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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 10 73 0 0 1 0 0 XRRA1 143570 broad.mit.edu 37 11 74559225 74559225 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:74559225G>A ENST00000340360.6 - 15 1970 c.1639C>T c.(1639-1641)Cgc>Tgc p.R547C XRRA1_ENST00000527087.1_Missense_Mutation_p.R460C|XRRA1_ENST00000321448.8_Missense_Mutation_p.R272C NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 547 response to X-ray cytoplasm|nucleus breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 GGGCTGAGGCGGACAGTTGTG 0.592000 42 128 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 7 448 0 0 1 0 0 SLC38A8 146167 broad.mit.edu 37 16 84056458 84056458 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:84056458G>A ENST00000299709.3 - 6 726 c.727C>T c.(727-729)Cgc>Tgc p.R243C NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 243 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CTCCGTTTGCGCATGCTGCAG 0.597000 27 107 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 7 1242 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63908760 63908760 + Missense_Mutation SNP C C A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:63908760C>A ENST00000443617.2 - 75 13897 c.13810G>T c.(13810-13812)Gtg>Ttg p.V4604L NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4604 HECT. 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 TGCTTCCACACCAGAGGGGCC 0.502000 54 180 5.99346e-17 6.48205e-17 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 15 369 0 0 1 0 0 POLR3E 55718 broad.mit.edu 37 16 22330215 22330215 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:22330215C>T ENST00000299853.5 + 13 1101 c.934C>T c.(934-936)Cgg>Tgg p.R312W POLR3E_ENST00000359210.4_Missense_Mutation_p.R312W|POLR3E_ENST00000564209.1_Missense_Mutation_p.R312W|POLR3E_ENST00000418581.2_Missense_Mutation_p.R276W NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 312 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) GGCTGTTCTGCGGGGCATCCA 0.478000 7 560 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53045690 53045690 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr8:53045690C>T ENST00000276480.7 - 21 3054 c.2371G>A c.(2371-2373)Gga>Aga p.G791R NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 791 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CGAGGGCATCCGGACAAGCTG 0.463000 127 417 0 0 1 0 0 ATG10 83734 broad.mit.edu 37 5 81474399 81474399 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr5:81474399C>T ENST00000282185.3 + 5 740 c.446C>T c.(445-447)aCg>aTg p.T149M ATG10_ENST00000458350.3_Missense_Mutation_p.T149M|ATG10_ENST00000513634.1_Missense_Mutation_p.T149M|ATG10_ENST00000514253.2_3'UTR NM_031482.4 NP_113670.1 Q9H0Y0 ATG10_HUMAN autophagy related 10 149 autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport cytoplasm Atg12 ligase activity|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2) 9 Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30) GACACTATTACGCAACAGGTT 0.433000 7 241 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155449582 155449582 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:155449582C>T ENST00000368346.3 - 3 3718 c.3079G>A c.(3079-3081)Gcc>Acc p.A1027T ASH1L_ENST00000392403.3_Missense_Mutation_p.A1027T Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1027 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CCAAATGTGGCAGCAAGACTT 0.368000 104 298 0 0 1 0 0 EPB41 2035 broad.mit.edu 37 1 29314224 29314224 + Missense_Mutation SNP C C A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:29314224C>A ENST00000343067.4 + 2 402 c.275C>A c.(274-276)tCt>tAt p.S92Y EPB41_ENST00000373798.1_Missense_Mutation_p.S92Y|EPB41_ENST00000398863.2_Missense_Mutation_p.S92Y|EPB41_ENST00000373797.1_Missense_Mutation_p.S92Y|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.S92Y|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.S92Y NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 92 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AGGCCCAAATCTCAGGTGTCC 0.443000 134 382 1.73943e-47 1.92304e-47 1 1 0 SMAD4 4089 broad.mit.edu 37 18 48575093 48575093 + Missense_Mutation SNP C C A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr18:48575093C>A ENST00000342988.3 + 3 825 c.287C>A c.(286-288)gCc>gAc p.A96D SMAD4_ENST00000588745.1_Missense_Mutation_p.A96D|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.A96D|SMAD4_ENST00000398417.2_Missense_Mutation_p.A96D NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 96 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(4) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GTGATCTATGCCCGTCTCTGG 0.368000 35 154 2.2871e-25 2.50073e-25 1 1 0 AC022596.6 0 broad.mit.edu 37 17 16725734 16725734 + RNA SNP C C T rs62074114 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:16725734C>T ENST00000417510.1 - 0 159 GAgccgcccccgatgccgccc 0.692000 10 54 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2857619 2857619 + Silent SNP G G A rs141445155 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr8:2857619G>A ENST00000602557.1 - 54 8622 c.8067C>T c.(8065-8067)aaC>aaT p.N2689N CSMD1_ENST00000542608.1_Silent_p.N2630N|CSMD1_ENST00000537824.1_Silent_p.N2688N|CSMD1_ENST00000520002.1_Silent_p.N2689N|CSMD1_ENST00000602723.1_Silent_p.N2631N|CSMD1_ENST00000400186.3_Silent_p.N2631N Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2689 Sushi 18. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TAATGTGACCGTTCACAATCG 0.443000 5 249 0 0 1 0 0 ZNF569 148266 broad.mit.edu 37 19 37905084 37905084 + Missense_Mutation SNP A A T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:37905084A>T ENST00000316950.6 - 6 1033 c.476T>A c.(475-477)cTt>cAt p.L159H ZNF569_ENST00000392149.2_Missense_Mutation_p.L159H|ZNF569_ENST00000392150.2_5'UTR NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTTCTCATAAGGCATTTCAC 0.333000 42 240 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32171920 32171920 + Missense_Mutation SNP G G C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr6:32171920G>C ENST00000375023.3 - 19 3250 c.3112C>G c.(3112-3114)Cac>Gac p.H1038D NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1038 EGF-like 26. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TCACCTGTGTGTCCAGGCAGA 0.622000 32 62 0 0 1 0 0 INPP4A 3631 broad.mit.edu 37 2 99163121 99163121 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:99163121G>A ENST00000074304.5 + 13 1520 c.1127G>A c.(1126-1128)cGc>cAc p.R376H INPP4A_ENST00000523221.1_Missense_Mutation_p.R376H|INPP4A_ENST00000409540.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R376H|INPP4A_ENST00000545415.1_Missense_Mutation_p.R376H|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Missense_Mutation_p.R376H NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 376 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 GGAGGTCTCCGCAAAAAGCTG 0.458000 4 185 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26173733 26173733 + Missense_Mutation SNP G G C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr22:26173733G>C ENST00000335473.7 + 8 2303 c.2053G>C c.(2053-2055)Gat>Cat p.D685H MYO18B_ENST00000407587.2_Missense_Mutation_p.D685H|MYO18B_ENST00000536101.1_Missense_Mutation_p.D685H NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 685 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGGCAGTGTGGATGGCAGGGT 0.587000 56 337 0 0 1 0 0 FAM86C1 55199 broad.mit.edu 37 11 71507232 71507232 + Missense_Mutation SNP C C G rs113587125 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:71507232C>G ENST00000528685.1 + 3 329 c.329C>G c.(328-330)cCg>cGg p.P110R FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000426628.2_Intron Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 0 lung(1) 1 CACGCCCACCCGGGCCTGCAT 0.612000 7 616 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107267379 107267379 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:107267379C>T ENST00000334726.2 + 1 925 c.836C>T c.(835-837)gCc>gTc p.A279V NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TTGGTGTATGCCGGACAAACC 0.418000 6 357 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24447387 24447387 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr22:24447387C>T ENST00000398319.2 + 8 1142 c.757C>T c.(757-759)Cgg>Tgg p.R253W CABIN1_ENST00000263119.5_Missense_Mutation_p.R253W|CABIN1_ENST00000405822.2_Intron NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 253 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GCTGATTGTGCGGGAGAAGGA 0.552000 5 289 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140963181 140963181 + Splice_Site SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr5:140963181C>T ENST00000253811.6 - 5 544 c.402_splice c.e5-1 p.G135_splice DIAPH1_ENST00000520569.1_Splice_Site_p.G81_splice|DIAPH1_ENST00000518047.1_Splice_Site_p.G126_splice|DIAPH1_ENST00000398562.2_Splice_Site_p.G126_splice|DIAPH1_ENST00000398557.4_Splice_Site_p.G135_splice|DIAPH1_ENST00000398566.3_Splice_Site_p.G126_splice|DIAPH1_ENST00000389054.3_Splice_Site_p.G135_splice|DIAPH1_ENST00000389057.5_Splice_Site_p.G126_splice O60610 DIAP1_HUMAN diaphanous-related formin 1 135 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCTCATGCCCTAGACAGA 0.423000 6 652 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27327322 27327322 + Missense_Mutation SNP C C A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:27327322C>A ENST00000404694.3 - 1 283 c.279G>T c.(277-279)ttG>ttT p.L93F CGREF1_ENST00000405600.1_Intron|CGREF1_ENST00000312734.4_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000402550.1_Intron Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 0 EF-hand 1. cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGTTAGACACAAGCGCATTT 0.547000 3 28 1 1 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 33 426 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67397524 67397524 + Silent SNP C C G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:67397524C>G ENST00000329956.6 + 6 628 c.609C>G c.(607-609)ccC>ccG p.P203P LRRC36_ENST00000435835.3_Silent_p.P82P|LRRC36_ENST00000563189.1_Silent_p.P82P|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000290940.7_5'UTR NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 203 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) TTCCCTTCCCCAACCGGGAAA 0.428000 16 420 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398336 10398336 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:10398336G>A ENST00000226207.5 - 37 5472 c.5378C>T c.(5377-5379)aCg>aTg p.T1793M CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1793 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTCCTTCACCGTCTGTTCCAG 0.557000 164 327 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 12 279 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28375699 28375699 + Silent SNP G G A rs61756151 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:28375699G>A ENST00000261609.7 - 82 12720 c.12612C>T c.