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 R3HDM2 22864 broad.mit.edu 37 12 57648881 57648881 + Missense_Mutation SNP A A G TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr12:57648881A>G ENST00000402412.1 - 24 3038 c.2648T>C c.(2647-2649)cTg>cCg p.L883P R3HDM2_ENST00000393811.2_Missense_Mutation_p.L596P|R3HDM2_ENST00000358907.2_Missense_Mutation_p.L869P|R3HDM2_ENST00000347140.3_Missense_Mutation_p.L869P|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.L564P|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Missense_Mutation_p.L903P Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 869 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TGTCACCTCCAGCACCCGCCC 0.587000 15 64 0 0 0.457914 0 0 FGG 2266 broad.mit.edu 37 4 155533709 155533709 + Nonsense_Mutation SNP A A T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr4:155533709A>T ENST00000404648.3 - 1 292 c.53T>A c.(52-54)tTa>tAa p.L18* FGG_ENST00000407946.1_Nonsense_Mutation_p.L18*|FGG_ENST00000405164.1_Nonsense_Mutation_p.L18*|FGG_ENST00000336098.3_Nonsense_Mutation_p.L18* NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 18 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AGAGAGAAATAAAAGAGCATA 0.403000 30 84 0 0 0.729181 0 0 MMP27 64066 broad.mit.edu 37 11 102575298 102575298 + Missense_Mutation SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr11:102575298G>A ENST00000260229.4 - 2 402 c.311C>T c.(310-312)cCt>cTt p.P104L NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 104 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) TCTCCACCCAGGGAGGGTGTA 0.473000 31 99 0 0 0.740014 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473127 22473127 + RNA SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr15:22473127G>T ENST00000557788.2 - 0 143 TACTACTGCTGATGGAGCCAC 0.622000 8 98 4.14922e-12 5.73568e-12 0.500413 1 0 SLC6A11 6538 broad.mit.edu 37 3 10980053 10980053 + Missense_Mutation SNP A A T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr3:10980053A>T ENST00000254488.2 + 14 1930 c.1864A>T c.(1864-1866)Atc>Ttc p.I622F NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 622 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TGACGGGACCATCGCAGCCAT 0.547000 20 48 0 0 0.575678 0 0 MSLN 10232 broad.mit.edu 37 16 815130 815130 + Silent SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr16:815130G>A ENST00000566549.1 + 8 948 c.531G>A c.(529-531)ctG>ctA p.L177L MSLN_ENST00000382862.3_Silent_p.L177L|MSLN_ENST00000545450.2_Silent_p.L177L|MSLN_ENST00000563941.1_Silent_p.L177L Q13421 MSLN_HUMAN mesothelin 177 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GGTCTCTGCTGAGCGAGGCTG 0.701000 26 14 0 0 0.717897 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 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 3 34 0 0 0.115264 0 0 KLRG2 346689 broad.mit.edu 37 7 139164916 139164916 + Missense_Mutation SNP T T A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr7:139164916T>A ENST00000340940.4 - 2 904 c.835A>T c.(835-837)Att>Ttt p.I279F KLRG2_ENST00000393039.2_Intron NM_198508.2 NP_940910.1 A4D1S0 KLRG2_HUMAN killer cell lectin-like receptor subfamily G, member 2 279 integral to membrane sugar binding central_nervous_system(1)|large_intestine(2)|lung(3) 6 Melanoma(164;0.233) AGGACCACAATGACAACCCCA 0.597000 30 49 0 0 0.769981 0 0 KCNQ1 3784 broad.mit.edu 37 11 2606480 2606480 + Missense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr11:2606480G>T ENST00000155840.5 + 8 1179 c.1071G>T c.(1069-1071)caG>caT p.Q357H KCNQ1_ENST00000335475.5_Missense_Mutation_p.Q230H NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 357 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) AGGTGCAGCAGAAGCAGAGGC 0.617000 20 111 0.000175454 0.000191776 0.592651 1 0 HSF2BP 11077 broad.mit.edu 37 21 45076580 45076580 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr21:45076580C>A ENST00000291560.2 - 3 406 c.75G>T c.(73-75)aaG>aaT p.K25N HSF2BP_ENST00000542962.1_Intron NM_007031.1 NP_008962.1 O75031 HSF2B_HUMAN heat shock transcription factor 2 binding protein 25 spermatogenesis|transcription from RNA polymerase II promoter cytosol binding kidney(2)|large_intestine(3)|prostate(1)|skin(1) 7 STAD - Stomach adenocarcinoma(101;0.18) CCAGATCCTTCTTTCTGACTT 0.383000 5 165 0.00307968 0.00321655 0.278610 1 0 FAM178A 55719 broad.mit.edu 37 10 102709854 102709854 + Missense_Mutation SNP C C T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr10:102709854C>T ENST00000238961.3 + 16 3290 c.3142C>T c.(3142-3144)Ctt>Ttt p.L1048F FAM178A_ENST00000370269.3_Missense_Mutation_p.L1048F NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 1048 ACATCGCTATCTTGTGCAGAT 0.348000 23 96 0 0 0.654019 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133613 91133613 + Missense_Mutation SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chrX:91133613G>A ENST00000373094.1 + 2 3219 c.2374G>A c.(2374-2376)Gca>Aca p.A792T PCDH11X_ENST00000395337.2_Missense_Mutation_p.A792T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A792T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A792T NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 792 Cadherin 7. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 AAGCACTGAAGCACCAGTGAC 0.458000 49 169 0 0 0.870114 0 0 PPEF1 5475 broad.mit.edu 37 X 18822154 18822154 + Nonsense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chrX:18822154G>T ENST00000361511.4 + 14 1704 c.1210G>T c.