + Silent SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:204214837C>T ENST00000272203.3 - 14 2254 c.1938G>A c.(1936-1938)cgG>cgA p.R646R PLEKHA6_ENST00000414478.1_Silent_p.R666R NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 646 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TTTGGATTTGCCGGTTCAGCA 0.582000 7 621 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 5 73 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57333066 57333066 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:57333066C>T ENST00000326441.9 - 7 985 c.622G>A c.(622-624)Gac>Aac p.D208N ZIM2_ENST00000221722.5_Missense_Mutation_p.D83N|PEG3_ENST00000593695.1_Missense_Mutation_p.D82N|ZIM2_ENST00000593711.1_Missense_Mutation_p.D83N|PEG3_ENST00000423103.2_Missense_Mutation_p.D208N|ZIM2_ENST00000391708.3_Missense_Mutation_p.D83N|PEG3_ENST00000598410.1_Missense_Mutation_p.D83N|ZIM2_ENST00000601070.1_Missense_Mutation_p.D83N|ZIM2_ENST00000599935.1_Missense_Mutation_p.D83N NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 208 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCCTCTCTGTCCATTTCAAAG 0.512000 123 990 0 0 1 0 0 APBB1 322 broad.mit.edu 37 11 6432092 6432092 + Missense_Mutation SNP C C A rs145320037 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:6432092C>A ENST00000389906.2 - 2 585 c.486G>T c.(484-486)gaG>gaT p.E162D APBB1_ENST00000311051.3_Missense_Mutation_p.E162D|APBB1_ENST00000299402.6_Missense_Mutation_p.E162D|APBB1_ENST00000533407.1_Intron NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) catcatcatcctcctcctcct 0.637000 4 143 0.00909568 0.00918709 1 1 0 AC006293.3 0 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 7 359 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544724 23544724 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:23544724T>C ENST00000300619.7 - 4 1262 c.1057A>G c.(1057-1059)Aaa>Gaa p.K353E ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 353 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K353E(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CCACATTCTTTACATTTGTAG 0.373000 6 452 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50119105 50119105 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:50119105C>T ENST00000418929.2 + 9 5138 c.5126C>T c.(5125-5127)aCg>aTg p.T1709M NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 888 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCTGAAAAGACGACATCTGAG 0.642000 14 90 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34856959 34856959 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:34856959G>A ENST00000431794.3 - 22 2719 c.2197C>T c.(2197-2199)Cca>Tca p.P733S MYO19_ENST00000268852.9_Missense_Mutation_p.P533S NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 733 mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ATGGGGGCTGGCATGGCCTCA 0.572000 6 648 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 10 268 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 9 229 --- --- --- --- SRSF4 6429 broad.mit.edu 37 1 29475219 29475221 + In_Frame_Del DEL CTT CTT - rs138237342 by1000genomes TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:29475219_29475221delCTT ENST00000373795.4 - 6 1420_1422 c.1186_1188delAAG c.(1186-1188)del p.K396del SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 396 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CAGTGTCTTCCTTCTTCTTCTTC 0.601 15 478 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 9 944 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 7 526 --- --- --- --- SLC25A24 29957 broad.mit.edu 37 1 108700183 108700183 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:108700183delT ENST00000565488.1 - 5 789 c.570delA c.(568-570)aafs p.K190fs SLC25A24_ENST00000370041.4_Frame_Shift_Del_p.K171fs NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 190 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding p.K171fs*29(1)|p.K190fs*29(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) ATTGTCCGGATTTTTTTTCGT 0.453 9 523 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142699961 142699961 + RNA DEL T T - rs74315780 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:142699961delT ENST00000369381.2 - 0 2077 tatatatatatatatCCAAAA 0.259 3 5 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210024 143210025 + RNA INS - - AA TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:143210024_143210025insAA ENST00000412204.2 - 0 1045_1046 RP11-782C8.1_ENST00000438000.1_lincRNA TCTAGACTGATGATTCAATTTC 0.381 7 277 --- --- --- --- RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 8 83 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 10 88 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 7 1320 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 13 537 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 17 1165 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161044057 161044059 + In_Frame_Del DEL CAC CAC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:161044057_161044059delCAC ENST00000368012.3 - 6 1407_1409 c.1105_1107delGTG c.