(12610-12612)tgC>tgT p.C4204C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4204 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACTGGGATCCGCATTCCACTT 0.418000 6 940 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578502 7578502 + Missense_Mutation SNP A A T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:7578502A>T ENST00000420246.2 - 5 560 c.428T>A c.(427-429)gTg>gAg p.V143E TP53_ENST00000413465.2_Missense_Mutation_p.V143E|TP53_ENST00000269305.4_Missense_Mutation_p.V143E|TP53_ENST00000359597.4_Missense_Mutation_p.V143E|TP53_ENST00000445888.2_Missense_Mutation_p.V143E|TP53_ENST00000455263.2_Missense_Mutation_p.V143E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 143 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCACAGCTGCACAGGGCAGGT 0.587000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 70 147 0 0 1 0 0 ZNF551 90233 broad.mit.edu 37 19 58199361 58199361 + Missense_Mutation SNP G G T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:58199361G>T ENST00000282296.5 + 3 1903 c.1718G>T c.(1717-1719)aGc>aTc p.S573I ZNF551_ENST00000356715.4_Missense_Mutation_p.S557I|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron NM_001270938.1 NP_001257867.1 Q7Z340 ZN551_HUMAN zinc finger protein 551 573 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CAAAGTGCTAGCCTCATTCAA 0.458000 5 424 0.184627 0.187453 1 1 0 TUBGCP3 10426 broad.mit.edu 37 13 113140311 113140311 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr13:113140311G>A ENST00000261965.3 - 22 2906 c.2720C>T c.(2719-2721)aCg>aTg p.T907M NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 907 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) CGAGCTTCACGTGTGGGAGCT 0.597000 33 99 0 0 1 0 0 CTSS 1520 broad.mit.edu 37 1 150722622 150722622 + Missense_Mutation SNP T T G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:150722622T>G ENST00000368985.3 - 6 913 c.653A>C c.(652-654)aAa>aCa p.K218T CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.K168T NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 218 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) AGCACGATATTTTGAGTCATA 0.393000 82 257 0 0 1 0 0 ZNF280D 54816 broad.mit.edu 37 15 56958635 56958635 + Missense_Mutation SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:56958635T>C ENST00000559237.1 - 15 2596 c.1913A>G c.(1912-1914)tAc>tGc p.Y638C ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y638C|ZNF280D_ENST00000396245.1_Missense_Mutation_p.Y355C|ZNF280D_ENST00000267807.7_Missense_Mutation_p.Y651C NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 651 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) GCTAGTGTTGTATCTGCAAAA 0.358000 64 322 0 0 1 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43851071 43851071 + Missense_Mutation SNP G G C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:43851071G>C ENST00000420765.1 - 29 3489 c.3307C>G c.(3307-3309)Ctt>Gtt p.L1103V PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L1099V|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.L1103V|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L1079V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L1078V NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1103 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 CGTAGGGAAAGGGCATTATGC 0.478000 64 324 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965553 88965553 + Missense_Mutation SNP C C T rs141579525 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:88965553C>T ENST00000333190.4 + 4 3866 c.3257C>T c.(3256-3258)aCt>aTt p.T1086I NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1086 intracellular zinc ion binding p.T1086N(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ACTGGTGTGACTGATTCAACA 0.353000 HNSCC(36;0.09) 76 208 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67333434 67333434 + Missense_Mutation SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:67333434T>C ENST00000304372.5 - 6 873 c.818A>G c.(817-819)aAg>aGg p.K273R KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 273 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GCGGGCCCCCTTCCCGGGGCT 0.642000 5 587 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 6 557 0.0293803 0.029983 1 1 0 NELFB 25920 broad.mit.edu 37 9 140160826 140160826 + Missense_Mutation SNP G G C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:140160826G>C ENST00000343053.4 + 8 1380 c.1043G>C c.(1042-1044)gGc>gCc p.G348A NM_015456.3 NP_056271.2 negative elongation factor complex member B CTGGCGCTGGGCCAGGGAGCC 0.662000 46 163 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 45 237 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31864537 31864537 + Silent SNP C C A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:31864537C>A ENST00000396184.3 - 14 1554 c.1350G>T c.(1348-1350)gtG>gtT p.V450V PDE1C_ENST00000321453.7_Silent_p.V450V|PDE1C_ENST00000396182.2_Silent_p.V450V|PDE1C_ENST00000396191.1_Silent_p.V450V|PDE1C_ENST00000396193.1_Silent_p.V510V NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 450 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TTAATGGACTCACAATCTTCT 0.507000 5 532 3.59834e-05 3.80888e-05 1 1 0 NBPF9 400818 broad.mit.edu 37 1 144828704 144828704 + Missense_Mutation SNP T T G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:144828704T>G ENST00000338347.4 + 14 1750 c.1750T>G c.(1750-1752)Tac>Gac p.Y584D NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D neuroblastoma breakpoint family, member 9 p.L657L(3)|p.Y584D(1) NS(2)|prostate(1) 3 CTTCGCCCTTTACGTGGACAA 0.438000 9 780 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70902514 70902514 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:70902514C>T ENST00000393567.2 - 66 11419 c.11269G>A c.(11269-11271)Gta>Ata p.V3757I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3757 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTTCTGGGTACGTCCACCCAC 0.527000 40 144 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191859901 191859901 + Missense_Mutation SNP A A T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:191859901A>T ENST00000361099.3 - 10 1217 c.830T>A c.(829-831)cTt>cAt p.L277H STAT1_ENST00000392322.3_Missense_Mutation_p.L277H|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.L279H|STAT1_ENST00000409465.1_Missense_Mutation_p.L277H NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 277 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) CAACTTTTTAAGCTGCTGCCG 0.458000 5 346 0 0 1 0 0 BCAS1 8537 broad.mit.edu 37 20 52570062 52570062 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:52570062G>A ENST00000395961.3 - 11 1755 c.1589C>T c.(1588-1590)aCg>aTg p.T530M BCAS1_ENST00000371435.2_Missense_Mutation_p.T452M|BCAS1_ENST00000434986.2_Missense_Mutation_p.T196M|BCAS1_ENST00000371440.3_Missense_Mutation_p.T539M NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 530 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CGTGTCCACCGTGGCCTGCTC 0.562000 5 377 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144060770 144060770 + Silent SNP T T C rs141931104 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:144060770T>C ENST00000056217.5 + 2 1182 c.1008T>C c.(1006-1008)aaT>aaC p.N336N NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 336 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity p.N336N(5) breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CAGAAGAGAATAGGGCGGACT 0.512000 4 253 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371196 240371196 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:240371196G>A ENST00000319653.9 + 5 3314 c.3084G>A c.(3082-3084)gcG>gcA p.A1028A NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1028 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TACCCGGAGCGGGCATACCCC 0.741000 4 109 0 0 1 0 0 HMGB2 3148 broad.mit.edu 37 4 174253329 174253329 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr4:174253329G>A ENST00000296503.5 - 5 1405 c.532C>T c.(532-534)Cca>Tca p.P178S HMGB2_ENST00000438704.2_Missense_Mutation_p.P178S|HMGB2_ENST00000446922.2_Missense_Mutation_p.P178S P26583 HMGB2_HUMAN high mobility group box 2 178 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GAGCCTGTTGGCCTGCCAGGG 0.433000 79 336 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26173732 26173732 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr22:26173732G>A ENST00000335473.7 + 8 2302 c.2052G>A c.(2050-2052)gtG>gtA p.V684V MYO18B_ENST00000407587.2_Silent_p.V684V|MYO18B_ENST00000536101.1_Silent_p.V684V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 684 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAGGCAGTGTGGATGGCAGGG 0.592000 56 343 0 0 1 0 0 REXO1L1 254958 broad.mit.edu 37 8 86573803 86573803 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr8:86573803C>T ENST00000379010.2 - 1 1923 c.1924G>A c.(1924-1926)Gac>Aac p.D642N NM_172239.4 NP_758439.4 Q8IX06 GOR_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 642 cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 GCGCTTGCGTCCTCGCTGGAG 0.672000 24 905 0 0 1 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149784858 149784858 + Silent SNP A A G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:149784858A>G ENST00000331491.1 - 1 378 c.379T>C c.(379-381)Ttg>Ctg p.L127L NM_001123375.2 NP_001116847.1 Q71DI3 H32_HUMAN histone cluster 2, H3d 127 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3) 7 CGGCGGGCCAACTGGATGTCC 0.587000 11 220 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17415843 17415843 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:17415843G>A ENST00000302539.4 - 37 4643 c.4518C>T c.(4516-4518)gaC>gaT p.D1506D ABCC8_ENST00000389817.3_Silent_p.D1505D NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1505 ABC transporter 2. E -> K (in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP). 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) CCGTGGCCTCGTCCATGATGA 0.577000 99 441 0 0 1 0 0 LRRC37A11P 0 broad.mit.edu 37 17 37188577 37188577 + RNA SNP T T G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:37188577T>G ENST00000425901.2 + 0 2419 NR_033753.2 ACATATGTGATCTCTGTACCT 0.517000 9 746 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10772786 10772786 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:10772786C>T ENST00000075503.3 - 11 1746 c.1226G>A c.(1225-1227)gGc>gAc p.G409D NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 409 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CACTCTGATGCCGGCCACAGC 0.478000 HNSCC(73;0.22) 5 614 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643246 1643246 + Silent SNP A A G rs142004120 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:1643246A>G ENST00000399682.1 - 1 122 c.78T>C c.(76-78)tcT>tcC p.S26S NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 26 keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccccacagccagagccacagc 0.682000 10 341 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49672109 49672109 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:49672109G>A ENST00000561648.1 - 4 1007 c.954C>T c.