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 CEACAM3 1084 broad.mit.edu 37 19 42301736 42301736 + Missense_Mutation SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr19:42301736G>A ENST00000357396.3 + 2 521 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 94 Ig-like V-type. integral to membrane p.A94T(1) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 CCCAGGGGCCGCATACAGCGG 0.463000 4 219 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110864414 110864414 + Missense_Mutation SNP T T G TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr4:110864414T>G ENST00000265171.5 + 3 777 c.332T>G c.(331-333)gTa>gGa p.V111G EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Missense_Mutation_p.V111G|EGF_ENST00000509793.1_Missense_Mutation_p.V111G NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 111 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TTGCAGAGAGTATGTAATATA 0.249000 11 35 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124857123 124857123 + Missense_Mutation SNP A A G TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr11:124857123A>G ENST00000529051.1 + 8 1260 c.1001A>G c.(1000-1002)gAt>gGt p.D334G CCDC15_ENST00000344762.5_Missense_Mutation_p.D334G Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 334 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) GAAGCCCAGGATTATTTTCTA 0.408000 8 60 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45131186 45131186 + Silent SNP C C A rs76419021 by1000genomes TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr20:45131186C>A ENST00000457685.2 - 6 2001 c.678G>T c.(676-678)ccG>ccT p.P226P ZNF334_ENST00000593880.1_Silent_p.P287P|ZNF334_ENST00000347606.4_Silent_p.P264P Q9HCZ1 ZN334_HUMAN zinc finger protein 334 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) TACAAACATACGGTTTCTCCC 0.393000 16 125 1.3612e-06 1.50601e-06 1 1 0 TTN 7273 broad.mit.edu 37 2 179615125 179615125 + Nonsense_Mutation SNP A A C TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr2:179615125A>C ENST00000360870.5 - 46 12224 c.12002T>G c.(12001-12003)tTa>tGa p.L4001* TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9817 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) TGAAAGAGTTAATATTGAATA 0.333000 5 55 0 0 1 0 0 LCE1C 353133 broad.mit.edu 37 1 152777721 152777721 + Silent SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr1:152777721G>A ENST00000368768.1 - 2 284 c.234C>T c.(232-234)agC>agT p.S78S LCE1C_ENST00000607093.1_Silent_p.S78S NM_178351.3 NP_848128.1 Q5T751 LCE1C_HUMAN late cornified envelope 1C 78 Gly-rich. keratinization NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1) 9 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCTGTGGTGGCTCAGGCAGC 0.706000 8 63 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148895640 148895640 + Missense_Mutation SNP C C A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr3:148895640C>A ENST00000264613.6 - 17 3267 c.3005G>T c.(3004-3006)aGc>aTc p.S1002I NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 1002 F5/8 type A 3.|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GTATTGGAAGCTATGGCCGTG 0.393000 5 99 0.014758 0.0156615 1 1 0 UTP11L 51118 broad.mit.edu 37 1 38478519 38478519 + Missense_Mutation SNP A A C TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr1:38478519A>C ENST00000373014.4 + 1 106 c.45A>C c.(43-45)gaA>gaC p.E15D UTP11L_ENST00000537711.1_Missense_Mutation_p.E15D NM_016037.3 NP_057121.2 Q9Y3A2 UTP11_HUMAN UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) 15 induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing cytoplasm|extracellular space|nucleolus|small-subunit processome protein binding NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GGCAGCGGGAACACAGAGAGC 0.612000 23 82 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70961830 70961830 + Missense_Mutation SNP C C T TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr6:70961830C>T ENST00000357250.6 - 28 2023 c.1865G>A c.(1864-1866)gGg>gAg p.G622E COL9A1_ENST00000320755.7_Missense_Mutation_p.G379E|COL9A1_ENST00000370499.4_Missense_Mutation_p.G379E|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 622 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CACAGGAAGCCCCTGGGGTCC 0.488000 4 136 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 7 53 0 0 1 0 0 HOXB13 10481 broad.mit.edu 37 17 46805519 46805519 + Missense_Mutation SNP A A G TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr17:46805519A>G ENST00000290295.7 - 1 1021 c.437T>C c.(436-438)gTg>gCg p.V146A NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 146 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 CACCACAGACACGTCCAGGTA 0.607000 16 70 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q 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 3 24 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132209998 132209998 + Missense_Mutation SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr12:132209998G>A ENST00000261674.4 + 5 796 c.655G>A c.