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 ZKSCAN7 55888 broad.mit.edu 37 3 44611616 44611616 + Missense_Mutation SNP C C A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:44611616C>A ENST00000273320.3 + 6 1443 c.1014C>A c.(1012-1014)ttC>ttA p.F338L RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.F338L|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 AAAATGATTTCTTGGAAATAA 0.403000 34 739 8.4185e-14 9.32297e-14 1 1 0 RTN3 10313 broad.mit.edu 37 11 63486571 63486571 + Silent SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:63486571G>A ENST00000377819.5 + 3 751 c.597G>A c.(595-597)ttG>ttA p.L199L RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Silent_p.L180L|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Silent_p.L87L|RTN3_ENST00000356000.3_Intron NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 199 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 AAACTGCATTGGATGCTGATG 0.413000 8 387 0 0 1 0 0 SOAT1 6646 broad.mit.edu 37 1 179320574 179320574 + Missense_Mutation SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:179320574C>T ENST00000367619.3 + 15 1716 c.1573C>T c.(1573-1575)Cgt>Tgt p.R525C SOAT1_ENST00000535686.1_Missense_Mutation_p.R261C|SOAT1_ENST00000540564.1_Missense_Mutation_p.R467C|SOAT1_ENST00000539888.1_Missense_Mutation_p.R460C NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 525 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) ATGGTATGCACGTCAGCACTG 0.433000 86 904 0 0 1 0 0 CD44 960 broad.mit.edu 37 11 35227738 35227738 + Silent SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:35227738C>T ENST00000428726.2 + 11 1485 c.1362C>T c.(1360-1362)ttC>ttT p.F454F CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000433354.2_Silent_p.F455F|CD44_ENST00000526669.2_Intron|CD44_ENST00000415148.2_Silent_p.F411F|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Silent_p.F411F|CD44_ENST00000360158.4_Intron|CD44_ENST00000437706.2_Silent_p.F454F NM_000610.3 NP_000601.3 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 454 Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) CTGATTTCTTCAACCCAATCT 0.468000 51 609 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48654515 48654515 + Missense_Mutation SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:48654515G>A ENST00000263274.7 - 7 967 c.548C>T c.(547-549)aCg>aTg p.T183M LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Missense_Mutation_p.T152M|LIG1_ENST00000536218.1_Intron NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 183 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CTTGGGAGGCGTGGTGGGCTG 0.567000 Nucleotide excision repair (NER) 66 1121 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165832222 165832222 + Missense_Mutation SNP A A T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:165832222A>T ENST00000366882.1 - 12 1023 c.869T>A c.(868-870)tTc>tAc p.F290Y PDE10A_ENST00000354448.4_Missense_Mutation_p.F290Y|PDE10A_ENST00000539869.2_Missense_Mutation_p.F300Y Q9Y233 PDE10_HUMAN phosphodiesterase 10A 290 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GTCCACCTGGAAAAGCGCACA 0.388000 30 270 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6262838 6262838 + Silent SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:6262838G>A ENST00000379936.2 + 5 1210 c.1095G>A c.(1093-1095)caG>caA p.Q365Q CNGA4_ENST00000533426.1_Silent_p.Q134Q NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 365 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAAGCTGCAGCCCCAGACCT 0.567000 59 1011 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 29 441 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 7 222 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 18 128 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105456665 105456665 + Splice_Site SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr8:105456665C>T ENST00000351513.2 - 4 736 c.603_splice c.e4-1 p.G202_splice NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 202 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TTCTTTGCTCCCTAAAAAGAC 0.478000 13 209 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42821981 42821981 + Missense_Mutation SNP T T A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:42821981T>A ENST00000598766.1 + 12 1093 c.1093T>A c.(1093-1095)Ttt>Att p.F365I TMEM145_ENST00000301204.3_Missense_Mutation_p.F341I Q8NBT3 TM145_HUMAN transmembrane protein 145 341 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) ACTGCGACACTTTCCTGAGAA 0.587000 59 583 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112681218 112681218 + Nonsense_Mutation SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr12:112681218G>A ENST00000550722.1 - 32 4854 c.4459C>T c.(4459-4461)Cga>Tga p.R1487* HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R1461*|HECTD4_ENST00000430131.2_Nonsense_Mutation_p.R1211* NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CCCCCGACTCGTACGGCAGCT 0.547000 5 101 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 20 603 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6710823 6710823 + Missense_Mutation SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:6710823G>A ENST00000245907.6 - 13 1605 c.1513C>T c.(1513-1515)Cgc>Tgc p.R505C NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 505 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CGCACCTGGCGTCCCGCCTTC 0.652000 13 357 0 0 1 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19212958 19212958 + Splice_Site SNP C C A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:19212958C>A ENST00000375341.3 - 4 554 c.297_splice c.e4+1 p.K99_splice ALDH4A1_ENST00000538839.1_Splice_Site_p.K99_splice|ALDH4A1_ENST00000538309.1_Splice_Site_p.K39_splice|ALDH4A1_ENST00000290597.5_Splice_Site_p.K99_splice|RP13-279N23.2_ENST00000494072.3_3'UTR NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 99 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) GCTCACTCACCTTGTCTGCAT 0.587000 22 207 6.36457e-07 6.71538e-07 1 1 0 SH3BP4 23677 broad.mit.edu 37 2 235949561 235949561 + Missense_Mutation SNP A A C rs138775253 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:235949561A>C ENST00000409212.1 + 4 655 c.148A>C c.(148-150)Aac>Cac p.N50H SH3BP4_ENST00000344528.4_Missense_Mutation_p.N50H|SH3BP4_ENST00000392011.2_Missense_Mutation_p.N50H Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 50 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) GCTCGTAGACAACCCCACACC 0.532000 33 512 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55214348 55214348 + Silent SNP C C T rs2072454 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:55214348C>T ENST00000275493.2 + 4 651 c.474C>T c.(472-474)aaC>aaT p.N158N EGFR_ENST00000344576.2_Silent_p.N158N|EGFR_ENST00000420316.2_Silent_p.N158N|EGFR_ENST00000342916.3_Silent_p.N158N|EGFR_ENST00000442591.1_Silent_p.N158N|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000454757.2_Silent_p.N105N NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 158 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.N158N(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCCTGTGCAACGTGGAGAGCA 0.547000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 8 373 0 0 1 0 0 ANXA11 311 broad.mit.edu 37 10 81930573 81930573 + Missense_Mutation SNP C C A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:81930573C>A ENST00000438331.1 - 5 636 c.154G>T c.