(952-954)caC>caT p.H318H ZNF423_ENST00000563137.2_Silent_p.H258H|ZNF423_ENST00000562871.1_Silent_p.H258H|ZNF423_ENST00000262383.2_Silent_p.H318H|ZNF423_ENST00000535559.1_Silent_p.H201H|ZNF423_ENST00000562520.1_Silent_p.H258H|ZNF423_ENST00000567169.1_Silent_p.H201H NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 318 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TCTGGTTGGCGTGGGCTTGGT 0.617000 77 203 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 8 700 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50450207 50450207 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr18:50450207C>T ENST00000442544.2 + 4 1444 c.828C>T c.(826-828)ggC>ggT p.G276G DCC_ENST00000412726.1_Silent_p.G124G NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 276 Ig-like C2-type 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GGTTACGAGGCGAGGAAGTCA 0.373000 85 232 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247751947 247751947 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:247751947G>A ENST00000320065.1 + 1 286 c.286G>A c.(286-288)Gcc>Acc p.A96T RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) GAAAACTATCGCCTATGGTGG 0.527000 81 423 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102305084 102305084 + RNA SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:102305084T>C ENST00000561463.1 + 0 13130 GACATCAACATGAACACCATC 0.632000 5 94 0 0 1 0 0 CELA2B 51032 broad.mit.edu 37 1 15802967 15802967 + Missense_Mutation SNP T T A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:15802967T>A ENST00000375910.3 + 2 81 c.56T>A c.(55-57)gTc>gAc p.V19D CELA2B_ENST00000494280.1_3'UTR NM_015849.2 NP_056933.2 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B 19 proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 AGTTGTGGGGTCTCCACTTAC 0.527000 10 503 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127651788 127651788 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:127651788C>T ENST00000373555.4 - 17 1858 c.1525G>A c.(1525-1527)Gag>Aag p.E509K NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 509 Gln-rich. Golgi cisterna membrane p.E509K(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 TGTTCCTTCTCGTCTATTATG 0.512000 89 450 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276588 186276588 + Silent SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:186276588T>C ENST00000445192.2 + 7 1782 c.1737T>C c.(1735-1737)acT>acC p.T579T PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T486T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 579 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T579T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTGCCCCAACTACCCCCAAGG 0.647000 19 360 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240549 39240549 + Missense_Mutation SNP C C G rs151117992 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:39240549C>G ENST00000391417.4 + 1 91 c.91C>G c.(91-93)Cag>Gag p.Q31E NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CAGCTGCTGTCAGACCACCTG 0.632000 16 182 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57619818 57619818 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:57619818G>A ENST00000374888.1 + 1 1550 c.1337G>A c.(1336-1338)cGg>cAg p.R446Q NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 446 Required for interaction with ZXDC (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 ATTCACCTGCGGAGTCACACC 0.488000 109 324 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917431 48917431 + Missense_Mutation SNP G G A rs146708003 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:48917431G>A ENST00000311378.4 + 2 1310 c.782G>A c.(781-783)cGt>cAt p.R261H WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R168H|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 261 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) AACCATGTGCGTGGCAACGTG 0.617000 4 248 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687488 21687488 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:21687488G>A ENST00000398485.2 + 2 753 c.699G>A c.(697-699)ccG>ccA p.P233P PAX1_ENST00000444366.2_Silent_p.P209P|PAX1_ENST00000460221.1_Intron NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 233 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 AGCCCGGACCGTACGAGGCAA 0.642000 5 288 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 15 186 0 0 1 0 0 RSC1A1 6248 broad.mit.edu 37 1 15988099 15988099 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:15988099G>A ENST00000345034.1 + 1 1736 c.1736G>A c.(1735-1737)cGc>cAc p.R579H DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 579 UBA. negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1) 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GATATTGACCGCATTCTCCGT 0.473000 5 736 0 0 1 0 0 IGKV2D-30 0 broad.mit.edu 37 2 89976340 89976340 + RNA SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:89976340C>T ENST00000474213.1 + 0 246 ATCTCCAAGGCGCCTAATTTA 0.517000 46 969 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372765 74372765 + RNA SNP T T C rs2549261 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:74372765T>C ENST00000429810.2 - 0 1431 GAAGTCCCAGTGGGGAACCTT 0.502000 5 185 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64377799 64377799 + Missense_Mutation SNP A A G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:64377799A>G ENST00000355086.3 + 2 664 c.140A>G c.(139-141)cAg>cGg p.Q47R SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q7R|SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q47R NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 47 FCH. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CAGCTTCTCCAGGATCTGCAA 0.433000 33 487 0 0 1 0 0 OR52A4 0 broad.mit.edu 37 11 5142557 5142557 + RNA SNP C C A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:5142557C>A ENST00000498233.1 - 0 841 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TATCAAGCATCTTGGGCACAA 0.438000 70 196 3.28615e-30 3.61295e-30 1 1 0 SYT1 6857 broad.mit.edu 37 12 79679566 79679566 + Splice_Site SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:79679566G>A ENST00000261205.4 + 5 823 c.e5-1 SYT1_ENST00000393240.3_Splice_Site|SYT1_ENST00000552744.1_Splice_Site|SYT1_ENST00000457153.2_Splice_Site NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 GTTTCTTTCAGTGCCACCGTG 0.368000 45 245 0 0 1 0 0 BEND2 139105 broad.mit.edu 37 X 18192194 18192194 + Missense_Mutation SNP C C G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:18192194C>G ENST00000380033.4 - 12 2069 c.1937G>C c.(1936-1938)cGa>cCa p.R646P BEND2_ENST00000380030.3_Missense_Mutation_p.R555P NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 646 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 GGAAGGTTCTCGCATTCCTTC 0.383000 74 261 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99913460 99913460 + Silent SNP A A G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:99913460A>G ENST00000332397.6 + 7 1438 c.1254A>G c.(1252-1254)tcA>tcG p.S418S SPDYE3_ENST00000437326.2_Silent_p.S41S NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 418 p.S418S(11) endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 TGAGGGTGTCAGACAAGGTAA 0.522000 9 1211 0 0 1 0 0 TADA2A 6871 broad.mit.edu 37 17 35830625 35830625 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:35830625G>A ENST00000394395.2 + 13 1190 c.1017G>A c.(1015-1017)cgG>cgA p.R339R TADA2A_ENST00000225396.6_Silent_p.R339R|TADA2A_ENST00000591992.1_3'UTR NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 339 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 GGCTCCGCCGGCAAGCTGACA 0.507000 5 355 0 0 1 0 0 GHRL 51738 broad.mit.edu 37 3 10331548 10331548 + Silent SNP C C T rs146899970 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr3:10331548C>T ENST00000335542.8 - 4 993 c.123G>A c.(121-123)tcG>tcA p.S41S GHRL_ENST00000437422.2_Silent_p.S29S|GHRLOS_ENST00000605014.1_RNA|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000457360.1_Silent_p.S41S|GHRL_ENST00000449238.2_Silent_p.S28S|GHRL_ENST00000450603.1_Silent_p.S41S|GHRL_ENST00000287656.7_Silent_p.S40S|GHRL_ENST00000429122.1_Silent_p.S41S|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000449554.2_Silent_p.S40S|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000422159.1_Silent_p.S41S|GHRL_ENST00000430179.1_Silent_p.S40S Q9UBU3 GHRL_HUMAN ghrelin/obestatin prepropeptide 41 actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity breast(2)|large_intestine(1)|lung(1)|ovary(1) 5 GTGGCTTCTTCGACTCCTTTC 0.572000 126 545 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20588554 20588554 + RNA SNP C C G rs112526901 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:20588554C>G ENST00000428453.1 - 0 4196 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CCGTGGAAAGCGGTTGCAGAA 0.473000 5 342 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 4 101 0.00024832 0.000258721 1 1 0 ABCC9 10060 broad.mit.edu 37 12 22063212 22063212 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:22063212G>A ENST00000261200.4 - 8 1198 c.1199C>T c.(1198-1200)aCg>aTg p.T400M ABCC9_ENST00000345162.2_Missense_Mutation_p.T400M|ABCC9_ENST00000261201.4_Missense_Mutation_p.T400M NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 400 ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAAGTTAGACGTAGAGAGCCT 0.348000 105 266 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191859900 191859900 + Silent SNP A A T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:191859900A>T ENST00000361099.3 - 10 1218 c.831T>A c.(829-831)ctT>ctA p.L277L STAT1_ENST00000392322.3_Silent_p.L277L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.L279L|STAT1_ENST00000409465.1_Silent_p.L277L NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 277 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) CCAACTTTTTAAGCTGCTGCC 0.458000 5 344 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33386077 33386077 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:33386077C>T ENST00000537089.1 - 5 565 c.247G>A c.(247-249)Gag>Aag p.E83K AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K O14520 AQP7_HUMAN aquaporin 7 175 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACTGACCTCATTCAGGAAG 0.592000 6 187 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132159668 132159668 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:132159668G>A ENST00000511190.1 - 6 3050 c.2581C>T c.(2581-2583)Cgg>Tgg p.R861W USP26_ENST00000406273.1_Missense_Mutation_p.R861W|USP26_ENST00000370832.1_Missense_Mutation_p.R861W NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 861 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CCTAACACCCGCATATCATCG 0.438000 5 339 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90630770 90630770 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:90630770G>A ENST00000330062.3 - 6 829 c.716C>T c.