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 ZNF354A 6940 broad.mit.edu 37 5 178152399 178152399 + Silent SNP G G A rs142721313 byFrequency TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr5:178152399G>A ENST00000335815.2 - 4 431 c.234C>T c.(232-234)gaC>gaT p.D78D NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 78 KRAB. regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) CGCCAGAACCGTCTTTCTCCA 0.527000 6 147 0 0 0.047766 0 0 CCDC108 255101 broad.mit.edu 37 2 219886587 219886587 + Silent SNP G G A TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr2:219886587G>A ENST00000341552.5 - 18 3128 c.3045C>T c.(3043-3045)gtC>gtT p.V1015V CCDC108_ENST00000453220.1_Silent_p.V1015V|CCDC108_ENST00000441968.1_Silent_p.V1015V NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1015 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATTCAGGAGGACAAGGAACC 0.607000 66 137 0 0 0.139131 0 0 PRKD1 5587 broad.mit.edu 37 14 30105538 30105538 + Missense_Mutation SNP T T C TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr14:30105538T>C ENST00000331968.5 - 7 1377 c.1148A>G c.(1147-1149)cAa>cGa p.Q383R PRKD1_ENST00000415220.2_Missense_Mutation_p.Q391R NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 383 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GTCTGGATCTTGCATCTCGCC 0.537000 102 120 0 0 0.139131 0 0 THAP5 168451 broad.mit.edu 37 7 108204990 108204990 + Missense_Mutation SNP G G A TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr7:108204990G>A ENST00000415914.3 - 3 986 c.833C>T c.(832-834)gCt>gTt p.A278V THAP5_ENST00000313516.5_Missense_Mutation_p.A236V|THAP5_ENST00000493722.1_5'UTR NM_001130475.1 NP_001123947.1 Q7Z6K1 THAP5_HUMAN THAP domain containing 5 278 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 AGAATTTTCAGCAGGTACAAA 0.328000 3 33 0 0 0.115264 0 0 AP005901.1 0 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr18:15323276A>T ENST00000455308.2 - 0 572 NR_027417.1 ATCAACTGCAATTGCATTTGC 0.308000 3 18 0 0 0.009096 0 0 ALCAM 214 broad.mit.edu 37 3 105252457 105252457 + Missense_Mutation SNP G G A TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr3:105252457G>A ENST00000306107.5 + 5 970 c.470G>A c.(469-471)tGc>tAc p.C157Y ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.C106Y|ALCAM_ENST00000472644.2_Missense_Mutation_p.C157Y|ALCAM_ENST00000389927.4_5'UTR NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 157 Ig-like V-type 2. 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 TTGGGTGACTGCATTTCAGAA 0.443000 45 49 0 0 0.139131 0 0 PLP1 5354 broad.mit.edu 37 X 103041545 103041545 + Missense_Mutation SNP G G A TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chrX:103041545G>A ENST00000418604.1 + 4 623 c.343G>A c.(343-345)Gca>Aca p.A115T PLP1_ENST00000361621.2_Missense_Mutation_p.A115T|PLP1_ENST00000303958.2_Missense_Mutation_p.A115T NM_001128834.1 NP_001122306.1 P60201 MYPR_HUMAN proteolipid protein 1 115 cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 GGGCCTGAGCGCAACGGTAAC 0.582000 4 171 0 0 0.009096 0 0 CKAP2L 150468 broad.mit.edu 37 2 113513632 113513632 + Missense_Mutation SNP G G A TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr2:113513632G>A ENST00000541405.1 - 4 1344 c.821C>T c.(820-822)aCt>aTt p.T274I CKAP2L_ENST00000302450.6_Missense_Mutation_p.T439I Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 439 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 ATCAGCTTGAGTTTTGGGAGC 0.408000 62 70 0 0 0.139131 0 0 IGFBP5 3488 broad.mit.edu 37 2 217541606 217541606 + Splice_Site SNP C C G TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr2:217541606C>G ENST00000233813.4 - 4 1437 c.e4-1 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGGTTTGCACTGGGGTGAGT 0.617000 5 334 0 0 0.029380 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 4 100 0 0 0.009096 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418145 105418145 + Missense_Mutation SNP G G A TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr14:105418145G>A ENST00000333244.5 - 7 3762 c.3643C>T c.