(154-156)Gac>Tac p.D52Y ANXA11_ENST00000535999.1_Missense_Mutation_p.D52Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D52Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D19Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D52Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D52Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D52Y NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 52 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) GAGAGATAGTCCTGGTTGAAC 0.652000 19 330 1.2644e-06 1.31341e-06 1 1 0 PTPRT 11122 broad.mit.edu 37 20 41101179 41101179 + Missense_Mutation SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr20:41101179C>T ENST00000373198.3 - 8 1412 c.1177G>A c.(1177-1179)Gtg>Atg p.V393M PTPRT_ENST00000356100.2_Missense_Mutation_p.V393M|PTPRT_ENST00000373201.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373187.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373184.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373190.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373193.3_Missense_Mutation_p.V393M NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 393 Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACGATTTCCACGTTCTGTGGG 0.562000 13 291 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65226641 65226641 + RNA SNP G G T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:65226641G>T ENST00000442266.1 + 0 1167 AGGTTCTTGCGCAGAATTCTG 0.383000 5 163 0.184627 0.186015 1 1 0 USP48 84196 broad.mit.edu 37 1 22030753 22030753 + Splice_Site SNP A A G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:22030753A>G ENST00000308271.9 - 20 3164 c.e20+1 USP48_ENST00000400301.1_Splice_Site|USP48_ENST00000529637.1_Splice_Site|USP48_ENST00000374732.3_Splice_Site NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) ATGAAAACTTACTGGGCTCAG 0.368000 36 416 0 0 1 0 0 S1PR2 9294 broad.mit.edu 37 19 10334708 10334708 + Missense_Mutation SNP T T C TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:10334708T>C ENST00000590320.1 - 2 984 c.874A>G c.(874-876)Agc>Ggc p.S292G NM_004230.3 NP_004221.3 O95136 S1PR2_HUMAN sphingosine-1-phosphate receptor 2 292 activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 AGGTCCCGGCTGCGCCACGTG 0.687000 10 236 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 10 428 0 0 1 0 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403554 143403554 + RNA SNP T T G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:143403554T>G ENST00000423249.1 - 0 59 GGAACAGGATTTCTTTGGCCA 0.468000 11 85 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 14 147 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084295 26084295 + RNA SNP C C T rs76611503 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr20:26084295C>T ENST00000478176.1 - 0 162 NR_003678.1 p.G41R(1) TGTTTGCCTCCAAATGCTGGA 0.373000 12 319 0 0 1 0 0 SPATC1 375686 broad.mit.edu 37 8 145096207 145096207 + Missense_Mutation SNP A A G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr8:145096207A>G ENST00000377470.3 + 4 1483 c.1381A>G c.(1381-1383)Atc>Gtc p.I461V SPATC1_ENST00000447830.2_Intron NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 461 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTGTCCAGCATCTTCCCAGA 0.632000 18 192 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 11 488 0 0 1 0 0 NR4A2 0 broad.mit.edu 37 2 157186342 157186342 + Silent SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:157186342C>T ENST00000339562.4 - 3 719 c.357G>A c.(355-357)tcG>tcA p.S119S NR4A2_ENST00000426264.1_Silent_p.S56S|NR4A2_ENST00000409572.1_Silent_p.S119S|NR4A2_ENST00000539077.1_Silent_p.S130S|NR4A2_ENST00000409108.2_Silent_p.S119S|NR4A2_ENST00000429376.1_Silent_p.S56S NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 119 Gln-rich. cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 TGTAGTAAACCGACCCGGAGT 0.612000 46 545 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518661 108518661 + Missense_Mutation SNP T T C TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr13:108518661T>C ENST00000375915.2 - 1 422 c.284A>G c.(283-285)cAg>cGg p.Q95R NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 95 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ctgccgccgctgctgctgctg 0.731000 7 235 0 0 1 0 0 LACE1 246269 broad.mit.edu 37 6 108768484 108768484 + Missense_Mutation SNP G G T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:108768484G>T ENST00000368977.4 + 8 1061 c.875G>T c.(874-876)gGa>gTa p.G292V NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 292 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) CCTGCTGCAGGAAAACTCTAC 0.323000 23 263 2.98393e-07 3.17339e-07 1 1 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 20 166 0 0 1 0 0 PSG8 0 broad.mit.edu 37 19 43268187 43268187 + Missense_Mutation SNP T T C TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:43268187T>C ENST00000404209.4 - 2 407 c.311A>G c.(310-312)aAt>aGt p.N104S PSG8_ENST00000306511.4_Missense_Mutation_p.N104S|PSG8_ENST00000401467.2_Missense_Mutation_p.N104S|PSG8_ENST00000406636.3_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 104 Ig-like V-type. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) CAGGGATGCATTGGAATATAT 0.423000 232 2549 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168199801 168199801 + Missense_Mutation SNP T T C TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:168199801T>C ENST00000519560.1 - 14 1863 c.1444A>G c.(1444-1446)Aag>Gag p.K482E SLIT3_ENST00000332966.8_Missense_Mutation_p.K482E|SLIT3_ENST00000404867.3_Missense_Mutation_p.K482E NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 482 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGCGGAACTTCTTGCTCTTG 0.612000 10 363 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 12 173 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22892513 22892513 + Missense_Mutation SNP A A C TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr22:22892513A>C ENST00000543184.1 - 4 1450 c.588T>G c.(586-588)atT>atG p.I196M PRAME_ENST00000398743.2_Missense_Mutation_p.I196M|PRAME_ENST00000398741.1_Missense_Mutation_p.I196M|PRAME_ENST00000405655.3_Missense_Mutation_p.I196M|PRAME_ENST00000424204.2_Missense_Mutation_p.I180M|PRAME_ENST00000539862.1_Missense_Mutation_p.I180M|PRAME_ENST00000402697.1_Missense_Mutation_p.I196M NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 196 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TCACTTTCTCAATGAGGTAGG 0.458000 46 718 0 0 1 0 0 AC112229.4 0 broad.mit.edu 37 2 111144370 111144370 + RNA SNP T T C TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:111144370T>C ENST00000606848.1 - 0 1370 GGCAGCACCATAGTGGCGGCC 0.622000 4 31 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 11 552 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179476557 179476557 + Missense_Mutation SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:179476557G>A ENST00000589042.1 - 268 50703 c.50479C>T c.