(715-717)gCc>gTc p.A239V IDH2_ENST00000539790.1_Missense_Mutation_p.A109V|IDH2_ENST00000559482.1_Missense_Mutation_p.A130V|IDH2_ENST00000540499.2_Missense_Mutation_p.A187V NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 239 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) CTTCTGGATGGCATACTGGAA 0.562000 M GBM OREG0023466 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 655 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166572035 166572035 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr6:166572035G>A ENST00000296946.2 - 9 1544 c.1076C>T c.(1075-1077)aCc>aTc p.T359I T_ENST00000366871.3_Missense_Mutation_p.T301I NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 359 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GGAGCCCGGGGTGACGGCGCC 0.687000 Chordoma, Familial Clustering of 22 41 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143748124 143748124 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:143748124G>A ENST00000408906.2 + 1 664 c.630G>A c.(628-630)ccG>ccA p.P210P NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TGGTGGGGCCGCTCTGCCTGG 0.597000 6 759 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 6 361 0 0 1 0 0 HLA-V 0 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 5 29 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326017 152326017 + Missense_Mutation SNP C C A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:152326017C>A ENST00000388718.5 - 3 4317 c.4245G>T c.(4243-4245)agG>agT p.R1415S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1415 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCAGTTGTCCTGGACCCTC 0.527000 8 1074 1.06961e-07 1.15056e-07 1 1 0 METTL15 196074 broad.mit.edu 37 11 28311787 28311787 + Missense_Mutation SNP C C G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:28311787C>G ENST00000342303.5 + 5 897 c.442C>G c.(442-444)Cag>Gag p.Q148E METTL15_ENST00000303459.6_Missense_Mutation_p.Q148E|METTL15_ENST00000406787.3_Missense_Mutation_p.Q148E|METTL15_ENST00000407364.3_Missense_Mutation_p.Q148E NM_152636.2 NP_689849.2 A6NJ78 MET15_HUMAN methyltransferase like 15 148 methyltransferase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 14 CCAGTTCAGCCAGGCAGAAGC 0.433000 39 94 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 74005322 74005322 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:74005322G>A ENST00000476977.1 + 24 4258 c.2567G>A c.(2566-2568)cGc>cAc p.R856H GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R856H|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R871H|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R888H Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 871 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GAGCATGTCCGCATGGTCATC 0.612000 5 315 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 4 46 8.12818e-05 8.5132e-05 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 11 276 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20357449 20357449 + Splice_Site SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:20357449G>A ENST00000396134.2 - 6 1403 c.1281_splice c.e6+1 p.T427_splice UMOD_ENST00000570689.1_Splice_Site_p.T394_splice|UMOD_ENST00000424589.1_Splice_Site_p.T427_splice|UMOD_ENST00000302509.4_Splice_Site_p.T394_splice|UMOD_ENST00000396138.4_Splice_Site_p.T443_splice|UMOD_ENST00000396142.2_Splice_Site_p.T394_splice NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 394 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding p.T394M(1) endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 AGGACGTACCGTCAACACTGT 0.567000 27 132 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807460 20807460 + Missense_Mutation SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:20807460T>C ENST00000601440.1 - 4 1369 c.1223A>G c.(1222-1224)tAc>tGc p.Y408C CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y408C(1) breast(1)|endometrium(1)|lung(3)|skin(1) 6 GTTAGAGGAGTACTTAAAAGC 0.408000 4 365 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871055 170871055 + Silent SNP G G A rs112928724 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr6:170871055G>A ENST00000392092.2 + 3 510 c.231G>A c.(229-231)caG>caA p.Q77Q TBP_ENST00000230354.6_Silent_p.Q77Q|TBP_ENST00000540980.1_Silent_p.Q57Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 77 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) aacagcagcagcagcagcagc 0.572000 14 101 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84476138 84476138 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:84476138C>T ENST00000416219.2 + 15 1423 c.1334C>T c.(1333-1335)gCg>gTg p.A445V ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 445 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GCCAACAATGCGGTCATCAGA 0.552000 7 1239 0 0 1 0 0 SLMO2 51012 broad.mit.edu 37 20 57613539 57613539 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:57613539C>T ENST00000355937.4 - 2 361 c.183G>A c.(181-183)ctG>ctA p.L61L SLMO2_ENST00000371033.5_Silent_p.L61L NM_016045.2 NP_057129.2 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 (Drosophila) 61 PRELI/MSF1. endometrium(1)|lung(2)|skin(2) 5 all_lung(29;0.00711) Colorectal(105;0.109) CAATGGAAGGCAGTCCCCACT 0.443000 6 420 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32591647 32591647 + Splice_Site SNP G G A rs140919039 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:32591647G>A ENST00000357033.4 - 15 2018 c.1812_splice c.e15+1 p.A604_splice DMD_ENST00000378677.2_Splice_Site_p.A600_splice|DMD_ENST00000288447.4_Splice_Site_p.A596_splice NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 604 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AAGTACATACGGCCAGTTTTT 0.308000 72 206 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100463679 100463679 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:100463679C>T ENST00000354161.3 + 14 2322 c.2197C>T c.(2197-2199)Cgg>Tgg p.R733W NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 733 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CAACCTGCTGCGGCCCCGGGG 0.711000 7 971 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112170693 112170693 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr5:112170693G>A ENST00000457016.1 + 15 2169 c.1789G>A c.(1789-1791)Gca>Aca p.A597T APC_ENST00000257430.4_Missense_Mutation_p.A597T|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.A597T P25054 APC_HUMAN adenomatous polyposis coli 597 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GAATTTGTCAGCACATTGCAC 0.398000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 5 410 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129155916 129155916 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr3:129155916G>A ENST00000429544.2 - 3 766 c.571C>T c.(571-573)Ccg>Tcg p.P191S MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 191 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 CTACTTGGCGGCATAAACACA 0.443000 Base excision repair (BER), DNA glycosylases 5 567 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 4 154 0 0 1 0 0 PCDHGA2 0 broad.mit.edu 37 5 140719009 140719009 + Silent SNP G G A rs151023570 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr5:140719009G>A ENST00000394576.2 + 1 471 c.471G>A c.(469-471)gcG>gcA p.A157A PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAAGAATGCGCATGATGCAG 0.498000 13 481 0 0 1 0 0 HIST1H2BE 8344 broad.mit.edu 37 6 26184241 26184241 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr6:26184241G>A ENST00000356530.3 + 1 284 c.218G>A c.(217-219)cGc>cAc p.R73H NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 73 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(1) 4 ATCTTCGAGCGCATCGCCGGC 0.597000 5 545 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 6 302 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19429284 19429284 + Missense_Mutation SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr18:19429284T>C ENST00000261537.6 + 17 2785 c.2521T>C c.(2521-2523)Tct>Cct p.S841P MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 841 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) TGCTACCTGTTCTTTATGTTC 0.343000 68 388 0 0 1 0 0 LIN37 55957 broad.mit.edu 37 19 36244964 36244964 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:36244964C>T ENST00000301159.9 + 7 855 c.491C>T c.(490-492)cCg>cTg p.P164L AC002398.9_ENST00000591613.2_3'UTR NM_019104.2 NP_061977.1 Q96GY3 LIN37_HUMAN lin-37 homolog (C. elegans) 164 Pro-rich. protein binding large_intestine(1)|lung(5) 6 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TACAAGCTGCCGCCACCCACA 0.632000 15 512 0 0 1 0 0 EIF2B5 8893 broad.mit.edu 37 3 183860631 183860631 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr3:183860631G>A ENST00000273783.3 + 11 1733 c.1611G>A c.(1609-1611)gaG>gaA p.E537E EIF2B5_ENST00000444495.1_Silent_p.E537E NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 537 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ATTCTGAGGAGCCGGACAGCC 0.483000 16 72 0 0 1 0 0 RACGAP1 29127 broad.mit.edu 37 12 50410450 50410450 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:50410450G>A ENST00000434422.1 - 3 350 c.49C>T c.(49-51)Cgc>Tgc p.R17C RACGAP1_ENST00000454520.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R17C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R17C Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 17 blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 TCCACCCGGCGCACAAGCTGC 0.438000 5 573 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 5 253 0 0 1 0 0 SMURF2P1 0 broad.mit.edu 37 17 28935540 28935540 + RNA SNP G G A rs144598799 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:28935540G>A ENST00000578265.1 + 0 193 CGTTGTGTTCGTCTTTTTCCA 0.363000 4 98 0 0 1 0 0 SFXN3 81855 broad.mit.edu 37 10 102795364 102795364 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr10:102795364G>A ENST00000393459.1 + 4 745 c.272G>A c.(271-273)cGc>cAc p.R91H SFXN3_ENST00000224807.5_Missense_Mutation_p.R95H Q9BWM7 SFXN3_HUMAN sideroflexin 3 95 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity p.R95H(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CTGATTGGCCGCATGTCAGCC 0.587000 4 174 0 0 1 0 0 DHRS4 10901 broad.mit.edu 37 14 24429144 24429144 + Missense_Mutation SNP G G C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr14:24429144G>C ENST00000313250.5 + 3 543 c.340G>C c.(340-342)Gtc>Ctc p.V114L DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000558263.1_Missense_Mutation_p.V114L|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000543741.2_Missense_Mutation_p.V114L|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000382761.3_Missense_Mutation_p.V96L|DHRS4_ENST00000397075.3_Missense_Mutation_p.V114L NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 114 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CGATATCCTAGTCTCCAATGC 0.522000 62 1441 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 6 445 0 0 1 0 0 RETSAT 54884 broad.mit.edu 37 2 85571747 85571747 + Missense_Mutation SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:85571747T>C ENST00000295802.4 - 7 1338 c.1226A>G c.