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 TNN 63923 broad.mit.edu 37 1 175049544 175049544 + Missense_Mutation SNP C C T rs140077325 TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr1:175049544C>T ENST00000239462.4 + 4 1143 c.1030C>T c.(1030-1032)Cat>Tat p.H344Y NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 344 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAGCCCACAGCATCTACTTGC 0.507 4 53 --- --- --- --- FUNDC2P2 388965 broad.mit.edu 37 2 84517924 84517924 + RNA SNP G G A TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr2:84517924G>A ENST00000331369.5 + 0 118 GTGTGTCCTCGCAAGACTAGC 0.587 5 13 --- --- --- --- RGPD4 285190 broad.mit.edu 37 2 108487522 108487522 + Missense_Mutation SNP T T C TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr2:108487522T>C ENST00000408999.3 + 20 3139 c.3062T>C c.(3061-3063)tTt>tCt p.F1021S RGPD4_ENST00000354986.4_Missense_Mutation_p.F1021S NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1021 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCCGGTGACTTTGAGAAAGAT 0.383 4 264 --- --- --- --- MAP2 4133 broad.mit.edu 37 2 210588329 210588329 + Nonsense_Mutation SNP T T A TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr2:210588329T>A ENST00000199940.6 + 12 1627 c.1187T>A c.(1186-1188)tTa>tAa p.L396* MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000360351.4_Intron NM_001039538.1 NP_001034627.1 P11137 MAP2_HUMAN microtubule-associated protein 2 1674 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GTTAGGATTTTAAACAAGAAG 0.408 11 28 --- --- --- --- CHL1 10752 broad.mit.edu 37 3 419627 419627 + Splice_Site SNP T T C TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr3:419627T>C ENST00000256509.2 + 16 2518 c.e16+2 CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Splice_Site NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CTGTTCTTGGTAAGTGCACTA 0.393 3 63 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114278436 114278436 + Nonsense_Mutation SNP A A T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr4:114278436A>T ENST00000357077.4 + 38 8715 c.8662A>T c.(8662-8664)Aag>Tag p.K2888* ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.K2855*|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2855 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAACTTACCAAAGGACTGCCC 0.383 4 113 --- --- --- --- PCDHA6 56142 broad.mit.edu 37 5 140209758 140209758 + Silent SNP G G T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr5:140209758G>T ENST00000529310.1 + 1 2196 c.2082G>T c.(2080-2082)gtG>gtT p.V694V PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018909.2|NM_031848.2|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCGCTGGTGGATGTCAACG 0.677 5 112 --- --- --- --- CDSN 1041 broad.mit.edu 37 6 31084574 31084574 + Missense_Mutation SNP C C T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr6:31084574C>T ENST00000376288.2 - 2 844 c.818G>A c.(817-819)tGt>tAt p.C273Y PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR NM_001264.4 NP_001255 Q15517 CDSN_HUMAN corneodesmosin 273 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 ACCATTGCTACAGGGGGGACC 0.602 11 31 --- --- --- --- UTRN 7402 broad.mit.edu 37 6 144768388 144768388 + Missense_Mutation SNP A A C TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr6:144768388A>C ENST00000367545.3 + 14 1656 c.1656A>C c.(1654-1656)ttA>ttC p.L552F NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 552 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AAGAGGCTTTAAATAAAGTCC 0.363 14 20 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 3611520 3611520 + Missense_Mutation SNP T T A TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr8:3611520T>A ENST00000520002.1 - 6 1418 c.863A>T c.(862-864)aAt>aTt p.N288I CSMD1_ENST00000537824.1_Missense_Mutation_p.N288I|CSMD1_ENST00000602723.1_Missense_Mutation_p.N288I|CSMD1_ENST00000400186.3_Missense_Mutation_p.N288I|CSMD1_ENST00000542608.1_Missense_Mutation_p.N288I|CSMD1_ENST00000602557.1_Missense_Mutation_p.N288I|CSMD1_ENST00000539096.1_Missense_Mutation_p.N288I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 288 CUB 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCGTAGCCAATTCTTGCTACT 0.433 3 28 --- --- --- --- FAM111B 374393 broad.mit.edu 37 11 58893556 58893556 + Silent SNP T T C TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr11:58893556T>C ENST00000343597.3 + 4 2177 c.1986T>C c.