(1105-1107)del p.V369del PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 369 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGGACATGAGCACCACCACCACC 0.571 10 694 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 15 323 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000420254.3_Intron NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGGCTGCGTCCACCACCACCAC 0.601 11 1208 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 11 651 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954 Gln-rich. snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 12 1332 --- --- --- --- PARP1 142 broad.mit.edu 37 1 226564861 226564861 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:226564861delT ENST00000366794.5 - 13 2032 c.1889delA c.(1888-1890)atfs p.N630fs NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 630 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) CTTCGTGAAATTTTTGGAGTG 0.453 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 7 1618 --- --- --- --- AGT 183 broad.mit.edu 37 1 230839055 230839055 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:230839055delA ENST00000366667.4 - 5 1504 c.1290delT c.(1288-1290)ttfs p.F430fs NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 430 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CTTCAAGCTCAAAAAAAATGC 0.562 9 546 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 9 441 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 8 317 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 9 456 --- --- --- --- PSME4 23198 broad.mit.edu 37 2 54093344 54093345 + Frame_Shift_Ins INS - - T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:54093344_54093345insT ENST00000404125.1 - 46 5468_5469 c.5413_5414insA c.(5413-5415)cttfs p.L1805fs PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1805 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding p.T1691fs*>39(1) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATTGGATAAGGTTTTTTTTACA 0.401 8 805 --- --- --- --- CCDC104 112942 broad.mit.edu 37 2 55772051 55772052 + Frame_Shift_Del DEL AG AG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:55772051_55772052delAG ENST00000349456.4 + 10 1084_1085 c.936_937delAG c.(934-939)acagfs p.TE312fs CCDC104_ENST00000407816.3_Frame_Shift_Del_p.TE283fs|CCDC104_ENST00000339012.3_Frame_Shift_Del_p.TE337fs Q96G28 CC104_HUMAN coiled-coil domain containing 104 312 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AGGAAATGACAGAGAAACCAGA 0.332 28 134 --- --- --- --- OTX1 5013 broad.mit.edu 37 2 63283259 63283261 + In_Frame_Del DEL CCA CCA - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:63283259_63283261delCCA ENST00000366671.3 + 5 1149_1151 c.873_875delCCA c.(871-876)ggc>gg p.GH291del OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 291 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) AGTCCTCAGGccaccaccaccac 0.640 11 462 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 7 513 --- --- --- --- RGPD8 727851 broad.mit.edu 37 2 113181886 113181887 + Splice_Site INS - - A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:113181886_113181887insA ENST00000302558.3 - 2 264 c.e2-2 RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 CATTGACTTCTAAAAAAAAATT 0.252 13 749 --- --- --- --- CSRNP3 80034 broad.mit.edu 37 2 166532950 166532950 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:166532950delA ENST00000314499.7 + 6 913 c.537delA c.(535-537)acfs p.T179fs CSRNP3_ENST00000409420.1_Frame_Shift_Del_p.T211fs|CSRNP3_ENST00000342316.4_Frame_Shift_Del_p.T179fs NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 179 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 CTTTGCCAACAAAAAAACGAA 0.478 7 1556 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168104998 168105000 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:168104998_168105000delCCT ENST00000409195.1 + 9 7185_7187 c.7096_7098delCCT c.(7096-7098)del p.P2370del XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2195 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTTTCTGCCGCCTCCTCCTCCTC 0.468 7 668 --- --- --- --- MLTK 0 broad.mit.edu 37 2 174097115 174097117 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:174097115_174097117delGCT ENST00000375213.3 + 14 1209_1211 c.1131_1133delGCT c.