(50479-50481)Cgg>Tgg p.R16827W TTN_ENST00000342992.6_Missense_Mutation_p.R14259W|TTN_ENST00000591111.1_Missense_Mutation_p.R15186W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7762W|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7887W|TTN_ENST00000342175.6_Missense_Mutation_p.R7954W NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15186 Ig-like 101. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R7762W(1)|p.R7954W(1)|p.R14259W(1)|p.R7887W(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTCAGCCCGAACCTGAAAC 0.458000 39 693 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 7 274 0 0 1 0 0 EMC8 10328 broad.mit.edu 37 16 85832764 85832764 + Silent SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr16:85832764G>A ENST00000253457.3 - 1 382 c.138C>T c.(136-138)ggC>ggT p.G46G EMC8_ENST00000435200.2_Silent_p.G46G NM_006067.4 NP_006058.1 ER membrane protein complex subunit 8 GGGCGCCGGGGCCGCCCAGGG 0.697000 6 93 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 13 59 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084296 26084296 + RNA SNP A A G rs61752037 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr20:26084296A>G ENST00000478176.1 - 0 161 NR_003678.1 p.F40F(1) GTTTGCCTCCAAATGCTGGAT 0.378000 15 313 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 14 283 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 7 319 2.0095e-06 2.07133e-06 1 1 0 GGTLC1 92086 broad.mit.edu 37 20 23966551 23966551 + Missense_Mutation SNP C C T rs143742821 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr20:23966551C>T ENST00000335694.4 - 4 569 c.365G>A c.(364-366)cGg>cAg p.R122Q GGTLC1_ENST00000286890.4_Missense_Mutation_p.R122Q|GGTLC1_ENST00000278765.4_Missense_Mutation_p.R122Q NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 122 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 CACCACCATCCGGACCTGGCC 0.662000 56 848 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69973005 69973005 + Missense_Mutation SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr16:69973005G>A ENST00000359154.2 + 22 2520 c.2419G>A c.(2419-2421)Ggg>Agg p.G807R WWP2_ENST00000568684.1_Missense_Mutation_p.G368R|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.G807R|WWP2_ENST00000542271.1_Missense_Mutation_p.G691R|WWP2_ENST00000356003.2_Missense_Mutation_p.G807R NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 807 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCTGCCCGTCGGGGGATTTGC 0.597000 8 71 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2341323 2341323 + Silent SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr4:2341323C>T ENST00000290974.2 - 4 717 c.378G>A c.(376-378)ccG>ccA p.P126P ZFYVE28_ENST00000515169.1_Silent_p.P56P|ZFYVE28_ENST00000503000.1_Silent_p.P126P|ZFYVE28_ENST00000511071.1_Silent_p.P126P|ZFYVE28_ENST00000509171.1_Silent_p.P79P|ZFYVE28_ENST00000515312.1_Silent_p.P56P NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 126 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CCTTGGCCAGCGGGCGCATGG 0.692000 5 72 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43888232 43888232 + Silent SNP G G T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:43888232G>T ENST00000562955.1 + 13 1851 c.1851G>T c.(1849-1851)ctG>ctT p.L617L NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 617 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 ACTCCTCCCTGACCTCTCTGC 0.582000 30 503 8.58068e-18 9.66228e-18 1 1 0 FCGR2B 2213 broad.mit.edu 37 1 161645099 161645099 + Missense_Mutation SNP A A T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:161645099A>T ENST00000367962.4 + 6 940 c.813A>T c.(811-813)aaA>aaT p.K271N FCGR2B_ENST00000236937.9_Intron|FCGR2B_ENST00000367961.4_Missense_Mutation_p.K264N|FCGR2B_ENST00000358671.5_Missense_Mutation_p.K271N|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Missense_Mutation_p.K264N P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 271 immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCCCTGAGAAACCAGGTGAGT 0.602000 T ? ALL 11 81 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39749752 39749752 + Missense_Mutation SNP G G T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:39749752G>T ENST00000564288.1 + 10 1707 c.930G>T c.(928-930)agG>agT p.R310S MACF1_ENST00000567887.1_Missense_Mutation_p.R347S|MACF1_ENST00000539005.1_Missense_Mutation_p.R315S|MACF1_ENST00000372915.3_Missense_Mutation_p.R315S|MACF1_ENST00000317713.7_Missense_Mutation_p.R315S|MACF1_ENST00000545844.1_Missense_Mutation_p.R315S|MACF1_ENST00000361689.2_Missense_Mutation_p.R315S Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 315 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) TGGACTCCAGGTGGCAAGAAT 0.443000 28 527 1.77063e-15 1.97721e-15 1 1 0 IL9R 3581 broad.mit.edu 37 X 155239824 155239824 + Missense_Mutation SNP A A G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chrX:155239824A>G ENST00000424344.3 + 10 1620 c.1253A>G c.(1252-1254)aAc>aGc p.N418S IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.N439S Q01113 IL9R_HUMAN interleukin 9 receptor 439 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity p.N439S(1) NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) agcagcagcaacaacaacaAC 0.642000 10 94 0 0 1 0 0 RP11-108K14.8 0 broad.mit.edu 37 10 135215660 135215660 + Missense_Mutation SNP A A G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:135215660A>G ENST00000468317.2 + 9 851 c.596A>G c.(595-597)gAg>gGg p.E199G MTG1_ENST00000477902.2_Missense_Mutation_p.E153G|MTG1_ENST00000317502.6_Missense_Mutation_p.E194G CAGGTCTCTGAGCGGCCCCTG 0.657000 58 844 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 12 525 0 0 1 0 0 CEP70 80321 broad.mit.edu 37 3 138289266 138289266 + Missense_Mutation SNP T T C rs143423470 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:138289266T>C ENST00000264982.3 - 6 625 c.359A>G c.(358-360)gAa>gGa p.E120G CEP70_ENST00000464035.1_Missense_Mutation_p.E120G|CEP70_ENST00000542237.1_Missense_Mutation_p.E100G|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Missense_Mutation_p.E120G|CEP70_ENST00000481834.1_Missense_Mutation_p.E120G|CEP70_ENST00000478673.1_5'UTR NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 120 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TTTCACACTTTCCATAATTTG 0.363000 104 520 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6718398 6718398 + Nonsense_Mutation SNP G G C TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:6718398G>C ENST00000245907.6 - 3 385 c.293C>G c.(292-294)tCa>tGa p.S98* NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 98 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CCCCTTTTCTGACTTGAACTC 0.617000 22 471 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21689881 21689881 + Missense_Mutation SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr20:21689881G>A ENST00000398485.2 + 4 1135 c.1081G>A c.