(1984-1986)gtT>gtC p.V662V FAM111B_ENST00000411426.1_Silent_p.V632V|FAM111B_ENST00000529618.1_Silent_p.V632V NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 662 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 GCAAATTGGTTGCTTTGCATA 0.383 10 96 --- --- --- --- RSF1 51773 broad.mit.edu 37 11 77412452 77412452 + Missense_Mutation SNP C C G TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr11:77412452C>G ENST00000308488.6 - 6 2124 c.1822G>C c.(1822-1824)Gaa>Caa p.E608Q RSF1_ENST00000480887.1_Missense_Mutation_p.E356Q|RSF1_ENST00000360355.2_Missense_Mutation_p.E577Q Q96T23 RSF1_HUMAN remodeling and spacing factor 1 608 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) GGAACTTCTTCTGGTATTGGA 0.423 33 64 --- --- --- --- HTR3B 9177 broad.mit.edu 37 11 113813797 113813797 + Missense_Mutation SNP C C T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr11:113813797C>T ENST00000260191.2 + 7 1047 c.790C>T c.(790-792)Cca>Tca p.P264S HTR3B_ENST00000537778.1_Missense_Mutation_p.P253S NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 264 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) CTTCTACCTGCCACCCAACTG 0.587 16 23 --- --- --- --- FLRT2 23768 broad.mit.edu 37 14 86089586 86089586 + Missense_Mutation SNP G G T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr14:86089586G>T ENST00000330753.4 + 2 2495 c.1728G>T c.(1726-1728)aaG>aaT p.K576N FLRT2_ENST00000554746.1_Missense_Mutation_p.K576N NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 576 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CCTCCCAGAAGTGGAAATACA 0.542 4 100 --- --- --- --- PACS2 23241 broad.mit.edu 37 14 105818794 105818794 + Missense_Mutation SNP T T C TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr14:105818794T>C ENST00000447393.1 + 3 462 c.287T>C c.(286-288)tTc>tCc p.F96S PACS2_ENST00000547217.1_Intron|PACS2_ENST00000325438.8_Missense_Mutation_p.F96S|PACS2_ENST00000458164.2_Missense_Mutation_p.F96S|PACS2_ENST00000430725.2_Missense_Mutation_p.F29S NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 96 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GCCCTGACCTTCTCCTTGCAG 0.607 OREG0022968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 47 --- --- --- --- CTDSPL2 51496 broad.mit.edu 37 15 44783110 44783110 + Missense_Mutation SNP A A G TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr15:44783110A>G ENST00000260327.4 + 5 1167 c.604A>G c.(604-606)Aat>Gat p.N202D CTDSPL2_ENST00000558373.1_Intron|CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.N202D NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 202 phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) AGCTTACTCAAATCAAGCAGT 0.393 27 57 --- --- --- --- ARL16 339231 broad.mit.edu 37 17 79650772 79650772 + Silent SNP C C G TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr17:79650772C>G ENST00000397498.4 - 1 182 c.84G>C c.(82-84)ctG>ctC p.L28L NM_001040025.1 NP_001035114.1 Q0P5N6 ARL16_HUMAN ADP-ribosylation factor-like 16 28 GTP binding central_nervous_system(1)|endometrium(1)|lung(4)|skin(1) 7 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TGGCCCCCAGCAGGAGACACA 0.701 4 9 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77659468 77659468 + Silent SNP C C T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr18:77659468C>T ENST00000316249.3 + 2 1053 c.1053C>T c.(1051-1053)cgC>cgT p.R351R KCNG2_ENST00000590307.1_3'UTR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 351 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.R351R(1) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GCGCGCGCCGCGACTTCTCCA 0.721 8 17 --- --- --- --- ERGIC3 51614 broad.mit.edu 37 20 34143849 34143849 + Missense_Mutation SNP T T A TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr20:34143849T>A ENST00000348547.2 + 9 840 c.763T>A c.(763-765)Tat>Aat p.Y255N ERGIC3_ENST00000447986.1_Missense_Mutation_p.Y270N|ERGIC3_ENST00000279052.6_Missense_Mutation_p.Y260N|ERGIC3_ENST00000357394.4_Missense_Mutation_p.Y260N|ERGIC3_ENST00000482338.1_3'UTR NM_015966.2 NP_057050.1 Q9Y282 ERGI3_HUMAN ERGIC and golgi 3 255 vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1) 16 Lung NSC(9;0.00489)|all_lung(11;0.00729) BRCA - Breast invasive adenocarcinoma(18;0.0127) TGGGGAGGACTATCCAGGCAT 0.587 43 98 --- --- --- --- EBNA1BP2 10969 broad.mit.edu 37 1 43630134 43630136 + In_Frame_Del DEL TCT TCT - TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr1:43630134_43630136delTCT ENST00000431635.2 - 10 1212_1214 c.1064_1066delAGA c.(1063-1068)aagatg>atg p.K355del EBNA1BP2_ENST00000236051.2_In_Frame_Del_p.K300del NM_001159936.1 NP_001153408.1 Q99848 EBP2_HUMAN EBNA1 binding protein 2 300 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGTTCTTCATCTTCTCTCTTGT 0.424 32 50 --- --- --- ---