(1129-1134)cgg>cg p.RL377del MLTK_ENST00000409176.2_In_Frame_Del_p.RL377del|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA NM_016653.2 NP_057737.2 CAGGGAAGCGGCTGCTGCTGCTG 0.433 9 1191 --- --- --- --- RBM45 129831 broad.mit.edu 37 2 178988920 178988920 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:178988920delA ENST00000286070.5 + 8 1227 c.1135delA c.(1135-1137)aafs p.K381fs NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 383 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding p.A382fs*7(2)|p.?(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TCCATCATGCAAAAAAAAAGC 0.353 15 619 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - rs140194798 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:196788374delT ENST00000312428.6 - 23 3870 c.3770delA c.(3769-3771)atfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCGCTAATATTTTTTTTTAC 0.418 8 439 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660886 227660886 + Frame_Shift_Del DEL G G - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:227660886delG ENST00000305123.4 - 1 3589 c.2569delC c.(2569-2571)ggfs p.R857fs NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 857 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CTCGTGGGCCGGGCCAGGCGG 0.662 66 363 --- --- --- --- CCL20 6364 broad.mit.edu 37 2 228680168 228680168 + Splice_Site DEL A A - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:228680168delA ENST00000358813.4 + 2 134 c.e2-1 CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000409189.3_Intron P78556 CCL20_HUMAN chemokine (C-C motif) ligand 20 cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction extracellular space chemokine activity cervix(1)|lung(2) 3 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) TTTTTTTTTTAGCAGCAAGCA 0.373 7 661 --- --- --- --- USP40 55230 broad.mit.edu 37 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:234394236_234394237insT ENST00000251722.6 - 30 3558_3559 c.3441_3442insA c.(3439-3444)aaaagafs p.R1148fs USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 1148 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) AAATAATCTTGTTTTTTTTTCT 0.337 7 298 --- --- --- --- KIF1A 547 broad.mit.edu 37 2 241700765 241700776 + In_Frame_Del DEL CCAGCTCACACT CCAGCTCACACT - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:241700765_241700776delCCAGCTCACACT ENST00000498729.2 - 24 2381_2392 c.2135_2146delAGTGTGAGCTGG c.(2134-2148)gcg>g p.ECELA712del KIF1A_ENST00000320389.7_In_Frame_Del_p.ECELA703del NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 703 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GCCCAGAGCGCCAGCTCACACTCCCGCTCTGT 0.632 32 168 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:33602361delT ENST00000399362.4 - 28 3243 c.2890delA c.(2890-2892)tgfs p.M964fs CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 966 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCAGCACCCATTTTTTTTAGT 0.343 8 703 --- --- --- --- PARP3 10039 broad.mit.edu 37 3 51978150 51978152 + In_Frame_Del DEL AAC AAC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:51978150_51978152delAAC ENST00000417220.2 + 4 717_719 c.229_231delAAC c.(229-231)del p.N80del PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 80 N -> K (in Ref. 2; AAD29855). DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CAACATCGAGAACAACAACAACA 0.596 7 922 --- --- --- --- ROBO2 6092 broad.mit.edu 37 3 77657037 77657038 + Frame_Shift_Ins INS - - C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:77657037_77657038insC ENST00000461745.1 + 21 4125_4126 c.3225_3226insC c.(3223-3228)ccccccfs p.PP1075fs ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.PP1091fs|ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.PP1075fs|ROBO2_ENST00000469233.1_3'UTR NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1075 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.V1079fs*22(1)|p.V1095fs*22(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TCCCTCTACCTCCCCCCCCAGT 0.431 7 267 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 10 266 --- --- --- --- GABRR3 200959 broad.mit.edu 37 3 97744540 97744540 + RNA DEL A A - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:97744540delA ENST00000472788.1 - 0 127 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 CCCCAAAGGGAAAAAAAAAAC 0.373 7 125 --- --- --- --- FAM86JP 0 broad.mit.edu 37 3 125647339 125647339 + RNA DEL C C - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:125647339delC ENST00000485843.1 + 0 484 NR_024251.1 TGTTTCCAGGCCAGGCCAGGA 0.557 7 511 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 7 455 --- --- --- --- TRIM59 286827 broad.mit.edu 37 3 160156368 160156368 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:160156368delT ENST00000543469.1 - 2 818 c.604delA c.