(1210-1212)Gaa>Taa p.E404* PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000544635.1_Nonsense_Mutation_p.E339*|PPEF1_ENST00000359763.6_Nonsense_Mutation_p.E351*|PPEF1_ENST00000543630.1_Intron NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 404 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity p.E404*(1) breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) CAGGTCTCATGAATGTAAGCC 0.418000 18 95 1.01871e-10 1.32999e-10 0.575678 1 0 TMOD3 29766 broad.mit.edu 37 15 52161504 52161504 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr15:52161504C>A ENST00000308580.7 + 3 498 c.217C>A c.(217-219)Ctg>Atg p.L73M TMOD3_ENST00000544199.1_Missense_Mutation_p.L73M NM_014547.4 NP_055362.1 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 73 cytoplasm|cytoskeleton actin binding|tropomyosin binding p.L73L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1) 14 all cancers(107;0.00194) CCTTTCATATCTGGAGAAAGA 0.458000 21 96 5.26018e-13 7.49177e-13 0.608945 1 0 PCDH1 5097 broad.mit.edu 37 5 141248675 141248675 + Missense_Mutation SNP C C T rs145360303 TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr5:141248675C>T ENST00000287008.3 - 2 509 c.362G>A c.(361-363)cGt>cAt p.R121H PCDH1_ENST00000456271.1_Missense_Mutation_p.R121H|PCDH1_ENST00000394536.3_Missense_Mutation_p.R121H|PCDH1_ENST00000536585.1_Missense_Mutation_p.R99H|PCDH1_ENST00000503492.1_Missense_Mutation_p.R121H NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 121 Cadherin 1. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CTGGCATTCACGGAGCCCCTC 0.592000 16 49 0 0 0.479597 0 0 SETD2 29072 broad.mit.edu 37 3 47164447 47164447 + Nonsense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr3:47164447G>T ENST00000409792.3 - 3 1721 c.1679C>A c.(1678-1680)tCa>tAa p.S560* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TATAGGTTTTGAAAGGGTAGA 0.348000 """N, F, S, Mis""" clear cell renal carcinoma 39 102 1.69901e-12 2.38369e-12 0.812448 1 0 PTPRR 5801 broad.mit.edu 37 12 71078029 71078029 + Nonsense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr12:71078029C>A ENST00000283228.2 - 10 1827 c.1375G>T c.(1375-1377)Gag>Tag p.E459* PTPRR_ENST00000440835.2_Nonsense_Mutation_p.E214*|PTPRR_ENST00000549308.1_Nonsense_Mutation_p.E214*|PTPRR_ENST00000378778.1_Nonsense_Mutation_p.E253*|PTPRR_ENST00000342084.4_Nonsense_Mutation_p.E347* NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 459 Tyrosine-protein phosphatase. in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AAGGCTTTCTCCTTGCCACTG 0.443000 16 48 2.23348e-06 2.69163e-06 0.500413 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 59 0 0 0.115264 0 0 HTR1D 3352 broad.mit.edu 37 1 23519762 23519762 + Missense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:23519762G>T ENST00000374619.1 - 1 1460 c.951C>A c.(949-951)ttC>ttA p.F317L HTR1D_ENST00000314113.3_Missense_Mutation_p.F317L NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 317 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) ACACCACGAAGAAGGGCAGCC 0.552000 5 104 0.00116845 0.00123409 0.217242 1 0 KIAA1324L 222223 broad.mit.edu 37 7 86536993 86536993 + Missense_Mutation SNP C C G TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr7:86536993C>G ENST00000450689.2 - 18 2736 c.2551G>C c.(2551-2553)Gtc>Ctc p.V851L KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V684L|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V780L|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V611L NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 851 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TACCTGGGGACTGAAATCACT 0.358000 6 105 0 0 0.248553 0 0 ATP6V0D1 9114 broad.mit.edu 37 16 67478511 67478511 + Missense_Mutation SNP C C T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr16:67478511C>T ENST00000290949.3 - 3 551 c.401G>A c.(400-402)aGc>aAc p.S134N ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.S57N|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.S175N NM_004691.4 NP_004682.2 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 134 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex large_intestine(3)|lung(3)|urinary_tract(2) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) CTGCTCGAAGCTGCCTAGTGG 0.572000 12 39 0 0 0.387290 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24523931 24523931 + Silent SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr20:24523931G>A ENST00000376862.3 + 2 831 c.198G>A c.(196-198)agG>agA p.R66R NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 66 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 ACAGCAGCAGGAGTGAGCCGA 0.647000 20 51 0 0 0.624587 0 0 CALD1 800 broad.mit.edu 37 7 134642982 134642982 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr7:134642982C>A ENST00000361388.2 + 11 1781 c.1315C>A c.(1315-1317)Caa>Aaa p.Q439K CALD1_ENST00000361901.2_Missense_Mutation_p.Q413K|CALD1_ENST00000543443.1_Missense_Mutation_p.Q418K|CALD1_ENST00000417172.1_Missense_Mutation_p.Q413K|CALD1_ENST00000422748.1_Missense_Mutation_p.Q438K|CALD1_ENST00000495522.1_Missense_Mutation_p.Q432K|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000393118.2_Missense_Mutation_p.Q433K|CALD1_ENST00000361675.2_Missense_Mutation_p.Q668K|CALD1_ENST00000424922.1_Missense_Mutation_p.Q407K NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 668 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 ATCGACCCATCAAGCAGCAAT 0.398000 9 206 9.70103e-10 1.24917e-09 0.361761 1 0 COMMD7 149951 broad.mit.edu 37 20 31292271 31292271 + Missense_Mutation SNP A A C TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr20:31292271A>C ENST00000446419.1 - 7 1061 c.445T>G c.