(1081-1083)Gtg>Atg p.V361M PAX1_ENST00000444366.2_Missense_Mutation_p.V337M|PAX1_ENST00000460221.1_3'UTR NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 361 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 CCTCTCTGCCGTGGGCGGCTT 0.697000 47 1309 0 0 1 0 0 IGHD 0 broad.mit.edu 37 14 106311716 106311716 + RNA SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr14:106311716C>T ENST00000390556.2 - 0 294 ACCTGGCCAGCGGAAGATCTC 0.627000 17 188 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 11 649 0 0 1 0 0 CLIP4 79745 broad.mit.edu 37 2 29404502 29404502 + Missense_Mutation SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:29404502G>A ENST00000320081.5 + 16 2116 c.1861G>A c.(1861-1863)Gtg>Atg p.V621M CLIP4_ENST00000401617.2_Missense_Mutation_p.V514M|CLIP4_ENST00000481628.1_3'UTR|CLIP4_ENST00000404424.1_Missense_Mutation_p.V621M NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 621 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) TGAAGGGAGCGTGAAGCTGCA 0.542000 11 388 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 19 452 0 0 1 0 0 TM9SF1 10548 broad.mit.edu 37 14 24659700 24659700 + Missense_Mutation SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr14:24659700G>A ENST00000530611.1 - 9 1973 c.1940C>T c.(1939-1941)gCc>gTc p.A647V TM9SF1_ENST00000396854.4_Missense_Mutation_p.A438V|TM9SF1_ENST00000261789.4_Missense_Mutation_p.A438V|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A438V|TM9SF1_ENST00000524835.1_Missense_Mutation_p.A351V|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A647V O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 438 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1) 24 GBM - Glioblastoma multiforme(265;0.0183) AAAGGGGCTGGCGTTGTTCTT 0.577000 37 443 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) 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) GAGGGGTGGCGTGACCTGTGG 0.597000 16 10 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10785352 10785352 + Missense_Mutation SNP A A C TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:10785352A>C ENST00000361367.2 + 9 1546 c.1120A>C c.(1120-1122)Aat>Cat p.N374H NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 374 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TTATCCTAATAATTACGAAAC 0.358000 28 504 0 0 1 0 0 BEX2 84707 broad.mit.edu 37 X 102564742 102564742 + Missense_Mutation SNP G G A rs149711551 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chrX:102564742G>A ENST00000536889.1 - 3 616 c.259C>T c.(259-261)Cgg>Tgg p.R87W BEX2_ENST00000372674.1_Missense_Mutation_p.R55W|BEX2_ENST00000372677.3_Missense_Mutation_p.R55W NM_001168399.1|NM_001168400.1 NP_001161871.1|NP_001161872.1 Q9BXY8 BEX2_HUMAN brain expressed X-linked 2 55 apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle cytoplasm|nucleus endometrium(1)|lung(1)|ovary(1) 3 ACGCGGAACCGCCTACGGTTT 0.478000 43 926 0 0 1 0 0 INSL4 3641 broad.mit.edu 37 9 5233847 5233847 + Silent SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr9:5233847C>T ENST00000239316.4 + 2 495 c.390C>T c.(388-390)gaC>gaT p.D130D NM_002195.1 NP_002186.1 Q14641 INSL4_HUMAN insulin-like 4 (placenta) 130 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding endometrium(2)|lung(2)|skin(1)|urinary_tract(1) 6 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) TAATTTGTGACGATGGAACTT 0.378000 11 193 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 6 263 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D 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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 12 130 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 6 95 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e 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_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q 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 18 357 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20768012 20768012 + Missense_Mutation SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:20768012C>T ENST00000404938.2 + 23 3453 c.2801C>T c.(2800-2802)gCg>gTg p.A934V ABCB5_ENST00000258738.6_Missense_Mutation_p.A489V NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 489 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.A489V(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TTTGCCTATGCGGCAGGGTTT 0.423000 53 531 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 19 271 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577114 7577114 + Missense_Mutation SNP C C A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:7577114C>A ENST00000420246.2 - 8 956 c.824G>T c.(823-825)tGt>tTt p.C275F TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 275 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and 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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) AGGACAGGCACAAACACGCAC 0.552000 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) 16 198 9.16793e-09 9.98783e-09 1 1 0 CKAP5 9793 broad.mit.edu 37 11 46782199 46782199 + Missense_Mutation SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:46782199G>A ENST00000529230.1 - 33 4403 c.4357C>T c.(4357-4359)Cgc>Tgc p.R1453C CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1453 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding p.R1453C(1) breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GGTCCCTTGCGTAACATGTTG 0.483000 35 307 0 0 1 0 0 ZC2HC1A 51101 broad.mit.edu 37 8 79627515 79627515 + Missense_Mutation SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr8:79627515G>A ENST00000263849.4 + 8 866 c.764G>A c.(763-765)gGt>gAt p.G255D NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 255 CCTGCCCCAGGTGTGCTTACA 0.358000 11 249 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40677757 40677757 + Silent SNP G G A rs146103273 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr12:40677757G>A ENST00000298910.7 + 19 2380 c.2322G>A c.(2320-2322)gcG>gcA p.A774A LRRK2_ENST00000343742.2_Silent_p.A774A NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 774 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TACGAAAAGCGTTGACGATAA 0.433000 70 554 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103299607 103299607 + Silent SNP A A G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr13:103299607A>G ENST00000376052.3 + 21 2557 c.2541A>G c.(2539-2541)ttA>ttG p.L847L TPP2_ENST00000376065.4_Silent_p.L847L P29144 TPP2_HUMAN tripeptidyl peptidase II 847 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTGAACTATTATATGAATCTG 0.368000 21 217 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16958769 16958769 + RNA SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:16958769C>T ENST00000412962.1 - 0 74 CTGAAGCTCACCAGGGCCTCA 0.622000 24 132 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70935662 70935662 + Missense_Mutation SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:70935662C>T ENST00000357250.6 - 37 2712 c.2554G>A c.