(604-606)gtfs p.S202fs RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.S202fs|TRIM59_ENST00000309784.4_Frame_Shift_Del_p.S202fs Q8IWR1 TRI59_HUMAN tripartite motif containing 59 202 integral to membrane|intracellular zinc ion binding p.S202fs*3(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTTAGGAAACTTTTTTTTTTC 0.343 21 514 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194147850 194147850 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:194147850delA ENST00000439040.1 - 29 3870 c.3079delT c.(3079-3081)ggfs p.W1027fs ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.W1027fs Q9H7F0 AT133_HUMAN ATPase type 13A3 1027 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TGTTTGACCCAAAAAAAACCC 0.383 7 496 --- --- --- --- TNK2 10188 broad.mit.edu 37 3 195595229 195595229 + Frame_Shift_Del DEL G G - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:195595229delG ENST00000333602.6 - 12 2512 c.1895delC c.(1894-1896)cgfs p.P633fs TNK2_ENST00000392400.1_Frame_Shift_Del_p.P633fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.P711fs|TNK2_ENST00000428187.1_Frame_Shift_Del_p.P665fs NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 633 Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) ATAGGCGGGCGGGGGGGGCAG 0.726 7 392 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 7 648 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 8 376 --- --- --- --- MYO10 4651 broad.mit.edu 37 5 16694605 16694606 + Frame_Shift_Ins INS - - C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr5:16694605_16694606insC ENST00000513610.1 - 27 4128_4129 c.3674_3675insG c.(3673-3675)gtcfs p.V1225fs MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1225 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity p.S1226fs*25(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GCGTGGAGGAGCCCCCCCCTTT 0.564 8 503 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 11 553 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26428451 26428451 + RNA DEL A A - rs139821417 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:26428451delA ENST00000466808.2 + 0 1304 gtgtctaattaaaaaaaaaaa 0.448 3 4 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:29455156_29455157delAC ENST00000377127.3 - 1 581_582 c.523_524delGT c.(523-525)cfs p.V175fs NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGGAAGAGGACACACACACAC 0.495 7 345 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31975223 31975224 + RNA INS - - T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:31975223_31975224insT ENST00000342991.6 + 0 1346_1347 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTGGGCCGTGGTTTTTTTTGCT 0.614 10 693 --- --- --- --- REV3L 5980 broad.mit.edu 37 6 111693903 111693904 + Frame_Shift_Ins INS - - G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:111693903_111693904insG ENST00000435970.1 - 15 6236_6237 c.5420_5421insC c.(5419-5421)cagfs p.Q1807fs REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1885 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTCCCTACTTGGGGGGGACAT 0.431 DNA polymerases (catalytic subunits) 7 908 --- --- --- --- WTAP 9589 broad.mit.edu 37 6 160163179 160163180 + Splice_Site INS - - T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:160163179_160163180insT ENST00000358372.4 + 4 1902 c.e4+1 SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Splice_Site NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) GATCTTAACTGTAAGTTTGAGT 0.282 66 232 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5352528 5352530 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:5352528_5352530delGAG ENST00000399537.4 - 27 8340_8342 c.7992_7994delCTC c.(7990-7995)tct>tc p.SS2670del TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del O15417 TNC18_HUMAN trinucleotide repeat containing 18 2670 Ser-rich. DNA binding p.S2671delS(2)|p.P1177delP(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) agaggaggaagaggaggaggagg 0.640 7 47 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:24705666delA ENST00000396475.2 + 9 1209 c.910delA c.(910-912)aafs p.K308fs MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 308 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TATAAGTAGCAAAAAAAAGAA 0.299 7 1441 --- --- --- --- ZNF733P 0 broad.mit.edu 37 7 62752415 62752416 + RNA INS - - C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:62752415_62752416insC ENST00000331425.6 - 0 1019_1020 NR_003952.1 GCATAGGGTTTTCTCTAGTATG 0.421 10 506 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150713 65150714 + RNA INS - - A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:65150713_65150714insA ENST00000430126.2 + 0 694_695 CATACCATGAGAAAATCTCTAA 0.436 7 124 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 17 38 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72286070 72286071 + RNA INS - - A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:72286070_72286071insA ENST00000438125.1 - 0 234 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CCTAATAGGACAAAAAAAAACT 0.381 8 348 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77569581 77569581 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:77569581delT ENST00000416283.2 + 12 1726 c.1600delT c.