(445-447)Ttg>Gtg p.L149V COMMD7_ENST00000278980.6_Missense_Mutation_p.L150V NM_001099339.1 NP_001092809.1 Q86VX2 COMD7_HUMAN COMM domain containing 7 150 COMM. negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway NF-kappaB binding breast(1)|endometrium(1)|lung(3) 5 ACTTTCTCCAATTCGCTGCTC 0.373000 6 14 0 0 0.217242 0 0 PLEC 5339 broad.mit.edu 37 8 144991470 144991470 + Silent SNP C C T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr8:144991470C>T ENST00000322810.4 - 32 13099 c.12930G>A c.(12928-12930)gaG>gaA p.E4310E PLEC_ENST00000398774.2_Silent_p.E4141E|PLEC_ENST00000354958.2_Silent_p.E4151E|PLEC_ENST00000436759.2_Silent_p.E4200E|PLEC_ENST00000356346.3_Silent_p.E4159E|PLEC_ENST00000357649.2_Silent_p.E4177E|PLEC_ENST00000345136.3_Silent_p.E4173E|PLEC_ENST00000354589.3_Silent_p.E4173E|PLEC_ENST00000527096.1_Silent_p.E4196E NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4310 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGCACTCCTGCTCGGACAGCT 0.622000 25 61 0 0 0.639603 0 0 PTPRN 5798 broad.mit.edu 37 2 220162639 220162639 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr2:220162639C>A ENST00000295718.2 - 13 2095 c.1855G>T c.(1855-1857)Ggg>Tgg p.G619W PTPRN_ENST00000409251.3_Missense_Mutation_p.G590W|PTPRN_ENST00000423636.2_Missense_Mutation_p.G529W NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 619 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CCATGGGCCCCCTCAGGCCCC 0.637000 8 19 5.18039e-06 6.08696e-06 0.278610 1 0 FSIP2 401024 broad.mit.edu 37 2 186673486 186673486 + Missense_Mutation SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr2:186673486G>A ENST00000343098.5 + 17 19720 c.19720G>A c.(19720-19722)Gtt>Att p.V6574I FSIP2_ENST00000424728.1_Missense_Mutation_p.V6485I NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AGAGCTAGACGTTAATAGAAT 0.323000 5 106 0 0 0.248553 0 0 OR2B11 127623 broad.mit.edu 37 1 247614975 247614975 + Missense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:247614975G>T ENST00000318749.6 - 1 333 c.310C>A c.(310-312)Caa>Aaa p.Q104K NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) ACTGCATATTGCACAGTGCAG 0.597000 39 113 9.85521e-28 1.59722e-27 0.819951 1 0 SYNJ2 8871 broad.mit.edu 37 6 158483043 158483043 + Missense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr6:158483043G>T ENST00000355585.4 + 8 1049 c.974G>T c.(973-975)tGc>tTc p.C325F SYNJ2_ENST00000367122.2_Missense_Mutation_p.C325F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.C325F|SYNJ2_ENST00000449859.2_Intron NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 325 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TGGGCTTCTTGCCACGCGGGC 0.562000 14 206 1.36491e-13 1.97387e-13 0.435327 1 0 INTS3 65123 broad.mit.edu 37 1 153723708 153723708 + Missense_Mutation SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:153723708G>A ENST00000456435.1 + 7 1290 c.104G>A c.(103-105)cGg>cAg p.R35Q INTS3_ENST00000435409.2_Missense_Mutation_p.R241Q|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000512605.1_Missense_Mutation_p.R35Q|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Missense_Mutation_p.R241Q Q68E01 INT3_HUMAN integrator complex subunit 3 242 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TCACTGCTTCGGGAACGGGTG 0.522000 3 64 0 0 0.115264 0 0 OR7D2 162998 broad.mit.edu 37 19 9296949 9296949 + Missense_Mutation SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr19:9296949G>A ENST00000344248.2 + 1 671 c.492G>A c.(490-492)atG>atA p.M164I NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 164 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 CTCTGATGATGCATCTAATCT 0.453000 47 196 0 0 0.870114 0 0 DNAH3 55567 broad.mit.edu 37 16 20999308 20999308 + Silent SNP A A G TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr16:20999308A>G ENST00000261383.3 - 45 6680 c.6681T>C c.(6679-6681)atT>atC p.I2227I DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2227 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCCAGTCAACAATCGAACTGA 0.443000 15 89 0 0 0.479597 0 0 PDZD4 57595 broad.mit.edu 37 X 153070051 153070051 + Missense_Mutation SNP C C T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chrX:153070051C>T ENST00000164640.4 - 8 1258 c.1067G>A c.(1066-1068)cGc>cAc p.R356H PDZD4_ENST00000393758.2_Missense_Mutation_p.R281H|PDZD4_ENST00000544474.1_Missense_Mutation_p.R247H NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 356 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCACGGTAGCGCTCATACTC 0.672000 27 45 0 0 0.693898 0 0 CDR1 1038 broad.mit.edu 37 X 139865791 139865791 + Missense_Mutation SNP C C G TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chrX:139865791C>G ENST00000370532.2 - 1 932 c.741G>C c.(739-741)tgG>tgC p.W247C NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 247 breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) TCCAGGTCTTCCAGTCAATCA 0.423000 59 201 0 0 0.870114 0 0 CELSR1 9620 broad.mit.edu 37 22 46792575 46792575 + Missense_Mutation SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr22:46792575G>A ENST00000262738.3 - 13 5769 c.5770C>T c.(5770-5772)Cgc>Tgc p.R1924C NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1924 EGF-like 6; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity p.R1924C(1) breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCGGGGGAGCGCACGCAGGCC 0.627000 9 25 0 0 0.307466 0 0 ACE2 59272 broad.mit.edu 37 X 15618974 15618974 + Missense_Mutation SNP T T C TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chrX:15618974T>C ENST00000427411.1 - 2 277 c.61A>G c.(61-63)Att>Gtt p.I21V ACE2_ENST00000252519.3_Missense_Mutation_p.I21V NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 21 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) TGTTCCTCAATGGTGGACTGA 0.453000 5 136 0 0 0.184627 0 0 ADAM15 8751 broad.mit.edu 37 1 155026908 155026908 + Missense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:155026908G>T ENST00000356955.2 + 6 639 c.538G>T c.