(3643-3645)Ccc>Tcc p.P1215S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1215 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCGGAAGGGGGCTGAATGCTG 0.647000 2 0 0 0 0.021553 0 0 SRSF5 6430 broad.mit.edu 37 14 70237718 70237718 + Silent SNP T T G TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr14:70237718T>G ENST00000553521.1 + 8 1900 c.447T>G c.(445-447)gtT>gtG p.V149V SRSF5_ENST00000557154.1_Silent_p.V149V|SRSF5_ENST00000553635.1_Silent_p.V146V|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Silent_p.V149V Q13243 SRSF5_HUMAN serine/arginine-rich splicing factor 5 149 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding large_intestine(1)|liver(1) 2 TTAGGGTGGTTGAGTTTGCCT 0.358000 6 24 0 0 0.058154 0 0 LTF 4057 broad.mit.edu 37 3 46484938 46484938 + Missense_Mutation SNP G G A TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr3:46484938G>A ENST00000231751.4 - 13 1944 c.1649C>T c.(1648-1650)gCt>gTt p.A550V LTF_ENST00000426532.2_Missense_Mutation_p.A506V|LTF_ENST00000417439.1_Missense_Mutation_p.A548V NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 550 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) TCACCGGAAAGCCCCAGTGTA 0.532000 80 108 0 0 0.139131 0 0 RP11-445N18.7 0 broad.mit.edu 37 10 45652269 45652269 + RNA SNP G G A TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr10:45652269G>A ENST00000427229.2 + 0 1783 CACCCTTGGCGGAAAGAACAC 0.473000 3 41 0 0 0.021553 0 0 ATP2B4 493 broad.mit.edu 37 1 203680123 203680123 + Missense_Mutation SNP A A G TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr1:203680123A>G ENST00000357681.5 + 12 3041 c.1918A>G c.(1918-1920)Ata>Gta p.I640V ATP2B4_ENST00000391954.2_Missense_Mutation_p.I640V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.I640V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.I628V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.I640V NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 640 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GACTATCTGCATAGCTTACCG 0.532000 42 82 0 0 0.139131 0 0 LDHA 3939 broad.mit.edu 37 11 18427040 18427040 + Missense_Mutation SNP T T C TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr11:18427040T>C ENST00000422447.3 + 7 1028 c.755T>C c.(754-756)aTt>aCt p.I252T LDHA_ENST00000542179.1_Missense_Mutation_p.I252T|LDHA_ENST00000540430.1_Missense_Mutation_p.I281T|LDHA_ENST00000430553.2_Missense_Mutation_p.I194T|LDHA_ENST00000396222.2_Intron|LDHA_ENST00000379412.5_Missense_Mutation_p.I252T|LDHA_ENST00000227157.4_Intron NM_001135239.1|NM_005566.3 NP_001128711.1|NP_005557.1 P00338 LDHA_HUMAN lactate dehydrogenase A 252 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4) 12 NADH(DB00157) TCCTGGGCTATTGGACTCTCT 0.443000 4 72 0 0 0.014758 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367485.4_Silent_p.K617K|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 3 122 0 0 0.009096 0 0 TRIO 7204 broad.mit.edu 37 5 14297305 14297305 + Missense_Mutation SNP C C T TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr5:14297305C>T ENST00000344204.4 + 7 1325 c.1301C>T c.(1300-1302)gCg>gTg p.A434V TRIO_ENST00000537187.1_Missense_Mutation_p.A434V|TRIO_ENST00000509967.2_Missense_Mutation_p.A385V NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 434 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AAGGCGTTTGCGGCAGCCCTG 0.602000 3 46 0 0 0.115264 0 0 ANGPTL6 83854 broad.mit.edu 37 19 10204121 10204121 + Missense_Mutation SNP G G A TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr19:10204121G>A ENST00000253109.4 - 5 1364 c.1126C>T c.