(1600-1602)ttfs p.F535fs PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GTGGATTTTCTTTTTTTTGCT 0.303 10 876 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82595446 82595447 + Frame_Shift_Ins INS - - T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:82595446_82595447insT ENST00000423517.2 - 4 3994_3995 c.3657_3658insA c.(3655-3660)aataatfs p.NN1219fs PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1158 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCAGGGATTAGTTTTTTTTCTT 0.386 8 1299 --- --- --- --- CYP51A1 1595 broad.mit.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:91752494delT ENST00000003100.8 - 7 1191 c.1026delA c.(1024-1026)aafs p.K342fs CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs|LRRD1_ENST00000422722.1_5'UTR NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 336 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTAAATAACATTTTTTTTGAA 0.398 7 1107 --- --- --- --- PTCD1 26024 broad.mit.edu 37 7 99032605 99032607 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:99032605_99032607delCTC ENST00000292478.4 - 2 509_511 c.259_261delGAG c.(259-261)del p.E87del PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000485746.1_5'UTR NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 p.E87K(1) endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCCCAAAACTCTCCTCCTCCTCC 0.606 8 804 --- --- --- --- LRRC17 10234 broad.mit.edu 37 7 102584992 102584993 + Frame_Shift_Ins INS - - A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:102584992_102584993insA ENST00000339431.4 + 4 1559_1560 c.1264_1265insA c.(1264-1266)aaafs p.K422fs LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron NM_001031692.2 NP_001026862.1 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 422 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 TGATGAATGGGAAAAAAAACAT 0.337 8 658 --- --- --- --- WNT2 7472 broad.mit.edu 37 7 116955171 116955175 + Frame_Shift_Del DEL TCCTT TCCTT - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:116955171_116955175delTCCTT ENST00000265441.3 - 3 837_841 c.538_542delAAGGA c.(538-543)tfs p.KD180fs AC002465.2_ENST00000436097.1_RNA NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 180 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GGCTCTGGCAtcctttcctttcctt 0.463 8 807 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 7 100 --- --- --- --- EPHB6 0 broad.mit.edu 37 7 142562309 142562309 + Frame_Shift_Del DEL G G - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:142562309delG ENST00000392957.2 + 7 1538 c.751delG c.(751-753)ggfs p.G252fs EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 252 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAGTGGGGCTGGGGGGGCCTC 0.682 7 1332 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37728933 37728933 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:37728933delT ENST00000330843.4 - 4 3399 c.3387delA c.(3385-3387)aafs p.K1129fs RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1129 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGCTGTGGCTTTTTTTTGAG 0.542 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 853 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 10 749 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 100990177 100990178 + Frame_Shift_Ins INS - - T rs7841915 by1000genomes TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:100990177_100990178insT ENST00000360863.6 - 23 3680_3681 c.3486_3487insA c.(3484-3489)aatggcfs p.NG1162fs RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs|RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1162 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGGACTGCCAATTTTTTTTTCT 0.312 9 295 --- --- --- --- ANXA13 312 broad.mit.edu 37 8 124707761 124707762 + Frame_Shift_Ins INS - - T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:124707761_124707762insT ENST00000262219.6 - 7 641_642 c.574_575insA c.(574-576)cctfs p.P192fs ANXA13_ENST00000419625.1_Frame_Shift_Ins_p.P151fs NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 151 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) AGACACCAGGATTTTTTTTAGG 0.411 7 802 --- --- --- --- ANKRD20A1 84210 broad.mit.edu 37 9 67934791 67934794 + Frame_Shift_Del DEL AAAG AAAG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:67934791_67934794delAAAG ENST00000377477.2 + 4 673_676 c.561_564delAAAG c.