(538-540)Gcc>Tcc p.A180S ADAM15_ENST00000360674.4_Missense_Mutation_p.A180S|ADAM15_ENST00000271836.6_Missense_Mutation_p.A180S|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.A180S|ADAM15_ENST00000359280.4_Missense_Mutation_p.A180S|ADAM15_ENST00000368412.3_Missense_Mutation_p.A180S|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000355956.2_Missense_Mutation_p.A180S|ADAM15_ENST00000447332.3_Missense_Mutation_p.A164S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.A190S NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 180 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCACACCTGTGCCCTGAGCTG 0.622000 42 133 2.13384e-23 3.34301e-23 0.870114 1 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 3 25 0 0 0.150653 0 0 NBPF12 149013 broad.mit.edu 37 1 146397414 146397414 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:146397414C>A ENST00000442909.2 + 6 1067 c.231C>A c.(229-231)ttC>ttA p.F77L NBPF12_ENST00000446760.2_Missense_Mutation_p.F77L|NBPF12_ENST00000309471.8_Intron neuroblastoma breakpoint family, member 12 ovary(2) 2 AGCGACAGTTCAAGGAGGAGA 0.517000 43 211 2.68985e-26 4.28552e-26 0.870114 1 0 PTAFR 5724 broad.mit.edu 37 1 28477382 28477382 + Nonsense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:28477382C>A ENST00000373857.3 - 2 785 c.151G>T c.(151-153)Gag>Tag p.E51* PTAFR_ENST00000305392.3_Nonsense_Mutation_p.E51*|PTAFR_ENST00000539896.1_Nonsense_Mutation_p.E51* NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 51 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) ATCTTTATCTCATTGAATTTC 0.483000 3 28 0.004672 0.00482602 0.115264 1 0 NLRP14 338323 broad.mit.edu 37 11 7064624 7064624 + Missense_Mutation SNP A A C TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr11:7064624A>C ENST00000299481.4 + 4 1713 c.1367A>C c.(1366-1368)gAt>gCt p.D456A NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 456 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ACTCAATCTGATGTCTCTAGT 0.418000 25 118 0 0 0.681144 0 0 LACC1 144811 broad.mit.edu 37 13 44456457 44456457 + Silent SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr13:44456457G>T ENST00000441843.1 + 3 1184 c.699G>T c.(697-699)gcG>gcT p.A233A LACC1_ENST00000325686.6_Silent_p.A233A NM_001128303.1 NP_001121775.1 Q8IV20 CM031_HUMAN laccase (multicopper oxidoreductase) domain containing 1 233 GTAGGTTGGCGAATGCTGCAG 0.338000 4 48 1.23904e-05 1.38654e-05 0.184627 1 0 PLEC 5339 broad.mit.edu 37 8 144991469 144991469 + Nonsense_Mutation SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr8:144991469G>A ENST00000322810.4 - 32 13100 c.12931C>T c.(12931-12933)Cag>Tag p.Q4311* PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q4142*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q4152*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q4201*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q4160*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q4178*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q4174*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q4174*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q4197* NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4311 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCGCACTCCTGCTCGGACAGC 0.617000 26 61 0 0 0.654019 0 0 TTN 7273 broad.mit.edu 37 2 179433734 179433734 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr2:179433734C>A ENST00000589042.1 - 326 77349 c.77125G>T c.(77125-77127)Gat>Tat p.D25709Y TTN_ENST00000342175.6_Missense_Mutation_p.D16836Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23141Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24068Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16644Y|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16769Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24068 Ig-like 125. 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) CTGGTGACATCATCCACAGTT 0.438000 29 137 4.87955e-14 7.16685e-14 0.693898 1 0 AZU1 566 broad.mit.edu 37 19 831827 831827 + Nonsense_Mutation SNP C C T rs112572343 TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr19:831827C>T ENST00000233997.2 + 5 727 c.706C>T c.(706-708)Cga>Tga p.R236* NM_001700.3 NP_001691.1 P20160 CAP7_HUMAN azurocidin 1 236 Peptidase S1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGCTCTTCCGAGACTGGAT 0.701000 8 90 0 0 0.335167 0 0 AOC2 314 broad.mit.edu 37 17 41002100 41002100 + Splice_Site SNP A A G TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr17:41002100A>G ENST00000253799.3 + 4 2033 c.2004_splice c.e4-1 p.D669_splice AOC2_ENST00000452774.2_Splice_Site_p.D642_splice NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 669 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity p.D669V(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) TTCTTGCAGGATCTGGTGGCT 0.562000 128 92 0 0 0.870114 0 0 FAM103A1 83640 broad.mit.edu 37 15 83657865 83657865 + Missense_Mutation SNP G G A rs150238339 TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr15:83657865G>A ENST00000304191.3 + 3 316 c.95G>A c.(94-96)cGc>cAc p.R32H C15orf40_ENST00000538348.2_Silent_p.G137G|RP11-382A20.5_ENST00000566841.1_RNA NM_031452.3 NP_113640.1 Q9BTL3 F103A_HUMAN family with sequence similarity 103, member A1 32 prostate(1) 1 TACCTGAAACGCCCTCCTGAG 0.428000 7 66 0 0 0.248553 0 0 PSG7 5676 broad.mit.edu 37 19 43439634 43439634 + RNA SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr19:43439634C>A ENST00000406070.2 - 0 448 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GTGTAGGATCCTGTGTCTTCC 0.458000 91 318 3.29526e-42 5.43429e-42 0.870114 1 0 KHK 3795 broad.mit.edu 37 2 27317365 27317365 + Missense_Mutation SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr2:27317365G>A ENST00000260599.6 + 3 743 c.230G>A c.