(1225-1227)tAt>tGt p.Y409C RETSAT_ENST00000457495.2_Missense_Mutation_p.Y348C|RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.Y409C NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 409 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) ATAGTAAACATAGTAGTTGGT 0.567000 55 214 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 9 134 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 6 226 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1159032 1159032 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:1159032G>A ENST00000356191.2 + 15 1201 c.1201G>A c.(1201-1203)Gcc>Acc p.A401T mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GGCTGCCTATGCCCCAGGGGC 0.657000 84 305 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 7 190 0 0 1 0 0 IL34 146433 broad.mit.edu 37 16 70693984 70693984 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:70693984C>T ENST00000429149.2 + 7 1178 c.623C>T c.(622-624)gCg>gTg p.A208V IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000288098.2_Missense_Mutation_p.A208V NM_001172771.1|NM_152456.2 NP_001166242.1|NP_689669.2 Q6ZMJ4 IL34_HUMAN interleukin 34 208 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding p.A208V(1) breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17 TTGCAGTATGCGGCCACCCAG 0.647000 5 652 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515463 195515463 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr3:195515463G>A ENST00000463781.3 - 2 3447 c.2988C>T c.(2986-2988)acC>acT p.T996T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T996T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1001 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.T996T(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGCATCGGTGACATGAA 0.582000 3 39 0 0 1 0 0 FAM58A 92002 broad.mit.edu 37 X 152861517 152861517 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:152861517C>T ENST00000406277.2 - 4 337 c.235G>A c.(235-237)Ggc>Agc p.G79S FAM58A_ENST00000370175.4_5'UTR NM_001130997.1|NM_152274.3 NP_001124469.1|NP_689487.2 Q8N1B3 FA58A_HUMAN family with sequence similarity 58, member A 81 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding p.G47S(2) endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCACTTTGCCGGCCAAGTAA 0.527000 5 671 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32582309 32582309 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:32582309G>A ENST00000421745.2 + 1 214 c.80G>A c.(79-81)cGg>cAg p.R27Q NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 27 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AGCGCAGGCCGGAAGATGGCG 0.746000 11 18 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 10 292 1.58986e-06 1.69189e-06 1 1 0 GAS2L2 246176 broad.mit.edu 37 17 34074090 34074090 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:34074090G>A ENST00000254466.6 - 5 1057 c.1030C>T c.(1030-1032)Cgc>Tgc p.R344C GAS2L2_ENST00000587565.1_Missense_Mutation_p.R328C NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 344 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CGTTCCCTGCGGGGTCTGGGG 0.627000 105 232 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907281 153907281 + Missense_Mutation SNP G G C rs3835302 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:153907281G>C ENST00000361217.4 - 18 3146 c.2728C>G c.(2728-2730)Cag>Gag p.Q910E NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 910 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACctgctcctgctgctgctgc 0.637000 4 155 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907303 153907303 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:153907303C>T ENST00000361217.4 - 18 3124 c.2706G>A c.(2704-2706)caG>caA p.Q902Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 902 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgctgctgttgctgct 0.642000 6 252 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 12 191 0 0 1 0 0 THRA 7067 broad.mit.edu 37 17 38240101 38240101 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:38240101G>A ENST00000450525.2 + 5 727 c.236G>A c.(235-237)cGc>cAc p.R79H THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 79 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.R79H(2) endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TTCTTTCGCCGCACAATCCAG 0.547000 6 392 0 0 1 0 0 C5orf51 285636 broad.mit.edu 37 5 41909846 41909846 + Splice_Site SNP A A T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr5:41909846A>T ENST00000381647.2 + 3 226 c.e3-1 C5orf51_ENST00000505931.2_Splice_Site NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 p.?(1) endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 TTTTTTTTTTAGGCTATTTTG 0.294000 6 197 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105183982 105183982 + Missense_Mutation SNP A A G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:105183982A>G ENST00000428173.2 + 23 4222 c.3919A>G c.(3919-3921)Aaa>Gaa p.K1307E NRK_ENST00000243300.9_Missense_Mutation_p.K1306E Q7Z2Y5 NRK_HUMAN Nik related kinase 1306 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GGAAGCCTGCAAAGCTATTGA 0.388000 HNSCC(51;0.14) 4 55 0 0 1 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23458413 23458413 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:23458413C>T ENST00000258729.3 - 3 623 c.267G>A c.(265-267)ccG>ccA p.P89P IGF2BP3_ENST00000491719.1_5'UTR NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 89 RRM 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 GTAAATGAGGCGGGATATTTC 0.313000 19 111 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92538476 92538476 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:92538476C>T ENST00000298047.6 + 10 9071 c.9054C>T c.(9052-9054)agC>agT p.S3018S FAT3_ENST00000409404.2_Silent_p.S3018S|FAT3_ENST00000525166.1_Silent_p.S2868S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3018 Cadherin 27. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGGAAGTGAGCGTCAGTGATG 0.438000 TCGA Ovarian(4;0.039) 10 101 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967157 23967157 + Missense_Mutation SNP A A G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:23967157A>G ENST00000335694.4 - 2 296 c.92T>C c.(91-93)aTg>aCg p.M31T GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 31 gamma-glutamyltransferase activity p.M31T(6) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 GTCATCCGGCATGTAGAACTC 0.622000 6 294 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420551 11420551 + RNA SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:11420551C>T ENST00000381842.3 - 0 642 PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) CTGGTTTCCTCCTTGTGGGGG 0.627000 7 910 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95178163 95178163 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr8:95178163C>T ENST00000027335.3 - 10 1232 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K CDH17_ENST00000450165.2_Missense_Mutation_p.E370K|CDH17_ENST00000441892.2_Missense_Mutation_p.E156K NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 370 Cadherin 4. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GCAGTATTTTCTTCATCCCTG 0.418000 4 240 0 0 1 0 0 ARSB 411 broad.mit.edu 37 5 78280984 78280984 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr5:78280984G>A ENST00000264914.4 - 1 624 c.88C>T c.(88-90)Ctg>Ttg p.L30L ARSB_ENST00000396151.3_Silent_p.L30L|ARSB_ENST00000565165.1_Silent_p.L30L NM_000046.3 NP_000037.2 P15848 ARSB_HUMAN arylsulfatase B 30 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) gccAACAACAGCAGCAGCAGC 0.751000 3 35 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848252 73848252 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr8:73848252C>T ENST00000523207.1 + 3 1250 c.662C>T c.(661-663)aCg>aTg p.T221M NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 221 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTGCAGGAAACGGACGAATTT 0.473000 11 374 0 0 1 0 0 RANGAP1 5905 broad.mit.edu 37 22 41650402 41650402 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr22:41650402C>T ENST00000455915.2 - 10 2639 c.1170G>A c.(1168-1170)gaG>gaA p.E390E RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E P46060 RAGP1_HUMAN Ran GTPase activating protein 1 390 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity p.E390E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 cctcctcctcctcttcttcct 0.562000 4 213 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52091537 52091537 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:52091537G>A ENST00000262259.2 + 5 2311 c.1953G>A c.(1951-1953)tcG>tcA p.S651S ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 651 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GTGGGAAATCGTTCAGTAAGA 0.438000 70 259 0 0 1 0 0 FBXO47 494188 broad.mit.edu 37 17 37099973 37099973 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:37099973C>T ENST00000378079.2 - 8 1009 c.810G>A c.(808-810)caG>caA p.Q270Q NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 270 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 CTATCATTTCCTGCCAAACCA 0.388000 89 342 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276240 186276240 + Silent SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:186276240T>C ENST00000445192.2 + 7 1434 c.1389T>C c.(1387-1389)acT>acC p.T463T PRG4_ENST00000367483.4_Silent_p.T422T|PRG4_ENST00000367486.3_Silent_p.T420T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T370T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 463 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T463T(3) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.657000 11 501 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678988 100678988 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:100678988G>A ENST00000306151.4 + 3 4355 c.4291G>A c.(4291-4293)Gct>Act p.A1431T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1431 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.A1431T(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GACCACTTCTGCTGAAGCCAC 0.488000 8 890 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26866539 26866539 + Missense_Mutation SNP T T A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:26866539T>A ENST00000541819.2 - 5 653 c.551A>T c.(550-552)aAg>aTg p.K184M GABRB3_ENST00000545868.1_Missense_Mutation_p.K43M|GABRB3_ENST00000400188.3_Missense_Mutation_p.K57M|GABRB3_ENST00000311550.5_Missense_Mutation_p.K128M|GABRB3_ENST00000299267.4_Missense_Mutation_p.K128M P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 128 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CACAAATGACTTTTTGTCATT 0.502000 130 334 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120307007 120307007 + Missense_Mutation SNP C C T rs147906427 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:120307007C>T ENST00000369406.3 - 2 396 c.347G>A c.