(2554-2556)Ggt>Agt p.G852S COL9A1_ENST00000320755.7_Missense_Mutation_p.G609S|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G609S NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 852 Triple-helical region (COL1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CCAGGCAAACCGTTGGGACCT 0.428000 19 450 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 24 601 0 0 1 0 0 ARX 170302 broad.mit.edu 37 X 25033684 25033684 + Silent SNP G G A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chrX:25033684G>A ENST00000379044.4 - 1 381 c.171C>T c.(169-171)cgC>cgT p.R57R NM_139058.2 NP_620689.1 Q96QS3 ARX_HUMAN aristaless related homeobox 57 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(1) 4 CCGGGTCGGCGCGGCTGGTCA 0.627000 13 96 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971003 21971003 + Missense_Mutation SNP C C T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr9:21971003C>T ENST00000304494.5 - 2 625 c.355G>A c.(355-357)Gag>Aag p.E119K CDKN2A_ENST00000479692.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000579755.1_Silent_p.*133*|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000361570.3_Silent_p.*174*|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000530628.2_Silent_p.*133*|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E68K|RP11-145E5.5_ENST00000404796.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 119 E -> Q (in a biliary tract tumor). 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.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(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) CCCAGCTCCTCAGCCAGGTCC 0.726000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 22 206 0 0 1 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700532 700532 + RNA DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:700532delT ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453 8 52 --- --- --- --- FAM41C 0 broad.mit.edu 37 1 809877 809878 + RNA INS - - TAAAG TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:809877_809878insTAAAG ENST00000446136.1 - 0 815_816 NR_027055.1 GTTTTGCCTAATATTTTCACAG 0.455 7 143 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 7 1262 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCATCTGCTACTGTTTTTTTCA 0.455 7 1514 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 8 367 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 15 729 --- --- --- --- NDC1 55706 broad.mit.edu 37 1 54298190 54298192 + In_Frame_Del DEL TTA TTA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:54298190_54298192delTTA ENST00000371429.3 - 3 849_851 c.251_253delTAA c.(250-255)agt>a p.IS84del NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000480952.1_5'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin TTGAAAATACTTATTATTATTAT 0.305 13 239 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del 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 12 1473 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 8 208 --- --- --- --- LPAR3 23566 broad.mit.edu 37 1 85331664 85331665 + Frame_Shift_Ins INS - - A rs76299065 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e 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 16 861 --- --- --- --- GBP5 115362 broad.mit.edu 37 1 89732166 89732166 + Frame_Shift_Del DEL T T - rs34148688 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:89732166delT ENST00000343435.5 - 7 1267 c.731delA c.(730-732)agfs p.K244fs GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Frame_Shift_Del_p.K244fs NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 244 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TTGGGCAAGCTTTTTTTGGTG 0.388 10 1018 --- --- --- --- ZNF326 284695 broad.mit.edu 37 1 90470782 90470784 + In_Frame_Del DEL GTG GTG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:90470782_90470784delGTG ENST00000340281.4 + 4 331_333 c.188_190delGTG c.(187-192)agt>a p.SG63del ZNF326_ENST00000370447.2_In_Frame_Del_p.SG63del|ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000361911.5_In_Frame_Del_p.SG63del NM_182976.2 NP_892021.1 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 63 Gly-rich.|Mediates transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) GACAATCACAGTGGTGGTGGTGG 0.409 7 613 --- --- --- --- ZNF644 84146 broad.mit.edu 37 1 91406039 91406040 + Frame_Shift_Ins INS - - T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:91406039_91406040insT ENST00000370440.1 - 3 1088_1089 c.871_872insA c.(871-873)aaafs p.K291fs ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTTTCGCTTTCTTTTTTTTTCT 0.337 7 480 --- --- --- --- VANGL1 81839 broad.mit.edu 37 1 116206682 116206682 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:116206682delT ENST00000355485.2 + 4 876 c.605delT c.(604-606)ctfs p.L202fs VANGL1_ENST00000369509.1_Frame_Shift_Del_p.L202fs|VANGL1_ENST00000369510.3_Frame_Shift_Del_p.L200fs|VANGL1_ENST00000310260.3_Frame_Shift_Del_p.L202fs NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 202 L -> F (in NTD; uncertain pathogenicity). multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TCCTATTGGCTTTTTTACGGG 0.498 7 1242 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 29 139 --- --- --- --- RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 9 66 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 14 74 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 14 107 --- --- --- --- NBPF10 100132406 broad.mit.edu 37 1 145367734 145367739 + In_Frame_Del DEL GGGAAA GGGAAA - rs146714035 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:145367734_145367739delGGGAAA ENST00000342960.5 + 83 10365_10370 c.10330_10335delGGGAAA c.(10330-10335)del p.GK3444del NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3444 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) gaaggggaaggggaaaaaaagaaggg 0.417 9 456 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152086555 152086556 + Translation_Start_Site INS - - T rs141946179 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:152086555_152086556insT ENST00000368804.1 - 0 0_1 NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGTGGAGACATTTTTTTTTCT 0.361 8 322 --- --- --- --- LCE1F 353137 broad.mit.edu 37 1 152749003 152749008 + In_Frame_Del DEL TGGCTC TGGCTC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:152749003_152749008delTGGCTC ENST00000334371.2 + 1 156_161 c.156_161delTGGCTC c.(154-162)tgc>tg p.CGS52del NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 52 keratinization kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GAGGCTGCTGTGGCTCCAGCTCTGGG 0.680 17 631 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 20 576 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCATCAAATCTAAAAGAAAAAA 0.381 7 395 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGGCTGCGTCCACCACCACCAC 0.601 14 1382 --- --- --- --- ASTN1 460 broad.mit.edu 37 1 176983938 176983938 + Frame_Shift_Del DEL C C - rs142372166 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:176983938delC ENST00000367654.2 - 8 1549 c.1536delG c.