(229-231)cGc>cAc p.R77H KHK_ENST00000260598.5_Intron|KHK_ENST00000490823.1_3'UTR NM_000221.2 NP_000212.1 P50053 KHK_HUMAN ketohexokinase (fructokinase) 77 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATGACCTCCGCCGCTATTCT 0.597000 19 79 0 0 0.539581 0 0 HERC1 8925 broad.mit.edu 37 15 63961829 63961829 + Missense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr15:63961829G>T ENST00000443617.2 - 40 8201 c.8114C>A c.(8113-8115)tCt>tAt p.S2705Y NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2705 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TGGTAACGAAGATATTGGAGG 0.458000 14 128 9.31168e-06 1.05458e-05 0.435327 1 0 CXorf22 170063 broad.mit.edu 37 X 35993323 35993323 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chrX:35993323C>A ENST00000297866.5 + 14 2380 c.2314C>A c.(2314-2316)Cat>Aat p.H772N NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 772 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TCATCTACTTCATGTTATTAA 0.328000 30 134 7.01153e-11 9.28288e-11 0.717897 1 0 ATR 545 broad.mit.edu 37 3 142177883 142177883 + Missense_Mutation SNP C C T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr3:142177883C>T ENST00000350721.4 - 44 7541 c.7420G>A c.(7420-7422)Gga>Aga p.G2474R ATR_ENST00000383101.3_Missense_Mutation_p.G2410R NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2474 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TGACGGTCTCCAAGCCCCAGA 0.373000 Other conserved DNA damage response genes 27 57 0 0 0.681144 0 0 SIRT7 51547 broad.mit.edu 37 17 79875967 79875967 + Missense_Mutation SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr17:79875967G>A ENST00000328666.6 - 1 103 c.41C>T c.(40-42)gCg>gTg p.A14V NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 14 Arg-rich. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GACCCGCTCCGCCGCTTTGCG 0.776000 30 16 0 0 0.760397 0 0 ZNF479 90827 broad.mit.edu 37 7 57188556 57188556 + Missense_Mutation SNP T T G TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr7:57188556T>G ENST00000331162.4 - 5 836 c.566A>C c.(565-567)aAa>aCa p.K189T NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTTGCCATATTTGTTACATTT 0.299000 10 41 0 0 0.457914 0 0 WASF2 10163 broad.mit.edu 37 1 27745564 27745564 + Silent SNP T T C TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:27745564T>C ENST00000430629.2 - 3 371 c.156A>G c.(154-156)ggA>ggG p.G52G WASF2_ENST00000536657.1_Silent_p.G52G NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 52 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) TAAAGAGCTCTCCAAAAATGT 0.453000 36 52 0 0 0.812448 0 0 SYNE2 23224 broad.mit.edu 37 14 64445691 64445691 + Missense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr14:64445691G>T ENST00000358025.3 + 14 1758 c.1528G>T c.(1528-1530)Ggg>Tgg p.G510W SYNE2_ENST00000554584.1_Missense_Mutation_p.G510W|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.G510W NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 510 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CATTAAATATGGGAGCAGAGA 0.358000 11 105 2.27111e-07 2.77252e-07 0.411799 1 0 ANKRD27 84079 broad.mit.edu 37 19 33149883 33149883 + Missense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr19:33149883G>T ENST00000306065.4 - 2 197 c.39C>A c.(37-39)ttC>ttA p.F13L ANKRD27_ENST00000587352.1_Missense_Mutation_p.F13L|ANKRD27_ENST00000586693.2_5'UTR NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 13 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) GAGCCAGATAGAAAGGATTTT 0.498000 4 64 0.150653 0.152273 0.150653 1 0 VWF 7450 broad.mit.edu 37 12 6094833 6094833 + Splice_Site SNP T T C TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr12:6094833T>C ENST00000261405.5 - 39 7053 c.e39-2 NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TTCCAGGAACTGAGGGCAAAG 0.627000 8 25 0 0 0.307466 0 0 THNSL1 79896 broad.mit.edu 37 10 25313297 25313297 + Missense_Mutation SNP C C T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr10:25313297C>T ENST00000524413.1 + 3 1492 c.1145C>T c.(1144-1146)aCa>aTa p.T382I THNSL1_ENST00000376356.4_Missense_Mutation_p.T382I Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 382 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) TCAGGAGACACAGGGAGTGCA 0.358000 20 94 0 0 0.608945 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369824 86369824 + Nonsense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr13:86369824C>A ENST00000400286.2 - 2 1418 c.820G>T c.(820-822)Gaa>Taa p.E274* NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 274 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TCATGTTCTTCATACACTGGT 0.393000 30 47 3.73988e-18 5.67015e-18 0.706142 1 0 GP2 2813 broad.mit.edu 37 16 20334206 20334206 + Missense_Mutation SNP C C T rs143098544 TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr16:20334206C>T ENST00000302555.5 - 4 780 c.631G>A c.(631-633)Gac>Aac p.D211N GP2_ENST00000341642.5_Missense_Mutation_p.D64N|GP2_ENST00000381360.5_Missense_Mutation_p.D67N|GP2_ENST00000381362.4_Missense_Mutation_p.D214N|GP2_ENST00000573897.1_5'UTR P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 214 EGF-like. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CTATTGAGGTCCTGTCTGCAG 0.577000 20 105 0 0 0.654019 0 0 NEB 4703 broad.mit.edu 37 2 152471015 152471015 + Silent SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr2:152471015G>T ENST00000397345.3 - 77 11578 c.11376C>A c.