(346-348)cGc>cAc p.R116H HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.R116H NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 116 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) GAGCTGTATGCGCTCCATCAG 0.547000 5 464 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149581925 149581925 + Missense_Mutation SNP G G T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr5:149581925G>T ENST00000230671.2 + 7 1245 c.874G>T c.(874-876)Gct>Tct p.A292S SLC6A7_ENST00000524041.1_Missense_Mutation_p.A292S NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 292 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) GATTGAAGCTGCTCTTCAGAT 0.537000 6 435 1 1 1 1 0 SPOCK3 50859 broad.mit.edu 37 4 167713399 167713399 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr4:167713399G>A ENST00000357154.3 - 8 777 c.640C>T c.(640-642)Cgg>Tgg p.R214W SPOCK3_ENST00000357545.4_Missense_Mutation_p.R211W|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R163W|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R94W|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R118W|SPOCK3_ENST00000510741.1_Intron NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 214 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) AACCAGTCCCGCAATCTGTTT 0.393000 74 239 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32759255 32759255 + Missense_Mutation SNP A A G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr13:32759255A>G ENST00000380250.3 + 26 3785 c.3289A>G c.(3289-3291)Atg>Gtg p.M1097V NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1097 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TTTTAGTGCAATGGTGGCCAA 0.413000 81 322 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328017 57328017 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:57328017C>T ENST00000326441.9 - 10 2156 c.1793G>A c.(1792-1794)cGt>cAt p.R598H PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 598 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R598H(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ttcacgttcacgttcatgttc 0.458000 5 211 0 0 1 0 0 LRRC27 80313 broad.mit.edu 37 10 134155718 134155718 + Splice_Site SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr10:134155718C>T ENST00000392638.2 + 4 538 c.341_splice c.e4-1 p.H115_splice LRRC27_ENST00000368614.3_Splice_Site_p.H115_splice|LRRC27_ENST00000368613.4_Splice_Site_p.H115_splice|LRRC27_ENST00000368612.1_Splice_Site_p.H53_splice|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000344079.5_Splice_Site_p.H115_splice|LRRC27_ENST00000368615.3_Splice_Site_p.H115_splice|LRRC27_ENST00000356571.4_Intron|LRRC27_ENST00000368610.3_Splice_Site_p.H53_splice Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 115 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) GCTTTAAAGGCATTTGAAAAC 0.264000 22 66 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 310 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39788668 39788670 + In_Frame_Del DEL GGA GGA - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:39788668_39788670delGGA ENST00000564288.1 + 33 5001_5003 c.4224_4226delGGA c.(4222-4227)ctg>ct p.LE1408del MACF1_ENST00000317713.7_In_Frame_Del_p.LE1413del|MACF1_ENST00000567887.1_In_Frame_Del_p.LE1445del|MACF1_ENST00000372915.3_In_Frame_Del_p.LE1413del|MACF1_ENST00000361689.2_In_Frame_Del_p.LE1413del|MACF1_ENST00000539005.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_In_Frame_Del_p.LE1413del Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1413 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCCGGCGTCTGGAGGAGGAGGAG 0.493 7 579 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 7 901 --- --- --- --- SPATA1 100505741 broad.mit.edu 37 1 84988200 84988201 + RNA INS - - T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:84988200_84988201insT ENST00000370638.2 + 0 526 spermatogenesis associated 1 breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1) 10 Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111) GGTAAGTTTTCTTTTTTTTTCT 0.327 7 176 --- --- --- --- LPAR3 23566 broad.mit.edu 37 1 85331664 85331665 + Frame_Shift_Ins INS - - A rs76299065 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:85331664_85331665insA ENST00000440886.1 - 1 177_178 c.139_140insT c.(139-141)taafs p.*47fs LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.*47fs|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 47 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 CAGAGAATTAGAAAAAAAAATA 0.401 12 607 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 8 483 --- --- --- --- NGF 4803 broad.mit.edu 37 1 115828721 115828722 + Frame_Shift_Del DEL CA CA - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:115828721_115828722delCA ENST00000369512.2 - 3 863_864 c.695_696delTG c.(694-696)gfs p.V232fs RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 232 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TCCTGCTGAGCACACACACACA 0.579 7 412 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 9 437 --- --- --- --- NR1I3 0 broad.mit.edu 37 1 161202999 161203000 + Frame_Shift_Ins INS - - G rs139473535 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:161202999_161203000insG ENST00000367983.4 - 4 661_662 c.367_368insC c.(367-369)ccafs p.P123fs NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCATGTGGCGGGTGTGGGCC 0.564 8 1225 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcg>gc p.AE30del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 8 376 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 10 340 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 11 976 --- --- --- --- CH17-132F21.1 0 broad.mit.edu 37 2 90458648 90458648 + Frame_Shift_Del DEL T T - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:90458648delT ENST00000603238.1 + 2 324 c.324delT c.(322-324)tgfs p.108fs CTTATTACTGTCAACAGAGTG 0.512 7 2869 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 7 385 --- --- --- --- LIPT1 51601 broad.mit.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:99778781delA ENST00000393477.3 + 4 713 c.361delA c.(361-363)aafs p.K123fs MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393473.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 123 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) CTTTACAACCAAAAAAAAGTA 0.388 17 285 --- --- --- --- EIF5B 9669 broad.mit.edu 37 2 99977775 99977777 + In_Frame_Del DEL TGA TGA - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:99977775_99977777delTGA ENST00000289371.5 + 4 613_615 c.411_413delTGA c.(409-414)agt>ag p.SD137del NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 137 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ACTCTGGGAGTGATGATGATGAT 0.345 7 384 --- --- --- --- IL1R2 7850 broad.mit.edu 37 2 102638648 102638649 + Splice_Site INS - - A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:102638648_102638649insA ENST00000332549.3 + 6 917_918 c.e6-1 IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) ATCTTTCTCAGAAAAAAAAGAA 0.441 8 1043 --- --- --- --- PLA2R1 0 broad.mit.edu 37 2 160801441 160801442 + Frame_Shift_Ins INS - - T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:160801441_160801442insT ENST00000283243.7 - 28 4325_4326 c.4119_4120insA c.(4117-4122)aagcttfs p.L1374fs PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1374 C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CATATAAAGCCTTTTTTTTCTT 0.401 8 647 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201438010 201438030 + In_Frame_Del DEL AAAGTAGTTAAAAAACGTAAG AAAGTAGTTAAAAAACGTAAG - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:201438010_201438030delAAAGTAGTTAAAAAACGTAAG ENST00000357799.4 + 7 3039_3059 c.2941_2961delAAAGTAGTTAAAAAACGTAAG c.(2941-2961)del p.KVVKKRK981del NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 981 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding p.V982E(1) NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AGATTCCTACAAAGTAGTTAAAAAACGTAAGAAAGAATCAT 0.308 13 301 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220496782 220496783 + Frame_Shift_Ins INS - - C rs34369613 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:220496782_220496783insC ENST00000358055.3 + 7 1416_1417 c.904_905insC c.(904-906)cccfs p.P302fs SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.P329fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.P329fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.P302fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.P302fs P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 302 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGCGGCCTGGCCCCCATCCTT 0.634 15 302 --- --- --- --- GIGYF2 26058 broad.mit.edu 37 2 233708804 233708806 + In_Frame_Del DEL CAA CAA - rs3816334 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:233708804_233708806delCAA ENST00000373566.3 + 25 3201_3203 c.3004_3006delCAA c.(3004-3006)del p.Q1006del GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.AT824del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 984 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) gcagcagcagcaacagcaacagc 0.483 7 245 --- --- --- --- GRM7 2917 broad.mit.edu 37 3 7621013 7621013 + Frame_Shift_Del DEL T T - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr3:7621013delT ENST00000486284.1 + 8 2694 c.2420delT c.(2419-2421)atfs p.I807fs GRM7_ENST00000357716.4_Frame_Shift_Del_p.I807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Frame_Shift_Del_p.I807fs|GRM7_ENST00000403881.1_Frame_Shift_Del_p.I807fs|GRM7_ENST00000389336.4_Frame_Shift_Del_p.I807fs NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 807 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TTCATTCCAATTTTTTTTGGC 0.383 7 183 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723112 49723112 + Frame_Shift_Del DEL T T - rs11288337 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr3:49723112delT ENST00000449682.2 - 11 1665 c.1304delA c.(1303-1305)acfs p.N435fs MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 421 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCATCTGGGTTCCGGCAGAA 0.587 8 295 --- --- --- --- MORC1 27136 broad.mit.edu 37 3 108682418 108682419 + Frame_Shift_Ins INS - - T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr3:108682418_108682419insT ENST00000232603.5 - 27 2723_2724 c.2641_2642insA c.(2641-2643)aaafs p.K881fs MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 881 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTTCCTCTTTATTTTTTTTTCA 0.287 8 249 --- --- --- --- RP11-167H9.4 0 broad.mit.edu 37 3 149769296 149769296 + RNA DEL C C - rs59377959 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr3:149769296delC ENST00000487840.1 + 0 46 TTCCTGGTGTCtttttttttt 0.463 7 165 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 9 357 --- --- --- --- LIAS 11019 broad.mit.edu 37 4 39462464 39462464 + Frame_Shift_Del DEL A A - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr4:39462464delA ENST00000261434.3 + 2 218 c.100delA c.