(655-657)Gtg>Atg p.V219M SFSWAP_ENST00000541286.1_Missense_Mutation_p.V219M NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 219 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 GGCCAGCTTCGTGTGCAGGCA 0.557000 10 48 0 0 1 0 0 BCAS2 10286 broad.mit.edu 37 1 115123932 115123932 + Nonsense_Mutation SNP A A C TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr1:115123932A>C ENST00000369541.3 - 2 221 c.174T>G c.(172-174)taT>taG p.Y58* BCAS2_ENST00000485021.1_5'UTR NM_005872.2 NP_005863.1 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 58 mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4) 13 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CAAAGGCAGAATAATCCGGGG 0.448000 18 178 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47863892 47863892 + Missense_Mutation SNP G G C TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr20:47863892G>C ENST00000396105.1 - 14 5915 c.5669C>G c.(5668-5670)gCt>gGt p.A1890G ZNFX1_ENST00000371752.1_Missense_Mutation_p.A1890G|ZNFX1_ENST00000371754.4_Intron NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1890 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CATTTCAGAAGCAAGCTGGTT 0.517000 14 42 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324080 152324080 + Missense_Mutation SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr1:152324080G>A ENST00000388718.5 - 3 6254 c.6182C>T c.(6181-6183)tCa>tTa p.S2061L FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2061 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGGATCCTGACTCTCCATG 0.532000 53 485 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587196 55587196 + Missense_Mutation SNP G G T TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr11:55587196G>T ENST00000333976.4 + 1 111 c.91G>T c.(91-93)Gtt>Ttt p.V31F NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V31F(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) ACTCTTCCTGGTTTTTCTGGC 0.458000 4 79 0.184627 0.188247 1 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125685212 125685212 + Silent SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chrX:125685212G>A ENST00000371126.1 - 1 1622 c.1380C>T c.(1378-1380)ggC>ggT p.G460G NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 460 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 AGCTCCAGAGGCCTGCATAGT 0.537000 3 33 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109685642 109685642 + Translation_Start_Site SNP A A T TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr9:109685642A>T ENST00000277225.5 + 0 267 RP11-508N12.4_ENST00000451160.2_De_novo_Start_OutOfFrame|ZNF462_ENST00000457913.1_De_novo_Start_OutOfFrame Q96JM2 ZN462_HUMAN zinc finger protein 462 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CAGGTTCCTAATGTGAGAGGC 0.448000 5 49 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189702344 189702344 + Missense_Mutation SNP C C A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr3:189702344C>A ENST00000319332.5 - 7 1421 c.1224G>T c.(1222-1224)gaG>gaT p.E408D LEPREL1_ENST00000427335.2_Missense_Mutation_p.E227D NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 408 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CTTACCGATTCTCATCCTGTC 0.328000 3 44 0.004672 0.00506133 1 1 0 ERI2 112479 broad.mit.edu 37 16 20811285 20811285 + Missense_Mutation SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr16:20811285G>A ENST00000564349.1 - 8 833 c.358C>T c.(358-360)Cat>Tat p.H120Y ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000300005.3_Missense_Mutation_p.H213Y|ERI2_ENST00000357967.4_Missense_Mutation_p.H213Y|ERI2_ENST00000569729.1_Missense_Mutation_p.H213Y|ERI2_ENST00000563117.1_Missense_Mutation_p.H120Y A8K979 ERI2_HUMAN ERI1 exoribonuclease family member 2 213 Exonuclease. intracellular exonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2) 11 TAACCAGAATGTTCTCGTCCT 0.294000 4 43 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21826345 21826345 + Missense_Mutation SNP A A G TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr7:21826345A>G ENST00000328843.6 + 60 9753 c.9722A>G c.(9721-9723)aAa>aGa p.K3241R DNAH11_ENST00000409508.3_Missense_Mutation_p.K3234R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3241 Stalk (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 AGAGTGCCCAAAGACCGAAGT 0.493000 Kartagener syndrome 15 94 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197169426 197169426 + Nonsense_Mutation SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr1:197169426G>A ENST00000367405.4 - 1 246 c.178C>T c.(178-180)Cag>Tag p.Q60* ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 60 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 AGCTTTCTCTGATCTGGAGAG 0.383000 7 57 0 0 1 0 0 DHCR24 1718 broad.mit.edu 37 1 55349366 55349366 + Silent SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr1:55349366G>A ENST00000371269.3 - 2 410 c.312C>T c.(310-312)gtC>gtT p.V104V DHCR24_ENST00000535035.1_Silent_p.V63V NM_014762.3 NP_055577.1 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase 104 FAD-binding PCMH-type. anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 TGTACTTCCCGACACGTAGTG 0.537000 4 147 0 0 1 0 0 KLHL12 59349 broad.mit.edu 37 1 202863749 202863749 + Missense_Mutation SNP C C T TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr1:202863749C>T ENST00000367261.3 - 9 1482 c.1264G>A c.