(1126-1128)Cgg>Tgg p.R376W ANGPTL6_ENST00000592641.1_Missense_Mutation_p.R376W|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.R336W NM_031917.2 NP_114123.2 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 376 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1) 12 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) TGGCCAAGCCGCAGGCGGTAG 0.597000 3 44 0 0 0.009096 0 0 CCDC15 80071 broad.mit.edu 37 11 124857495 124857495 + Missense_Mutation SNP A A C rs113451248 TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr11:124857495A>C ENST00000529051.1 + 8 1632 c.1373A>C c.(1372-1374)cAc>cCc p.H458P CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 458 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCACAAAGACCAA 0.418000 3 53 0 0 0.115264 0 0 DNM1P47 0 broad.mit.edu 37 15 102304695 102304695 + RNA SNP G G C TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr15:102304695G>C ENST00000561463.1 + 0 12741 CTGCTTCTCAGAGCTGCTGTC 0.627000 3 10 0 0 0.014758 0 0 ARIH1 25820 broad.mit.edu 37 15 72767235 72767235 + Silent SNP C C T TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr15:72767235C>T ENST00000379887.4 + 1 569 c.255C>T c.(253-255)ggC>ggT p.G85G RP11-1007O24.3_ENST00000565181.1_lincRNA NM_005744.3 NP_005735.2 Q9Y4X5 ARI1_HUMAN ariadne RBR E3 ubiquitin protein ligase 1 85 Gly-rich. ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 14 gcggcggcggcggtggtggtg 0.736000 3 18 0 0 0.009096 0 0 PTPRS 5802 broad.mit.edu 37 19 5206842 5206842 + Missense_Mutation SNP C C G TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr19:5206842C>G ENST00000372412.4 - 38 6026 c.5793G>C c.(5791-5793)caG>caC p.Q1931H PTPRS_ENST00000587303.1_Missense_Mutation_p.Q1930H|PTPRS_ENST00000357368.4_Missense_Mutation_p.Q1930H|PTPRS_ENST00000353284.2_Missense_Mutation_p.Q1483H|PTPRS_ENST00000348075.2_Missense_Mutation_p.Q1892H|PTPRS_ENST00000592099.1_Missense_Mutation_p.Q1483H|PTPRS_ENST00000262963.6_Missense_Mutation_p.Q1910H|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.Q1892H Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1930 Tyrosine-protein phosphatase 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGTAACAGAACTGGTACTCAT 0.612000 7 99 0 0 0.058154 0 0 ZNF713 349075 broad.mit.edu 37 7 56006963 56006963 + Missense_Mutation SNP G G A TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr7:56006963G>A ENST00000429591.2 + 4 595 c.557G>A c.(556-558)aGa>aAa p.R186K MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATGCAGCAGAGAATTCCTTCC 0.368000 13 28 0 0 0.132662 0 0 CATSPERB 79820 broad.mit.edu 37 14 92088170 92088170 + Missense_Mutation SNP G G A TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr14:92088170G>A ENST00000256343.3 - 19 2198 c.2042C>T c.(2041-2043)gCt>gTt p.A681V NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 681 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AGGCATGGTAGCAATGGCTAA 0.393000 3 47 0 0 0.115264 0 0 MYH2 4620 broad.mit.edu 37 17 10432293 10432293 + Missense_Mutation SNP C C A TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr17:10432293C>A ENST00000245503.5 - 27 3842 c.3458G>T c.(3457-3459)aGc>aTc p.S1153I MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.S1153I|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1153 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CAGCCTCTCGCTGATCTCCTC 0.617000 90 96 1.33835e-49 1.71476e-49 0.139131 1 0 TSFM 10102 broad.mit.edu 37 12 58176601 58176601 + Missense_Mutation SNP C C T TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr12:58176601C>T ENST00000454289.3 + 1 230 c.17C>T c.