(559-564)aafs p.KK187fs NM_032250.3 NP_115626.2 ankyrin repeat domain 20 family, member A1 kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 11 TTTTATTGAAAAAGAAAGCAAGTT 0.309 7 29 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 17 244 --- --- --- --- TTF1 7270 broad.mit.edu 37 9 135277388 135277388 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:135277388delT ENST00000334270.2 - 2 860 c.821delA c.(820-822)agfs p.K274fs NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 274 Poly-Lys. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TTTCTTAGACTTTTTTTTGTG 0.473 7 575 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 7 296 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 10 483 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 7 622 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14284600 14284600 + RNA DEL A A - rs79477301 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:14284600delA ENST00000310358.7 + 0 2795 RP11-21L19.1_ENST00000534587.1_RNA Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GGACCTGTTTaaaaaaaaaaa 0.463 9 59 --- --- --- --- PSMA1 5682 broad.mit.edu 37 11 14529252 14529254 + In_Frame_Del DEL CAT CAT - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:14529252_14529254delCAT ENST00000530457.1 - 9 1138_1140 c.608_610delATG c.(607-612)gtg>g p.DV203del PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del|PSMA1_ENST00000524606.1_5'UTR P25786 PSA1_HUMAN proteasome (prosome, macropain) subunit, alpha type, 1 228 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 AATGGAGACACATCATCATCATC 0.360 8 543 --- --- --- --- KCNA4 3739 broad.mit.edu 37 11 30034029 30034031 + In_Frame_Del DEL TGG TGG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:30034029_30034031delTGG ENST00000328224.6 - 2 1428_1430 c.195_197delCCA c.(193-198)cag>ca p.HQ65del NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 65 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCGCGTGACTGGTGGTGGTGGT 0.660 7 346 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 10 588 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:119149356_119149358delATG ENST00000264033.4 + 9 1740_1742 c.1364_1366delATG c.(1363-1368)tat>t p.YD455del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 455 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCCAAATTATGATGATGATGA 0.473 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 10 317 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546856 11546858 + In_Frame_Del DEL AGA AGA - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:11546856_11546858delAGA ENST00000389362.4 - 3 189_191 c.154_156delTCT c.(154-156)del p.S52del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTCCTGGAGGAGATGGGGGACCT 0.557 7 794 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53001991 53001991 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:53001991delT ENST00000305748.3 - 9 1646 c.1612delA c.(1612-1614)ccfs p.T538fs RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 538 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TATCTCATGGTTTTTTTGGTG 0.532 7 895 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:56558379_56558381delAGG ENST00000550164.1 - 28 3381_3383 c.3367_3369delCCT c.(3367-3369)del p.P1123del SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1092 Pro-rich. HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694). chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGATGGAGCAGGAGGAGGAGGA 0.591 7 171 --- --- --- --- CUX2 23316 broad.mit.edu 37 12 111758235 111758237 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:111758235_111758237delTCC ENST00000261726.6 + 17 2576_2578 c.2422_2424delTCC c.(2422-2424)del p.S813del NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 813 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCCTCGCTGTCCTCCTCCTCCT 0.749 8 257 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:113704096_113704098delCTG ENST00000550785.1 + 5 734_736 c.565_567delCTG c.(565-567)del p.L194del TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 23 1671 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 7 626 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 12 369 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46543660 46543661 + Frame_Shift_Ins INS - - T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:46543660_46543661insT ENST00000242848.4 - 14 3366_3367 c.3018_3019insA c.(3016-3021)aagtaafs p.*1007fs ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.*1007fs Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1007 Lys-rich. nucleic acid binding|zinc ion binding p.R1007fs*2(1) cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) GATTTTTTACGTTTTTTTTCAA 0.371 9 529 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138110 20138110 + RNA DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:20138110delT ENST00000548261.1 + 0 391 GGGAACTTCCTCCACTCCTTT 0.488 24 850 --- --- --- --- GPHN 10243 broad.mit.edu 37 14 67389496 67389497 + Frame_Shift_Ins INS - - C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:67389496_67389497insC ENST00000478722.1 + 7 1691_1692 c.570_571insC c.