(100-102)aafs p.K36fs LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 36 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding p.K36fs*31(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) CTTGCCAGATAAAAAAAAGGA 0.393 10 728 --- --- --- --- YTHDC1 91746 broad.mit.edu 37 4 69202891 69202893 + In_Frame_Del DEL TCC TCC - rs141105019 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr4:69202891_69202893delTCC ENST00000344157.4 - 4 1070_1072 c.735_737delGGA c.(733-738)gaa>ga p.EE247del YTHDC1_ENST00000355665.3_In_Frame_Del_p.EE247del|YTHDC1_ENST00000579690.1_In_Frame_Del_p.EE247del NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 247 Glu-rich. p.E245E(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 ttcttcttcttcctcctcctcct 0.473 7 190 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 7 425 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128564917 128564917 + Frame_Shift_Del DEL A A - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr4:128564917delA ENST00000335251.5 + 2 491 c.388delA c.(388-390)aafs p.K131fs INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 131 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 GCGCTGCAATAAAAAAAATAG 0.358 8 386 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 8 414 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTCCACACAAAGAAGGTTTGTG 0.414 12 619 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 7 226 --- --- --- --- MOCS2 4338 broad.mit.edu 37 5 52402940 52402940 + Frame_Shift_Del DEL G G - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr5:52402940delG ENST00000361377.4 - 3 293 c.252delC c.(250-252)ccfs p.P84fs MOCS2_ENST00000510818.2_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000508922.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000396954.3_Frame_Shift_Del_p.P22fs|MOCS2_ENST00000584946.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000582677.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000450852.3_Frame_Shift_Del_p.P84fs O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 84 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) CTCCACTAATGGGGGGGATAA 0.423 7 325 --- --- --- --- PHIP 55023 broad.mit.edu 37 6 79655961 79655961 + Frame_Shift_Del DEL T T - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr6:79655961delT ENST00000275034.4 - 38 4554 c.4387delA c.(4387-4389)ggfs p.R1463fs PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1463 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTTAAGATCCTTTTTTTCCTT 0.358 7 503 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr6:80751896_80751897insA ENST00000509894.1 + 22 3377_3378 c.2548_2549insA c.(2548-2550)aaafs p.K850fs TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs P33981 TTK_HUMAN TTK protein kinase 851 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAGACTTTTGAAAAAAAAAGG 0.302 12 361 --- --- --- --- GLCCI1 113263 broad.mit.edu 37 7 8126097 8126099 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:8126097_8126099delCAG ENST00000223145.5 + 8 2130_2132 c.1573_1575delCAG c.(1573-1575)del p.Q528del NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 528 Poly-Gln. endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GCAGCCATCCCAGCAGCAGCAGC 0.562 7 1056 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 9 426 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 14 453 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCAGCTGCcctcctcctcctc 0.700 7 227 --- --- --- --- C7orf55-LUC7L2 0 broad.mit.edu 37 7 139102397 139102408 + In_Frame_Del DEL GCAGCCGTAGCC GCAGCCGTAGCC - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:139102397_139102408delGCAGCCGTAGCC ENST00000354926.4 + 9 1277_1288 c.923_934delGCAGCCGTAGCC c.(922-936)agc>a p.SSRSR308del C7orf55-LUC7L2_ENST00000541170.3_In_Frame_Del_p.SSRSR305del|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000263545.6_In_Frame_Del_p.SSRSR307del|LUC7L2_ENST00000541515.3_In_Frame_Del_p.SSRSR374del NM_016019.3 NP_057103.2 TCCCGCTCCAGCAGCCGTAGCCGCAGCCGTAG 0.547 12 257 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 13 235 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 9 269 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481743 142481745 + RNA DEL CTA CTA - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:142481743_142481745delCTA ENST00000603901.1 + 0 454 NR_001296.3 ACCCACATTTCTACTTTCTTTAT 0.517 12 352 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 8 79 --- --- --- --- NOM1 64434 broad.mit.edu 37 7 156743209 156743211 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:156743209_156743211delGAG ENST00000275820.3 + 1 793_795 c.778_780delGAG c.(778-780)del p.E264del NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 264 Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ggacgaaagtgaggaggaggagg 0.552 7 187 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 10 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - - T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr8:103289348_103289349insT ENST00000520539.1 - 45 6966_6967 c.6360_6361insA c.(6358-6363)aaaaggfs p.R2121fs UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2121 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E2121fs*28(2) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTTCCCCTTCTTTTTTTTGCC 0.381 8 677 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 8 304 --- --- --- --- SMARCA2 6595 broad.mit.edu 37 9 2039777 2039779 + In_Frame_Del DEL CAG CAG - rs113070757 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:2039777_2039779delCAG ENST00000382203.1 + 4 876_878 c.667_669delCAG c.(667-669)del p.Q238del SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 238 Poly-Gln. Missing (in Ref. 1; CAA51407). chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) gcagcagcaacagcagcagcagc 0.635 12 109 --- --- --- --- RLN2 6019 broad.mit.edu 37 9 5304560 5304561 + Frame_Shift_Ins INS - - A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:5304560_5304561insA ENST00000381627.3 - 1 408_409 c.20_21insT c.(19-21)tcafs p.S7fs RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs NM_134441.2 NP_604390.1 P04090 REL2_HUMAN relaxin 2 7 female pregnancy extracellular region hormone activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 11 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) CTAGCAGGTGGAAAAAAAACAG 0.535 8 507 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971095 21971096 + Frame_Shift_Ins INS - - CC rs121913384 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:21971095_21971096insCC ENST00000579755.1 - 2 597_598 c.305_306insGG c.(304-306)gggfs p.G102fs RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G102fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.G88fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G143fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.G88fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.G88fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.G88fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.E88A(1)|p.E88G(1)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.E88V(1)|p.V82_E88del(1)|p.E87K(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGGAAGCCCTCCCGGGCAGCG 0.757 E88*(CAL33_UPPER_AERODIGESTIVE_TRACT) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 18 55 --- --- --- --- DAB2IP 153090 broad.mit.edu 37 9 124522389 124522391 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:124522389_124522391delAAG ENST00000408936.3 + 6 1023_1025 c.841_843delAAG c.(841-843)del p.K285del DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del|DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 285 C2. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGAGACCGACAAGAAGAAGAAGA 0.601 8 321 --- --- --- --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T rs148250832 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:138715799_138715800insT ENST00000389532.4 - 10 1460_1461 c.1396_1397insA c.(1396-1398)cagfs p.Q466fs CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 466 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACTCACCTGGTTTTTTTTTCT 0.460 7 35 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:140087025_140087027delTCC ENST00000409012.4 - 2 1928_1930 c.1842_1844delGGA c.(1840-1845)gaa>ga p.EE620del TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 620 Glu-rich. sensory perception of sound stereocilium p.E315delE(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 ctcttcctcttcctcctcctcct 0.596 8 101 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr10:105727547_105727549delAGA ENST00000369755.3 + 1 589_591 c.44_46delAGA c.(43-48)gag>g p.EK15del SLK_ENST00000335753.4_In_Frame_Del_p.EK15del NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 15 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGGGGAGCGAGAAGAAGAAGAA 0.448 8 455 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 11 1171 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:6867223_6867225delTTC ENST00000299454.4 + 1 341_343 c.310_312delTTC c.(310-312)del p.F108del OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 7 528 --- --- --- --- PRDX5 25824 broad.mit.edu 37 11 64088369 64088370 + Frame_Shift_Ins INS - - G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:64088369_64088370insG ENST00000265462.4 + 4 599_600 c.471_472insG c.(469-474)ttggaafs p.E158fs PRDX5_ENST00000347941.4_Frame_Shift_Ins_p.E69fs|PRDX5_ENST00000352435.4_Frame_Shift_Ins_p.E114fs NM_012094.4 NP_036226.1 P30044 PRDX5_HUMAN peroxiredoxin 5 158 Thioredoxin. cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis cytosolic part|mitochondrion|peroxisome caspase inhibitor activity|peroxidase activity|peroxiredoxin activity breast(1)|kidney(1)|lung(1)|skin(1) 4 Auranofin(DB00995) CTGGGGCCTTTGGGAAGGTGAG 0.574 9 933 --- --- --- --- CCDC83 220047 broad.mit.edu 37 11 85623735 85623737 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:85623735_85623737delCTG ENST00000280245.4 + 9 1350_1352 c.838_840delCTG c.(838-840)del p.L283del CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Intron NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 265 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TCCTCGTCATCTGCTGCTGCTGC 0.512 7 949 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 9 589 --- --- --- --- KDM5A 5927 broad.mit.edu 37 12 416953 416953 + Frame_Shift_Del DEL T T - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:416953delT ENST00000399788.2 - 23 3959 c.3597delA c.(3595-3597)aafs p.K1199fs KDM5A_ENST00000382815.4_Frame_Shift_Del_p.K1199fs NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1199 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 AGCTGGATCCTTTTTTTTGGG 0.478 T NUP98 AML 12 530 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:56559113delG ENST00000394023.3 - 27 3326 c.3221delC c.(3220-3222)ctfs p.P1074fs RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.P1043fs NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1043 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) ATGGGGTCCAGGGGGGGGAAC 0.577 10 683 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88524078 88524079 + Frame_Shift_Ins INS - - T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:88524078_88524079insT ENST00000552810.1 - 9 978_979 c.635_636insA c.