(1534-1536)ggfs p.G512fs ASTN1_ENST00000424564.2_Frame_Shift_Del_p.G504fs|ASTN1_ENST00000361833.2_Frame_Shift_Del_p.G504fs|ASTN1_ENST00000367657.3_Frame_Shift_Del_p.G504fs|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 512 cell migration|neuron cell-cell adhesion integral to membrane p.G504G(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CCTGGTTTGTCCCCCATTCGT 0.493 7 2916 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del RGL1_ENST00000367531.1_Intron|RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 9 1250 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276524 186276526 + In_Frame_Del DEL AGG AGG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:186276524_186276526delAGG ENST00000445192.2 + 7 1718_1720 c.1673_1675delAGG c.(1672-1677)aag>a p.KE558del PRG4_ENST00000367485.4_In_Frame_Del_p.KE465del|PRG4_ENST00000367486.3_In_Frame_Del_p.KE515del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.KE517del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 558 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCACCACCAAGGAGCCTGCACC 0.635 8 1044 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276542 186276544 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:186276542_186276544delCTC ENST00000445192.2 + 7 1736_1738 c.1691_1693delCTC c.(1690-1695)acc>a p.TP564del PRG4_ENST00000367485.4_In_Frame_Del_p.TP471del|PRG4_ENST00000367486.3_In_Frame_Del_p.TP521del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.TP523del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 564 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GCACCCACCACTCCCAAGGAGCC 0.640 18 960 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954 Gln-rich. snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 12 845 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 15 445 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 12 296 --- --- --- --- PUM2 23369 broad.mit.edu 37 2 20482977 20482979 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:20482977_20482979delGCT ENST00000361078.2 - 11 1471_1473 c.1449_1451delAGC c.(1447-1452)gct>gc p.AA483del PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del|PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 483 Ala-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTTCCTCCAGCTGCTGCTGCTG 0.424 10 499 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39074185 39074185 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:39074185delA ENST00000295373.6 - 11 2321 c.2195delT c.(2194-2196)tgfs p.L732fs NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 732 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) TGCATCTTCCAAAAAAAATTG 0.363 10 216 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 7 287 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 11 533 --- --- --- --- MOGS 7841 broad.mit.edu 37 2 74690035 74690035 + Frame_Shift_Del DEL G G - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:74690035delG ENST00000233616.4 - 4 1043 c.881delC c.(880-882)ctfs p.P294fs MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000452063.2_Frame_Shift_Del_p.P188fs|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 294 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GTAGCGTTCAGGGGGGGCCCC 0.587 8 1481 --- --- --- --- RNF103 7844 broad.mit.edu 37 2 86831015 86831015 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:86831015delT ENST00000237455.4 - 4 2977 c.2009delA c.(2008-2010)agfs p.K670fs CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 670 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 ATATGGCTGCTTTTTTTTATA 0.443 8 779 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89082220 89082223 + RNA DEL TGAT TGAT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:89082220_89082223delTGAT ENST00000393525.3 + 0 474 TGTGTACATATGATTGATTATGTA 0.328 8 202 --- --- --- --- MRPS5 64969 broad.mit.edu 37 2 95775728 95775728 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:95775728delT ENST00000272418.2 - 4 544 c.336delA c.(334-336)aafs p.K112fs NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 112 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TGCCTCTTCCTTTTTTTGCTC 0.383 9 983 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e 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 10 600 --- --- --- --- EIF5B 9669 broad.mit.edu 37 2 99977775 99977777 + In_Frame_Del DEL TGA TGA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e 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 7 756 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100218011 100218013 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:100218011_100218013delGCT ENST00000317233.4 - 13 1490_1492 c.1255_1257delAGC c.(1255-1257)del p.S419del AFF3_ENST00000409236.1_In_Frame_Del_p.S419del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 419 Poly-Ser. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 tgctgctgccgctgctgctgctg 0.685 9 88 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 7 259 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087914 109087914 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:109087914delT ENST00000309863.6 + 6 2843 c.2129delT c.(2128-2130)gtfs p.V710fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 710 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 GATTTGGAGGTTTTTTTGTCT 0.299 8 1753 --- --- --- --- SEPT10 151011 broad.mit.edu 37 2 110301827 110301828 + Frame_Shift_Ins INS - - T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:110301827_110301828insT ENST00000356688.4 - 12 1821_1822 c.1506_1507insA c.(1504-1509)aatagafs p.NR502fs SEPT10_ENST00000437928.1_3'UTR|SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR Q9P0V9 SEP10_HUMAN septin 10 0 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 CACACTTCTAGTTTTTTTTTAA 0.317 8 268 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 11 724 --- --- --- --- TRMT10C 54931 broad.mit.edu 37 3 101284009 101284009 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:101284009delA ENST00000309922.6 + 2 538 c.384delA c.(382-384)gcfs p.A128fs NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) CTAACACAGCaaaaaaaaaat 0.343 16 299 --- --- --- --- DZIP3 9666 broad.mit.edu 37 3 108363319 108363319 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:108363319delA ENST00000361582.3 + 14 1680 c.1450delA c.(1450-1452)aafs p.K485fs DZIP3_ENST00000463306.1_Frame_Shift_Del_p.K485fs NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 485 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 CCCTGCACCCAAAAAAGGATG 0.408 8 842 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 17 643 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 7 310 --- --- --- --- PCOLCE2 26577 broad.mit.edu 37 3 142548586 142548586 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:142548586delT ENST00000295992.3 - 6 1119 c.813delA c.(811-813)aafs p.K271fs PCOLCE2_ENST00000485766.1_Intron NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 271 extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 TTGTAGGCAGTTTTTTTGGCC 0.383 7 975 --- --- --- --- CTD-2049J23.2 0 broad.mit.edu 37 3 159819452 159819453 + RNA DEL AG AG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:159819452_159819453delAG ENST00000497452.1 - 0 517 GGCTGCTGGCAGAGAGAGAGGA 0.465 7 1442 --- --- --- --- FXR1 0 broad.mit.