(568-573)ccccccfs p.PP190fs GPHN_ENST00000543237.1_Frame_Shift_Ins_p.PP203fs|GPHN_ENST00000305960.9_Frame_Shift_Ins_p.PP159fs|GPHN_ENST00000459628.1_Frame_Shift_Ins_p.PP172fs|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Frame_Shift_Ins_p.PP190fs NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 190 Interaction with GABARAP (By similarity). Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) CTTCCCCACCTCCCCCTCTTTC 0.470 T MLL AL 10 690 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 11 150 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25481200 25481201 + RNA INS - - T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:25481200_25481201insT ENST00000453082.2 + 0 1934 NR_003343.1 TCCACTGGAAGTTTTTTTTGCG 0.510 10 770 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 11 775 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:65918177_65918179delCTG ENST00000261892.6 + 2 2046_2048 c.1759_1761delCTG c.(1759-1761)del p.L591del SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 591 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTGGGAGAGCCTGCTGCTGCTGC 0.547 21 374 --- --- --- --- VPS33B 26276 broad.mit.edu 37 15 91550236 91550238 + In_Frame_Del DEL TCC TCC - rs147271815 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:91550236_91550238delTCC ENST00000333371.3 - 9 995_997 c.642_644delGGA c.(640-645)gat>ga p.ED214del VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 214 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GGTTTCGCCATCCTCCTCCTCCT 0.522 7 673 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 18 1146 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:20370700_20370702delCCA ENST00000302451.4 - 12 1942_1944 c.1694_1696delTGG c.(1693-1698)gct>g p.VA565del NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 565 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTGGCTTAGCCACCACCACCAC 0.478 16 1261 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gcc>gc p.AS587del SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 587 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 11 341 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 7 360 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 8 393 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72821594 72821596 + In_Frame_Del DEL GCC GCC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:72821594_72821596delGCC ENST00000268489.5 - 10 11251_11253 c.10579_10581delGGC c.(10579-10581)del p.G3527del AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3527 Poly-Gly. G -> GGG. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGTGGTACGAgccgccgccgccg 0.690 8 390 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:7801857_7801859delAAG ENST00000380358.4 + 13 2273_2275 c.2272_2274delAAG c.(2272-2274)del p.K762del CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 703 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CCGCAAGTATAAGAAGAAGAAGA 0.488 9 181 --- --- --- --- AC005863.1 0 broad.mit.edu 37 17 14673542 14673543 + RNA INS - - T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:14673542_14673543insT ENST00000379640.1 - 0 354_355 GCTGGTCCCAGTTTTTTTTTCT 0.450 7 192 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:16335490_16335492delTGC ENST00000338560.7 + 12 2264_2266 c.1865_1867delTGC c.(1864-1869)gtg>g p.VL622del TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del|TRPV2_ENST00000583241.1_3'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 622 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 13 268 --- --- --- --- KRTAP9-1 0 broad.mit.edu 37 17 39346425 39346427 + In_Frame_Del DEL GTG GTG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:39346425_39346427delGTG ENST00000398470.1 + 1 287_289 c.287_289delGTG c.(286-291)tgc>t p.CG96del KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice|KRTAP9-1_ENST00000377723.3_Intron NM_001190460.1 NP_001177389.1 A8MXZ3 KRA91_HUMAN keratin associated protein 9-1 96 30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI]. keratin filament breast(1)|lung(3) 4 TCCAGCTGCTGTGGCCAAACCAG 0.606 7 108 --- --- --- --- STAT5B 6777 broad.mit.edu 37 17 40370236 40370236 + Frame_Shift_Del DEL G G - rs144993426 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:40370236delG ENST00000293328.3 - 9 1270 c.1102delC c.(1102-1104)agfs p.Q368fs NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 368 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GCCTTCACCTGGGGGGGGTTC 0.577 10 279 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 7 89 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:78201649_78201651delTGC ENST00000361193.3 + 7 906_908 c.626_628delTGC c.