(1264-1266)Gta>Ata p.V422I KLHL12_ENST00000367259.1_Missense_Mutation_p.V155I|KLHL12_ENST00000435533.3_Missense_Mutation_p.V460I NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 422 Interaction with DVL3. Wnt receptor signaling pathway protein binding NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) CTGGCCACTACGAGTCCGGCA 0.532000 4 151 0 0 1 0 0 CNGA1 1259 broad.mit.edu 37 4 47938584 47938584 + Nonsense_Mutation SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr4:47938584G>A ENST00000402813.3 - 10 2276 c.2134C>T c.(2134-2136)Cga>Tga p.R712* CNGA1_ENST00000420489.2_Nonsense_Mutation_p.R643*|CNGA1_ENST00000358519.4_Nonsense_Mutation_p.R643*|CNGA1_ENST00000514170.1_Nonsense_Mutation_p.R643*|CNGA1_ENST00000544810.1_Nonsense_Mutation_p.R643* P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 643 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity p.R643*(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 GCCAAGATTCGGGCAAACCTG 0.428000 6 126 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19055731 19055731 + Silent SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr22:19055731G>A ENST00000545799.1 - 3 410 c.210C>T c.(208-210)acC>acT p.T70T DGCR2_ENST00000537045.1_Silent_p.T29T|DGCR2_ENST00000263196.7_Silent_p.T70T P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 70 cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) GCACCTCCCCGGTCACTTCTG 0.637000 4 8 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77412339 77412339 + Missense_Mutation SNP T T G TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr11:77412339T>G ENST00000308488.6 - 6 2237 c.1935A>C c.(1933-1935)aaA>aaC p.K645N RSF1_ENST00000360355.2_Missense_Mutation_p.K614N|RSF1_ENST00000480887.1_Missense_Mutation_p.K393N Q96T23 RSF1_HUMAN remodeling and spacing factor 1 645 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) CTACCACTTCTTTTTCTGAGG 0.438000 18 179 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65314313 65314313 + Missense_Mutation SNP G G T TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr11:65314313G>T ENST00000301873.5 - 15 2454 c.2186C>A c.(2185-2187)gCc>gAc p.A729D LTBP3_ENST00000322147.4_Missense_Mutation_p.A729D|LTBP3_ENST00000532932.1_Missense_Mutation_p.A159D|LTBP3_ENST00000536982.1_Missense_Mutation_p.A355D NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 729 Cys-rich. extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 AGGCTGACAGGCGATGCACTT 0.692000 15 44 6.31663e-08 7.14053e-08 1 1 0 LZTS1 11178 broad.mit.edu 37 8 20110914 20110914 + Silent SNP C C T TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr8:20110914C>T ENST00000381569.1 - 3 885 c.528G>A c.(526-528)cgG>cgA p.R176R LZTS1_ENST00000522290.1_Silent_p.R176R|LZTS1_ENST00000265801.6_Silent_p.R176R Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 176 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) ACATGGAGTTCCGGCCGGAGT 0.672000 4 24 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105801073 105801073 + Nonsense_Mutation SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr10:105801073G>A ENST00000353479.5 - 38 2925 c.2635C>T c.(2635-2637)Cga>Tga p.R879* COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R879* NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 879 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGTGGGCCTCGGGGTCCTGGT 0.647000 15 34 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992626 67992626 + Missense_Mutation SNP G G T TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr18:67992626G>T ENST00000397942.3 + 2 1038 c.722G>T c.(721-723)tGt>tTt p.C241F SOCS6_ENST00000582322.1_Missense_Mutation_p.C241F NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 241 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) CGGAGCTATTGTCTGGACAGC 0.517000 3 33 0.115264 0.119875 1 1 0 ELMO1 9844 broad.mit.edu 37 7 36910037 36910037 + Silent SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr7:36910037G>A ENST00000310758.4 - 20 2513 c.1866C>T c.(1864-1866)tgC>tgT p.C622C ELMO1_ENST00000442504.1_Silent_p.C622C|ELMO1_ENST00000341056.3_Silent_p.C324C|ELMO1_ENST00000396040.2_Silent_p.C142C|ELMO1_ENST00000396045.3_Silent_p.C142C|ELMO1_ENST00000448602.1_Silent_p.C622C NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 622 PH. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TCATATGAGGGCAGTCCTTTC 0.433000 6 76 0 0 1 0 0 ZBED4 9889 broad.mit.edu 37 22 50278227 50278227 + Missense_Mutation SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr22:50278227G>A ENST00000216268.4 + 2 1394 c.917G>A c.(916-918)tGc>tAc p.C306Y NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 306 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) AAAGCTGTCTGCATTCACTGC 0.582000 4 84 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27950458 27950458 + Missense_Mutation SNP C C A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr9:27950458C>A ENST00000379992.2 - 6 661 c.212G>T c.