(634-636)atafs p.I212fs CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 212 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TAAGCTCATAGTTTTTTTTAGA 0.317 7 682 --- --- --- --- TRAV12-3 0 broad.mit.edu 37 14 22433684 22433684 + RNA DEL T T - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr14:22433684delT ENST00000390442.3 + 0 5 TTTGTTATTATTTTTTTTTCG 0.353 8 88 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514603 75514604 + Frame_Shift_Ins INS - - T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr14:75514603_75514604insT ENST00000355774.2 - 2 1970_1971 c.1755_1756insA c.(1753-1758)aaaatcfs p.I586fs MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 586 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTGCTAGATTCTTTTTTTTTCT 0.356 Mismatch excision repair (MMR) 7 449 --- --- --- --- IGHV3-11 0 broad.mit.edu 37 14 106573362 106573364 + RNA DEL ACC ACC - rs2003432 by1000genomes TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr14:106573362_106573364delACC ENST00000390601.2 - 0 339_341 ATATGGTACTACCACTACTACTA 0.522 11 899 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 9 397 --- --- --- --- IGDCC3 9543 broad.mit.edu 37 15 65621765 65621765 + Frame_Shift_Del DEL G G - rs145360224 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:65621765delG ENST00000327987.4 - 13 2419 c.2168delC c.(2167-2169)cgfs p.P723fs NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 723 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGCGCTGGCCGGGGGGAACAG 0.632 10 883 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93545433 93545434 + Frame_Shift_Ins INS - - A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:93545433_93545434insA ENST00000394196.4 + 33 5232_5233 c.4164_4165insA c.(4162-4167)ataaaafs p.IK1388fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1388 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAGTCCAATgaaaaaaaaaca 0.337 11 493 --- --- --- --- RAB40C 57799 broad.mit.edu 37 16 677518 677518 + Frame_Shift_Del DEL G G - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:677518delG ENST00000535977.1 + 7 964 c.742delG c.(742-744)ggfs p.G251fs RAB40C_ENST00000539661.1_Frame_Shift_Del_p.G251fs|RAB40C_ENST00000538492.1_Frame_Shift_Del_p.G251fs|RAB40C_ENST00000248139.3_Frame_Shift_Del_p.G251fs NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 251 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CAGCGGGGCCGGGGGCGGCGG 0.647 7 571 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:20370700_20370702delCCA ENST00000302451.4 - 12 1942_1944 c.1694_1696delTGG c.(1693-1698)gct>g p.VA565del NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 565 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTGGCTTAGCCACCACCACCAC 0.478 10 1107 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 11 1581 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32823636 32823637 + RNA INS - - C rs112857933 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:32823636_32823637insC ENST00000569859.1 + 0 373 TTGCTGGAGTGGATGTGACAGG 0.495 9 127 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77356311 77356311 + Frame_Shift_Del DEL A A - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:77356311delA ENST00000282849.5 - 14 2503 c.2085delT c.(2083-2085)ttfs p.F695fs NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 695 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A696fs*18(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGGACATTGCAAAAAAAAATT 0.403 7 438 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 7 132 --- --- --- --- KIAA0100 9703 broad.mit.edu 37 17 26966334 26966334 + Splice_Site DEL T T - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:26966334delT ENST00000528896.2 - 11 1302 c.1229_splice c.e11+1 p.R410_splice KIAA0100_ENST00000544884.1_Splice_Site_p.R267_splice|KIAA0100_ENST00000389003.3_Splice_Site_p.R267_splice NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 410 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CAGACTGACCTTTTTTTCCTT 0.438 7 392 --- --- --- --- RP11-115K3.2 0 broad.mit.edu 37 17 36214141 36214141 + RNA DEL A A - rs76035088 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:36214141delA ENST00000590732.1 - 0 325 NR_024178.1 CAGCaaaattaaaaaaaaaaa 0.328 7 72 --- --- --- --- HCRT 3060 broad.mit.edu 37 17 40336501 40336503 + In_Frame_Del DEL GCA GCA - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:40336501_40336503delGCA ENST00000293330.1 - 2 151_153 c.65_67delTGC c.(64-69)ccg>c p.LP22del NM_001524.1 NP_001515.1 O43612 OREX_HUMAN hypocretin (orexin) neuropeptide precursor 22 neuropeptide signaling pathway cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle p.L22delL(1) breast(1)|central_nervous_system(1) 2 all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069) BRCA - Breast invasive adenocarcinoma(366;0.124) AGCGCGGgcggcagcagcagcag 0.704 7 51 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 21 196 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65899951 65899951 + Frame_Shift_Del DEL A A - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:65899951delA ENST00000321892.4 + 10 3029 c.2968delA c.(2968-2970)aafs p.K992fs BPTF_ENST00000306378.6_Frame_Shift_Del_p.K866fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.K992fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.K853fs Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 992 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) ggagaaagtcaaaaaaaaaga 0.338 7 230 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141017 + RNA DEL C C - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:66141017delC ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAA 0.323 7 357 --- --- --- --- LAMA1 284217 broad.mit.edu 37 18 7034490 7034491 + Frame_Shift_Ins INS - - T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr18:7034490_7034491insT ENST00000389658.3 - 14 2131_2132 c.2038_2039insA c.(2038-2040)ggcfs p.G680fs NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 680 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTAAAGAGCCATTTTTGCAGAA 0.361 8 203 --- --- --- --- POLI 11201 broad.mit.edu 37 18 51795958 51795960 + In_Frame_Del DEL CGA CGA - rs140689079 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr18:51795958_51795960delCGA ENST00000579534.1 + 1 185_187 c.42_44delCGA c.(40-45)ggc>gg p.GD14del POLI_ENST00000406285.3_In_Frame_Del_p.GD14del|POLI_ENST00000579434.1_5'UTR NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 14 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding p.D17delD(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAGGCGGCGGCGACGACGACGAG 0.729 DNA polymerases (catalytic subunits) 10 4 --- --- --- --- LMAN1 3998 broad.mit.edu 37 18 57013193 57013194 + Frame_Shift_Ins INS - - T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr18:57013193_57013194insT ENST00000251047.5 - 8 1629_1630 c.912_913insA c.(910-915)aaaggafs p.G305fs NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 305 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TGGAATTCCTCTTTTTTTTTAT 0.455 9 262 --- --- --- --- ZADH2 284273 broad.mit.edu 37 18 72913980 72913980 + Frame_Shift_Del DEL T T - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr18:72913980delT ENST00000322342.3 - 2 814 c.525delA c.(523-525)aafs p.K175fs ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 175 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) TCACCAAAACTTTTTTCCCTT 0.517 9 1641 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1221313 1221314 + Frame_Shift_Ins INS - - C rs67873004 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:1221313_1221314insC ENST00000326873.7 + 6 2009_2010 c.836_837insC c.(835-837)gccfs p.A279fs NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 279 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.P281fs*6(2)|p.?(2)|p.G279F(1)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) 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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGACTGTGGCCCCCCGCTCT 0.604 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 25 41 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:11038362_11038364delGCT ENST00000586748.1 - 4 393_395 c.221_223delAGC c.(220-225)ccg>c p.QP74del YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 74 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAGAATCCCGgctgctgctgctg 0.621 7 271 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 10 832 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43428981 43428982 + RNA INS - - G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:43428981_43428982insG ENST00000406070.2 - 0 1340 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) tccagtctacagtggataataa 0.406 9 107 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 14 476 --- --- --- --- PNMAL1 55228 broad.mit.edu 37 19 46973195 46973197 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:46973195_46973197delCTT ENST00000313683.10 - 2 1401_1403 c.1096_1098delAAG c.(1096-1098)del p.K366del PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Splice_Site_p.K366_splice NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 366 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CCAAGCTCACCTTCTTCTTCTTC 0.562 7 1066 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 7 377 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 17 526 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 11 192 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 14 403 --- --- --- --- APP 351 broad.mit.edu 37 21 27394182 27394184 + In_Frame_Del DEL GTG GTG - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr21:27394182_27394184delGTG ENST00000358918.3 - 6 1036_1038 c.837_839delCAC c.(835-840)aca>ac p.TT279del APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 279 Poly-Thr. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) CACAGACTCTgtggtggtggtgg 0.522 7 221 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43218401 43218401 + Frame_Shift_Del DEL T T - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr22:43218401delT ENST00000263245.5 - 9 906 c.687delA c.(685-687)aafs p.K229fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 229 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 CCAAACTTCCTTTTTTGGCCC 0.423 11 788 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 9 450 --- --- --- --- MECP2 4204 broad.mit.edu 37 X 153363100 153363102 + In_Frame_Del DEL GCG GCG - TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:153363100_153363102delGCG ENST00000453960.2 - 1 75_77 c.21_23delCGC c.(19-24)gcg>gc p.AA7del MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR NM_001110792.1 NP_001104262.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 0 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCGCTCGGCgcggcggcggcgg 0.778 7 79 --- --- --- ---