(11374-11376)tcC>tcA p.S3792S NEB_ENST00000603639.1_Silent_p.S3792S|NEB_ENST00000604864.1_Silent_p.S3792S|NEB_ENST00000409198.1_Silent_p.S3549S|NEB_ENST00000172853.10_Silent_p.S3549S|NEB_ENST00000427231.2_Silent_p.S3792S NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3792 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CCACATGGATGGACCACATCA 0.507000 7 261 5.18039e-06 6.08696e-06 0.278610 1 0 ANKRD1 27063 broad.mit.edu 37 10 92679010 92679010 + Silent SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr10:92679010G>A ENST00000371697.3 - 3 471 c.223C>T c.(223-225)Cta>Tta p.L75L NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) 75 cellular lipid metabolic process|defense response|signal transduction DNA binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) CTTTGTTCTAGTTTTTTCTTT 0.299000 6 17 0 0 0.217242 0 0 GSN 2934 broad.mit.edu 37 9 124062285 124062285 + Splice_Site SNP T T G TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr9:124062285T>G ENST00000373818.4 + 1 213 c.e1+2 GSN_ENST00000412819.1_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron NM_000177.4|NM_001258029.1 NP_000168.1|NP_001244958.1 P06396 GELS_HUMAN gelsolin actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 gaggcgcgggtgagtgcccgg 0.697000 7 23 0 0 0.387290 0 0 VPS13A 23230 broad.mit.edu 37 9 79985485 79985485 + Silent SNP C C T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr9:79985485C>T ENST00000360280.3 + 65 9158 c.8898C>T c.(8896-8898)ggC>ggT p.G2966G VPS13A_ENST00000376634.4_Silent_p.G2966G|VPS13A_ENST00000376636.3_Silent_p.G2927G|VPS13A_ENST00000357409.5_Silent_p.G2966G NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2966 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GAGGAAAAGGCTTAGTTTCTG 0.388000 13 57 0 0 0.500413 0 0 AMER1 139285 broad.mit.edu 37 X 63410669 63410669 + Missense_Mutation SNP T T A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chrX:63410669T>A ENST00000330258.3 - 2 2770 c.2498A>T c.(2497-2499)gAt>gTt p.D833V AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GGCTGCAAGATCTTCATCATT 0.522000 13 13 0 0 0.457914 0 0 KIF1B 23095 broad.mit.edu 37 1 10364544 10364544 + Missense_Mutation SNP T T A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:10364544T>A ENST00000377093.4 + 21 3454 c.3301T>A c.(3301-3303)Tgt>Agt p.C1101S KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.C1101S|KIF1B_ENST00000377086.1_Intron NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TCAGTCTTACTGTAATTATAA 0.502000 27 34 0 0 0.667858 0 0 XRRA1 143570 broad.mit.edu 37 11 74563054 74563054 + Missense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr11:74563054G>T ENST00000340360.6 - 13 1551 c.1220C>A c.(1219-1221)cCt>cAt p.P407H XRRA1_ENST00000321448.8_Missense_Mutation_p.P132H|XRRA1_ENST00000527087.1_Intron NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 407 response to X-ray cytoplasm|nucleus breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 GGCCACCAGAGGGTTGTTATG 0.537000 8 99 0.000157383 0.000174047 0.278610 1 0 SYNE1 23345 broad.mit.edu 37 6 152784523 152784523 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr6:152784523C>A ENST00000367255.5 - 19 2663 c.2062G>T c.(2062-2064)Ggg>Tgg p.G688W SYNE1_ENST00000413186.2_Missense_Mutation_p.G688W|SYNE1_ENST00000448038.1_Missense_Mutation_p.G695W|SYNE1_ENST00000367248.3_Missense_Mutation_p.G678W|SYNE1_ENST00000423061.1_Missense_Mutation_p.G695W|SYNE1_ENST00000495090.2_Missense_Mutation_p.G255W|SYNE1_ENST00000466159.2_Missense_Mutation_p.G688W|SYNE1_ENST00000341594.5_Missense_Mutation_p.G695W|SYNE1_ENST00000367253.4_Missense_Mutation_p.G688W|SYNE1_ENST00000265368.4_Missense_Mutation_p.G688W NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 688 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCCACCGCCCATTTAGCAAC 0.418000 HNSCC(10;0.0054) 23 34 1.96895e-08 2.5011e-08 0.639603 1 0 PLOD3 8985 broad.mit.edu 37 7 100859716 100859716 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr7:100859716C>A ENST00000223127.3 - 3 711 c.313G>T c.(313-315)Gat>Tat p.D105Y NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 105 protein modification process rough endoplasmic reticulum membrane 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-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) ATGATCATATCCTCCCGGTCA 0.572000 19 72 0.00074312 0.000802911 0.539581 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 72 0 0 0.115264 0 0 VAV1 7409 broad.mit.edu 37 19 6853974 6853974 + Nonsense_Mutation SNP T T G TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr19:6853974T>G ENST00000304076.2 + 25 2377 c.2283T>G c.(2281-2283)taT>taG p.Y761* VAV1_ENST00000602142.1_Nonsense_Mutation_p.Y783*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.Y728*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.Y751*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.Y686* NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 783 SH2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GCACAAAGTATTTTGGCACAG 0.527000 31 86 0 0 0.788014 0 0 TTN 7273 broad.mit.edu 37 2 179447818 179447818 + Silent SNP T T A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr2:179447818T>A ENST00000589042.1 - 313 65936 c.65712A>T c.(65710-65712)ctA>ctT p.L21904L TTN_ENST00000342175.6_Silent_p.L13031L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.L19336L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L20263L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.L12839L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.L12964L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20263 Fibronectin type-III 59. 