(625-630)atg>a p.ML209del SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 209 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTGGTCTGCATGCTGCTGCTGCT 0.675 9 639 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 8 194 --- --- --- --- CCDC178 374864 broad.mit.edu 37 18 30913142 30913143 + Frame_Shift_Ins INS - - T TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr18:30913142_30913143insT ENST00000383096.3 - 10 1056_1057 c.874_875insA c.(874-876)ggafs p.G292fs CCDC178_ENST00000300227.8_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000583930.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000406524.2_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000403303.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000402325.1_Frame_Shift_Ins_p.G292fs coiled-coil domain containing 178 p.M292fs*3(2) ATTTACCTCCATTTTTTTTTTA 0.317 9 136 --- --- --- --- MLLT1 4298 broad.mit.edu 37 19 6222272 6222274 + In_Frame_Del DEL AGG AGG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:6222272_6222274delAGG ENST00000252674.7 - 6 1131_1133 c.968_970delCCT c.(967-972)ttc>t p.SF323del NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 323 Poly-Ser. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 TTGTCCGAGAAGGAGGAGGAGGA 0.650 T MLL AL 8 173 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12155625 12155625 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:12155625delT ENST00000602107.1 - 5 731 c.732delA c.(730-732)aafs p.K244fs CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Del_p.K197fs C9JN71 ZN878_HUMAN zinc finger protein 878 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 ATTCATAGGGTTTTTTTGCAG 0.398 9 1144 --- --- --- --- CCDC130 81576 broad.mit.edu 37 19 13873132 13873134 + In_Frame_Del DEL AGG AGG - rs148655062 byFrequency TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:13873132_13873134delAGG ENST00000586600.1 + 10 1096_1098 c.593_595delAGG c.(592-597)cag>c p.QE198del CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del P13994 CC130_HUMAN coiled-coil domain containing 130 198 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) AAAGCCATCCAGGAGGAGGAGGA 0.586 10 528 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:47883158_47883160delGGA ENST00000328771.4 + 14 3247_3249 c.2898_2900delGGA c.(2896-2901)ctg>ct p.LE966del NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 966 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCAGCAGCTGGAGGAGGAGGAG 0.660 10 265 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 13 57 --- --- --- --- MIR520H 0 broad.mit.edu 37 19 54245814 54245815 + RNA INS - - A TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:54245814_54245815insA ENST00000385126.1 + 0 49_50 NR_030215.1 TGTTGTCTGAGAAAAAACAAAG 0.416 103 777 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 16 603 --- --- --- --- TFAP2C 7022 broad.mit.edu 37 20 55212855 55212856 + Frame_Shift_Del DEL CA CA - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr20:55212855_55212856delCA ENST00000201031.2 + 7 1382_1383 c.1139_1140delCA c.(1138-1140)cfs p.P380fs TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 380 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) AGGCTCGCCCCAGTCTTGGAGA 0.550 156 377 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918793 20918795 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:20918793_20918795delCAG ENST00000263205.7 + 6 577_579 c.508_510delCAG c.(508-510)del p.Q174del MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 174 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagttccagcagcagcagc 0.616 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 216 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 10 713 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38121861 38121862 + Frame_Shift_Ins INS - - C TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:38121861_38121862insC ENST00000406386.3 + 7 3553_3554 c.3298_3299insC c.(3298-3300)cccfs p.P1100fs RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1100 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.S1100F(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TCAGTGTCAGTCCCCCCAACAC 0.663 8 1065 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:37312611delC ENST00000542554.1 + 5 666 c.394delC c.(394-396)ccfs p.P135fs PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 135 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TATCACCCCACCCCCCCCACC 0.488 7 301 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A9TJ-06A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 7 436 --- --- --- ---