(211-213)aGc>aTc p.S71I LINGO2_ENST00000308675.3_Missense_Mutation_p.S71I NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 71 integral to membrane p.S71N(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) AGGGTTGACGCTTTTTAGCCT 0.438000 18 171 3.99206e-14 4.61304e-14 1 1 0 MUC17 140453 broad.mit.edu 37 7 100678485 100678485 + Missense_Mutation SNP C C T TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr7:100678485C>T ENST00000306151.4 + 3 3852 c.3788C>T c.(3787-3789)gCt>gTt p.A1263V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1263 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTACAACCGCTGAAGGTACC 0.522000 84 293 0 0 1 0 0 CRYGN 155051 broad.mit.edu 37 7 151127216 151127216 + Missense_Mutation SNP G G C TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr7:151127216G>C ENST00000337323.2 - 4 593 c.467C>G c.(466-468)tCt>tGt p.S156C RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR NM_144727.1 NP_653328.1 Q8WXF5 CRGN_HUMAN crystallin, gamma N 156 central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4) 8 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGATTGAAGAGAGCTGCTCAG 0.552000 7 44 0 0 1 0 0 NAT6 24142 broad.mit.edu 37 3 50334946 50334946 + Silent SNP A A C TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr3:50334946A>C ENST00000354862.4 - 2 216 c.15T>G c.(13-15)acT>acG p.T5T NAT6_ENST00000417393.1_5'UTR|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443842.1_5'UTR|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000443094.2_5'UTR NM_012191.3 NP_036323.2 N-acetyltransferase 6 (GCN5-related) endometrium(3)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CAGGGCTCAGAGTCAGCTCTT 0.602000 4 18 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 6004297 6004297 + Missense_Mutation SNP T T C TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr19:6004297T>C ENST00000303657.5 - 13 1564 c.1415A>G c.(1414-1416)cAg>cGg p.Q472R RFX2_ENST00000359161.3_Missense_Mutation_p.Q472R|RFX2_ENST00000592546.1_Missense_Mutation_p.Q447R|CTC-232P5.1_ENST00000587836.1_RNA NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 ACGGATGGCCTGTGTCAAGGT 0.532000 3 50 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21607304 21607304 + Missense_Mutation SNP A A G TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr19:21607304A>G ENST00000392288.2 + 4 1952 c.1843A>G c.(1843-1845)Atc>Gtc p.I615V ZNF493_ENST00000355504.4_Missense_Mutation_p.I487V|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 CCGATCTTCAATCCTTAGTAT 0.373000 4 56 0 0 1 0 0 SASH3 54440 broad.mit.edu 37 X 128927061 128927061 + Missense_Mutation SNP C C A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chrX:128927061C>A ENST00000356892.3 + 7 1012 c.898C>A c.(898-900)Cca>Aca p.P300T NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 300 SAM. breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 CATCATGGATCCACAGCACCG 0.587000 3 32 1 1 1 1 0 TTN 7273 broad.mit.edu 37 2 179449074 179449074 + Missense_Mutation SNP T T C TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr2:179449074T>C ENST00000589042.1 - 311 65428 c.65204A>G c.(65203-65205)tAt>tGt p.Y21735C TTN_ENST00000460472.2_Missense_Mutation_p.Y12670C|TTN_ENST00000342992.6_Missense_Mutation_p.Y19167C|TTN_ENST00000359218.5_Missense_Mutation_p.Y12795C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y20094C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y12862C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20094 Ig-like 114. 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) GTTTAGGGCATAGATTCTGAA 0.428000 6 97 0 0 1 0 0 SP4 6671 broad.mit.edu 37 7 21468304 21468306 + In_Frame_Del DEL AGG AGG - TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr7:21468304_21468306delAGG ENST00000222584.3 + 2 235_237 c.17_19delAGG c.(16-21)aag>a p.KE6del NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 6 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 GATCAGAAGAAGGAGGAGGAGGA 0.517 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100385562 100385596 + RNA DEL GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT - rs68029369 by1000genomes TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT ENST00000542585.1 + 0 7176_7210 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_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) ACATTTGACGGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATGTTCTGATCA 0.583 8 29 --- --- --- --- CTD-2008A1.2 0 broad.mit.edu 37 15 45123755 45123756 + RNA INS - - C rs11429544 TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chr15:45123755_45123756insC ENST00000561384.2 - 0 871_872 GGAGGCCTCTGCCCCGTGCACT 0.574 2 4 --- --- --- --- PDK3 5165 broad.mit.edu 37 X 24545741 24545741 + Frame_Shift_Del DEL C C - TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45c03982-3401-4737-b89c-b3a16aa6a7f4 1d53564b-d57c-4616-8950-9277fe4e08e5 g.chrX:24545741delC ENST00000441463.2 + 8 801 c.801delC c.(799-801)tafs p.Y267fs PDK3_ENST00000379162.4_Frame_Shift_Del_p.Y267fs NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 267 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 AAGAGGGCTACCCTGCTGTTA 0.338 2 4 --- --- --- ---