(16-18)tCg>tTg p.S6L TSFM_ENST00000323833.8_Missense_Mutation_p.S6L|TSFM_ENST00000550559.1_Missense_Mutation_p.S6L|TSFM_ENST00000548851.1_Missense_Mutation_p.S6L|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000543727.1_Missense_Mutation_p.S6L|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000540550.1_Missense_Mutation_p.S6L|RP11-571M6.15_ENST00000553083.1_Intron NM_005726.5 NP_005717.3 P43897 EFTS_HUMAN Ts translation elongation factor, mitochondrial 6 regulation of transcription elongation, DNA-dependent mitochondrion|nucleus translation elongation factor activity endometrium(1)|kidney(1)|large_intestine(5)|prostate(1) 8 all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) CTGCTGCGGTCGCTGCGCGTG 0.652000 OREG0021954 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 9 0 0 0.021553 0 0 LCE1E 353135 broad.mit.edu 37 1 152760020 152760020 + Missense_Mutation SNP A A G TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr1:152760020A>G ENST00000368770.3 + 2 298 c.245A>G c.(244-246)cAc>cGc p.H82R LCE1E_ENST00000368771.1_Missense_Mutation_p.H82R NM_178353.1 NP_848130.1 Q5T753 LCE1E_HUMAN late cornified envelope 1E 82 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CACCACAGGCACCACAGGTCC 0.697000 5 119 0 0 0.014758 0 0 DLEC1 9940 broad.mit.edu 37 3 38162039 38162040 + Frame_Shift_Del DEL GA GA - TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr3:38162039_38162040delGA ENST00000308059.6 + 34 4826_4827 c.4805_4806delGA c.(4804-4806)gfs p.G1602fs DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs|DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1602 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGTGCGAGTGGAGAGAGAGAGA 0.579 7 121 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 7 334 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 10 69 --- --- --- --- GNL1 2794 broad.mit.edu 37 6 30513930 30513931 + Frame_Shift_Del DEL AT AT - TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr6:30513930_30513931delAT ENST00000376621.3 - 12 2712_2713 c.1742_1743delAT c.(1741-1743)gfs p.D581fs NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 581 Asp/Glu-rich (highly acidic). response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 GGGTctcctcatccccttctcc 0.639 2 4 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88753100 88753100 + RNA DEL T T - TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr10:88753100delT ENST00000444431.1 + 0 64 RP11-96C23.5_ENST00000433214.2_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 ATGAGTTTACTTTTTTTTTTA 0.303 4 6 --- --- --- --- KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - rs111751275 TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr19:8398950_8398961delTCGCTGTCGCCA ENST00000330915.3 - 5 1532_1543 c.1467_1478delTGGCGACAGCGA c.(1465-1479)gag>ga p.DGDSE489del KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 489 p.D489_S492delDGDS(2) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC 0.717 3 6 --- --- --- --- PMEPA1 56937 broad.mit.edu 37 20 56284593 56284595 + In_Frame_Del DEL CGG CGG - TCGA-J8-A3O1-01A-11D-A21A-08 TCGA-J8-A3O1-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1471f233-85c1-4689-853a-01947d5ba299 d48f2242-1f17-4fef-a647-c19839582493 g.chr20:56284593_56284595delCGG ENST00000341744.3 - 1 363_365 c.44_46delCCG c.(43-48)ggg>g p.AG15del PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000265626.4_Intron|PMEPA1_ENST00000472841.1_Intron|PMEPA1_ENST00000395816.3_Intron NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 15 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 TTGGGCTgcccggcggcggcggc 0.734 4 9 --- --- --- ---