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:180666228delA ENST00000357559.4 + 5 748 c.364delA c.(364-366)aafs p.K123fs FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 123 apoptosis|cell differentiation|muscle organ development nucleolus|polysome p.N124fs*14(1) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TAAAACTGTCAAAAAAAATAC 0.333 10 418 --- --- --- --- YEATS2 55689 broad.mit.edu 37 3 183493803 183493805 + In_Frame_Del DEL AGG AGG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:183493803_183493805delAGG ENST00000305135.5 + 18 2664_2666 c.2469_2471delAGG c.(2467-2472)aca>ac p.TG823del NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 823 Gly-rich. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) gcggcagcacaggaggaggagga 0.601 7 366 --- --- --- --- TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:185212517_185212518insA ENST00000421852.1 - 4 562_563 c.467_468insT c.(466-468)tttfs p.F156fs TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.446 12 1030 --- --- --- --- MUC20 200958 broad.mit.edu 37 3 195452664 195452664 + Frame_Shift_Del DEL C C - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr3:195452664delC ENST00000320736.6 + 3 803 c.677delC c.(676-678)acfs p.T226fs MUC20_ENST00000447234.2_Frame_Shift_Del_p.T397fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.T362fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.T397fs NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 397 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CCAGTCATCACCCCCTCATGG 0.587 16 69 --- --- --- --- PDE6B 5158 broad.mit.edu 37 4 661763 661765 + In_Frame_Del DEL AGG AGG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr4:661763_661765delAGG ENST00000255622.6 + 21 2514_2516 c.2471_2473delAGG c.(2470-2475)aag>a p.KE824del PDE6B_ENST00000429163.2_In_Frame_Del_p.KE545del|PDE6B_ENST00000496514.1_In_Frame_Del_p.KE824del NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 824 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTGGAGGAGAAGGAGGAGGAGGA 0.562 10 989 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 17 658 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_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 10 564 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 760 Gln-rich. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) cctgggagctctgctgctgctgc 0.512 9 308 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr4:88986559delA ENST00000237596.2 + 11 2218 c.2152delA c.(2152-2154)aafs p.K719fs PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 719 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACTAAAACTGAAAAAAAATAC 0.383 10 901 --- --- --- --- HERC5 51191 broad.mit.edu 37 4 89381265 89381266 + Frame_Shift_Ins INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr4:89381265_89381266insA ENST00000264350.3 + 3 562_563 c.409_410insA c.(409-411)aaafs p.K137fs HERC5_ENST00000508695.1_3'UTR NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 137 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) CATTTTACAAGAAAAAAAAATA 0.272 7 206 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128564917 128564917 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e 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 9 607 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129924994 129924995 + Frame_Shift_Ins INS - - T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr4:129924994_129924995insT ENST00000281142.5 - 6 830_831 c.327_328insA c.(325-330)aatggafs p.NG109fs SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.NG109fs|SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.NG86fs|SCLT1_ENST00000439369.2_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 109 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 AAGGCCTCCAATTTTTTTTCAA 0.381 9 638 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR 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 8 426 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000448662.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 650 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATGAggtggcggtggtggtggtg 0.522 12 527 --- --- --- --- BRD9 65980 broad.mit.edu 37 5 889776 889777 + Frame_Shift_Ins INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:889776_889777insA ENST00000323510.4 - 1 37_38 c.38_39insT c.(37-39)tctfs p.S13fs BRD9_ENST00000467963.1_Intron|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs Q9H8M2 BRD9_HUMAN bromodomain containing 9 0 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) ACAATTTAAGGAAAAAAAAATT 0.446 10 528 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13919383 13919383 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:13919383delT ENST00000265104.4 - 7 981 c.877delA c.(877-879)gafs p.R293fs NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 293 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTGGAGAGTCTTTTTTTCCAG 0.517 Kartagener syndrome 7 1877 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAACTGGCGTCCTCCTCCTCCT 0.527 7 939 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 10 1255 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388715 44388717 + In_Frame_Del DEL AGC AGC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:44388715_44388717delAGC ENST00000264664.4 - 1 182_184 c.68_70delGCT c.(67-72)ttt>t p.CF23del NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 23 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGCAACAAAAAGCAGCAGCAGCA 0.537 8 435 --- --- --- --- HCN1 348980 broad.mit.edu 37 5 45695973 45695978 + In_Frame_Del DEL CGCCGC CGCCGC - rs56063136 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:45695973_45695978delCGCCGC ENST00000303230.4 - 1 275_280 c.218_223delGCGGCG c.(217-225)gag>g p.GGE73del NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 73 Gly-rich. integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GCCGGCTCCTcgccgccgccgccgcc 0.762 45 99 --- --- --- --- AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - rs80118146 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:115202418_115202421delAAGA ENST00000316788.7 + 2 678_681 c.121_124delAAGA c.(121-126)gafs p.KR41fs NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 41 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 16 380 --- --- --- --- SRFBP1 153443 broad.mit.edu 37 5 121356129 121356130 + Frame_Shift_Ins INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:121356129_121356130insA ENST00000339397.4 + 6 771_772 c.699_700insA c.(697-702)acaaaafs p.TK233fs NM_152546.2 NP_689759.2 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TAAGTCAAACCAAAAAAAACAA 0.401 13 762 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 8 1807 --- --- --- --- PCDHB2 0 broad.mit.edu 37 5 140474590 140474590 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:140474590delA ENST00000194155.4 + 1 364 c.216delA c.