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) CTGCTGGTTTTAGCAGTGTGC 0.458000 4 24 0 0 0.150653 0 0 SETD2 29072 broad.mit.edu 37 3 47163797 47163797 + Nonsense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr3:47163797C>A ENST00000409792.3 - 3 2371 c.2329G>T c.(2329-2331)Gaa>Taa p.E777* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 777 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCAACTGGTTCTTTAACTACT 0.398000 """N, F, S, Mis""" clear cell renal carcinoma 12 106 5.50884e-06 6.39297e-06 0.411799 1 0 ECE1 1889 broad.mit.edu 37 1 21584023 21584023 + Nonsense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:21584023C>A ENST00000415912.2 - 7 900 c.775G>T c.(775-777)Gag>Tag p.E259* ECE1_ENST00000374893.6_Nonsense_Mutation_p.E275*|ECE1_ENST00000357071.4_Nonsense_Mutation_p.E263*|ECE1_ENST00000264205.6_Nonsense_Mutation_p.E272*|ECE1_ENST00000436918.2_Nonsense_Mutation_p.E275* NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 275 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) CTTACCTTCTCGTTTTCAGTT 0.577000 4 42 0.150653 0.152273 0.150653 1 0 MEGF11 84465 broad.mit.edu 37 15 66249960 66249960 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr15:66249960C>A ENST00000409699.2 - 10 1384 c.1212G>T c.(1210-1212)caG>caT p.Q404H MEGF11_ENST00000360698.4_Missense_Mutation_p.Q404H|MEGF11_ENST00000288745.3_Missense_Mutation_p.Q329H|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.Q404H|MEGF11_ENST00000395625.2_Missense_Mutation_p.Q329H A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 404 EGF-like 7. basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 TGCAAGGCAGCTGGCAGCCAT 0.617000 22 34 4.54149e-19 6.99835e-19 0.624587 1 0 MMEL1 79258 broad.mit.edu 37 1 2530166 2530166 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:2530166C>A ENST00000288709.6 - 12 1318 c.1078G>T c.(1078-1080)Gat>Tat p.D360Y MMEL1_ENST00000502556.1_Missense_Mutation_p.D212Y|MMEL1_ENST00000378412.3_Missense_Mutation_p.D369Y NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 369 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) ACTTCCTCATCTGGCAGCAGC 0.512000 13 33 9.31168e-06 1.05458e-05 0.435327 1 0 TLR8 51311 broad.mit.edu 37 X 12938993 12938993 + Nonsense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chrX:12938993G>T ENST00000218032.6 + 2 1921 c.1834G>T c.(1834-1836)Gaa>Taa p.E612* TLR8_ENST00000311912.5_Nonsense_Mutation_p.E630* NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 612 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GTCCCTGGTAGAATTAGTTTT 0.343000 13 171 6.72482e-11 9.03048e-11 0.479597 1 0 BPTF 2186 broad.mit.edu 37 17 65972039 65972039 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr17:65972039C>A ENST00000321892.4 + 29 9130 c.9069C>A c.(9067-9069)ttC>ttA p.F3023L BPTF_ENST00000335221.5_Missense_Mutation_p.F2880L|BPTF_ENST00000306378.6_Missense_Mutation_p.F2897L|BPTF_ENST00000424123.3_Missense_Mutation_p.F2741L Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 3023 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TCGAATCATTCTTTGTACAGA 0.383000 6 168 0.00116845 0.00123409 0.217242 1 0 ABCC8 6833 broad.mit.edu 37 11 17464293 17464293 + Missense_Mutation SNP G G A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr11:17464293G>A ENST00000302539.4 - 10 1729 c.1604C>T c.(1603-1605)gCc>gTc p.A535V ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000389817.3_Missense_Mutation_p.A535V NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 535 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GATGGCAAAGGCCCTGAGGCT 0.602000 26 66 0 0 0.681144 0 0 BCL9L 283149 broad.mit.edu 37 11 118771969 118771969 + Missense_Mutation SNP A A T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr11:118771969A>T ENST00000334801.3 - 6 3447 c.2483T>A c.(2482-2484)gTg>gAg p.V828E BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 828 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCCGCCCATCACGCCACTGCT 0.647000 30 86 0 0 0.750413 0 0 ABCA8 10351 broad.mit.edu 37 17 66878093 66878093 + Missense_Mutation SNP C C A TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr17:66878093C>A ENST00000269080.2 - 29 3874 c.3737G>T c.(3736-3738)cGc>cTc p.R1246L ABCA8_ENST00000430352.2_Missense_Mutation_p.R1286L|ABCA8_ENST00000586539.1_Missense_Mutation_p.R1286L NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1246 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) ATACTCCTTGCGTAGACAGCT 0.408000 22 156 6.21321e-17 9.27051e-17 0.639603 1 0 ZSCAN18 65982 broad.mit.edu 37 19 58596705 58596705 + Missense_Mutation SNP C C T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr19:58596705C>T ENST00000240727.6 - 7 1279 c.880G>A c.(880-882)Gag>Aag p.E294K ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E158K|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E294K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E350K NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 294 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGGGCGGCCTCCTCGCAGGCG 0.736000 4 20 0 0 0.150653 0 0 TACC2 10579 broad.mit.edu 37 10 123987406 123987406 + Silent SNP T T C TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr10:123987406T>C ENST00000369005.1 + 14 8119 c.7779T>C c.(7777-7779)caT>caC p.H2593H TACC2_ENST00000369001.1_Silent_p.H297H|TACC2_ENST00000358010.1_Silent_p.H739H|TACC2_ENST00000453444.2_Silent_p.H2597H|TACC2_ENST00000368999.1_Silent_p.H683H|TACC2_ENST00000515603.1_Silent_p.H2548H|TACC2_ENST00000513429.1_Silent_p.H739H|TACC2_ENST00000369004.3_Silent_p.H683H|TACC2_ENST00000369000.1_Silent_p.H293H|TACC2_ENST00000260733.3_Silent_p.H671H|TACC2_ENST00000360561.3_Silent_p.H671H|TACC2_ENST00000515273.1_Silent_p.H2597H|TACC2_ENST00000334433.3_Silent_p.H2593H NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2593 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AAAACCAGCATCCTGTCCCAC 0.532000 32 94 0 0 0.750413 0 0 ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 3 5 --- --- --- --- CD2 914 broad.mit.edu 37 1 117307204 117307204 + Frame_Shift_Del DEL A A - TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr1:117307204delA ENST00000369478.3 + 4 820 c.712delA c.(712-714)aafs p.K239fs NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 239 blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) CACCAAAAGGAAAAAACAGAG 0.493 11 44 --- --- --- --- NPHP3 27031 broad.mit.edu 37 3 132401619 132401619 + Frame_Shift_Del DEL T T - TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr3:132401619delT ENST00000337331.5 - 26 3826 c.3740delA c.(3739-3741)agfs p.K1247fs NPHP3_ENST00000326682.8_3'UTR NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 1247 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTCATAAATCTTTAATGCTCT 0.333 30 125 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137886050 137886050 + Frame_Shift_Del DEL A A - TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr3:137886050delA ENST00000260803.4 - 5 740 c.587delT c.(586-588)tcfs p.F196fs DBR1_ENST00000505015.2_5'UTR NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 196 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTCTTGTCGGAAAAAAGATTT 0.373 14 82 --- --- --- --- BTF3 689 broad.mit.edu 37 5 72801044 72801047 + Frame_Shift_Del DEL CCAA CCAA - TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr5:72801044_72801047delCCAA ENST00000380591.3 + 6 821_824 c.602_605delCCAA c.(601-606)tgfs p.SK201fs BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Frame_Shift_Del_p.SK157fs NM_001037637.1 NP_001032726.1 P20290 BTF3_HUMAN basic transcription factor 3 201 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding endometrium(1)|large_intestine(2)|lung(2) 5 Lung NSC(167;0.00405)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;2.73e-54) GATGAGGCTTCCAAGAATGAGGCA 0.314 25 54 --- --- --- --- ANKRD26 22852 broad.mit.edu 37 10 27355434 27355434 + Frame_Shift_Del DEL T T - TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr10:27355434delT ENST00000376087.4 - 11 1416 c.1251delA c.(1249-1251)gafs p.E417fs ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.E466fs NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 417 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 CCCAAGGTGATTCTATATCTT 0.299 27 58 --- --- --- --- PRKG1 5592 broad.mit.edu 37 10 54042044 54042044 + Frame_Shift_Del DEL G G - TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr10:54042044delG ENST00000373980.4 + 14 2094 c.1677delG c.(1675-1677)ctfs p.L559fs PRKG1_ENST00000373975.2_Frame_Shift_Del_p.L262fs|PRKG1_ENST00000401604.2_Frame_Shift_Del_p.L544fs|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Frame_Shift_Del_p.L532fs|PRKG1-AS1_ENST00000452247.2_RNA NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 544 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) ACTGGTCACTGGGAATCCTAA 0.448 17 66 --- --- --- --- RRP12 23223 broad.mit.edu 37 10 99130679 99130679 + Splice_Site DEL C C - TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr10:99130679delC ENST00000370992.4 - 21 2614 c.e21+1 RRP12_ENST00000414986.1_Splice_Site|RRP12_ENST00000536831.1_Splice_Site|RRP12_ENST00000479481.1_Splice_Site|RRP12_ENST00000315563.6_Splice_Site NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) AGAGCCCTCACCCTCTTGGCG 0.652 21 52 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 8 468 --- --- --- --- MAZ 4150 broad.mit.edu 37 16 29821427 29821450 + In_Frame_Del DEL GCAGCGGCAGCGGCGGCAGCGGCA GCAGCGGCAGCGGCGGCAGCGGCA - rs78764184 TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr16:29821427_29821450delGCAGCGGCAGCGGCGGCAGCGGCA ENST00000322945.6 + 5 1474_1497 c.1309_1332delGCAGCGGCAGCGGCGGCAGCGGCA c.(1309-1332)del p.AAAAAAAA437del MAZ_ENST00000545521.1_In_Frame_Del_p.AAAAAAAA414del|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000563402.1_Splice_Site_p.G94_splice|MAZ_ENST00000568282.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000566906.2_Splice_Site_p.G94_splice|MAZ_ENST00000568544.1_In_Frame_Del_p.AAAAAAAA38del|MAZ_ENST00000562337.1_In_Frame_Del_p.AAAAAAAA132del NM_002383.2 NP_002374.2 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 437 Poly-Ala. regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 AATggcggcggcagcggcagcggcggcagcggcagcagcggcag 0.661 12 106 --- --- --- --- RAVER1 125950 broad.mit.edu 37 19 10431728 10431728 + Frame_Shift_Del DEL G G - TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr19:10431728delG ENST00000293677.6 - 8 1601 c.1520delC c.(1519-1521)ctfs p.P507fs NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 516 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CCTTACCCCAGGGGGCGTCGG 0.726 5 11 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525235 43525252 + In_Frame_Del DEL TGCTGCTGGCGCTGCTGC TGCTGCTGGCGCTGCTGC - rs140238366 TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c044e9e-8d38-4f35-823c-82f883ebd03f ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9 g.chr22:43525235_43525252delTGCTGCTGGCGCTGCTGC ENST00000216115.2 + 5 470_487 c.407_424delTGCTGCTGGCGCTGCTGC c.(406-426)gtg>g p.VLLALLL136del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 136 apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) TGCGAACAGGtgctgctggcgctgctgctgctgctggc 0.711 12 84 --- --- --- ---