(214-216)ggfs p.G72fs NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 72 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTCCAAAGGAAAAAAAATGC 0.522 9 555 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 8 1730 --- --- --- --- CPLX2 10814 broad.mit.edu 37 5 175306965 175306967 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr5:175306965_175306967delGAG ENST00000359546.4 + 5 965_967 c.322_324delGAG c.(322-324)del p.E114del CPLX2_ENST00000515094.1_In_Frame_Del_p.E114del|CPLX2_ENST00000393745.3_In_Frame_Del_p.E114del NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 114 mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTGCGGGGACGAGGAGGAGGAGG 0.645 9 180 --- --- --- --- DEK 7913 broad.mit.edu 37 6 18264079 18264081 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:18264079_18264081delTCC ENST00000397239.3 - 2 585_587 c.138_140delGGA c.(136-141)gaa>ga p.EE46del DEK_ENST00000244776.7_In_Frame_Del_p.EE46del NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 46 Asp/Glu-rich (highly acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCACCTTTTtcctcctcctcct 0.532 T NUP214 AML 8 508 --- --- --- --- HLA-A 3105 broad.mit.edu 37 6 29911900 29911900 + Splice_Site DEL C C - rs75368153 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:29911900delC ENST00000396634.1 + 6 962 c.619_splice c.e6-1 p.D207_splice HLA-A_ENST00000376802.2_Splice_Site_p.D207_splice|HLA-A_ENST00000376809.5_Splice_Site_p.D207_splice|HLA-A_ENST00000376806.5_Splice_Site_p.D207_splice P30443 1A01_HUMAN major histocompatibility complex, class I, A 207 Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCCCGTCAGACCCCCCCAAGA 0.577 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 7 1516 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cca>cc p.PP720del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCTCGGAATggaggaggaggag 0.670 14 465 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 17 34 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:36867371delC ENST00000480824.2 + 3 445 c.151delC c.(151-153)ccfs p.P53fs C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs|C6orf89_ENST00000359359.2_5'UTR Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 53 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTCAGAGACCCCCCCCGCA 0.428 7 532 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 15 806 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46658609 46658609 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:46658609delA ENST00000544460.1 + 1 2998 c.2744delA c.(2743-2745)cafs p.Q915fs TDRD6_ENST00000316081.6_Frame_Shift_Del_p.Q915fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 915 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AATGCATGGCAAAAAAATCTA 0.338 7 854 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 13 526 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 11 1539 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129959602 129959603 + Frame_Shift_Ins INS - - T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:129959602_129959603insT ENST00000368149.2 - 3 576_577 c.488_489insA c.(487-489)aaafs p.K163fs NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 163 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GGTACTGTTTGTTTTTTTTCCT 0.421 10 1518 --- --- --- --- UTRN 7402 broad.mit.edu 37 6 144769847 144769849 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:144769847_144769849delCCT ENST00000367545.3 + 16 2014_2016 c.2014_2016delCCT c.(2014-2016)del p.P677del NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 677 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding p.P672H(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCAGGAACTGCCTCCTCCTCCTC 0.409 10 488 --- --- --- --- IGF2R 3482 broad.mit.edu 37 6 160485487 160485488 + Frame_Shift_Ins INS - - G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr6:160485487_160485488insG ENST00000356956.1 + 28 4089_4090 c.3941_3942insG c.(3940-3942)aggfs p.R1314fs NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1314 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ATGAACTTCACGGGGGGGGACA 0.505 17 1237 --- --- --- --- PMS2CL 0 broad.mit.edu 37 7 6771674 6771675 + RNA INS - - T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:6771674_6771675insT ENST00000486256.1 + 0 619 NR_002217.1 ttttttttttctttttttttgg 0.421 8 315 --- --- --- --- PHF14 9678 broad.mit.edu 37 7 11075380 11075381 + Frame_Shift_Del DEL AG AG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:11075380_11075381delAG ENST00000403050.3 + 8 2021_2022 c.1569_1570delAG c.(1567-1572)caagfs p.QE523fs PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 523 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TGTCTTTGCAAGAGAGAGAGAA 0.376 11 1376 --- --- --- --- SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 18 28 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 72 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Ctgggggtggcgatggtggtggt 0.650 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 424 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:33312723delT ENST00000242067.6 + 8 1323 c.802delT c.(802-804)ttfs p.F269fs BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 269 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGAGAGAAACTTTTTTTGCCT 0.393 Bardet-Biedl syndrome 8 1200 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 11 755 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 7 101 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72040750 72040751 + RNA INS - - A rs72347331 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:72040750_72040751insA ENST00000438125.1 - 0 1399 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AACATCCCTAGAAAAAAAAAAT 0.332 14 208 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72286070 72286071 + RNA INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:72286070_72286071insA ENST00000438125.1 - 0 234 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CCTAATAGGACAAAAAAAAACT 0.381 10 291 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:72664015_72664016insG ENST00000425256.1 - 0 884_885 NR_002164.1 ATACCACCCCCGGGGCATGCCA 0.505 9 86 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 10 431 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103629803 103629804 + Translation_Start_Site INS - - GCCGCC TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:103629803_103629804insGCCGCC ENST00000424685.2 - 0 159_160 RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000428762.1_Start_Codon_Ins P78509 RELN_HUMAN reelin axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGCGCTCCATgccgccgccgc 0.723 12 57 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332839 123332841 + In_Frame_Del DEL AGG AGG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:123332839_123332841delAGG ENST00000223023.4 - 9 1239_1241 c.907_909delCCT c.(907-909)del p.P303del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 303 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity p.P303A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTCCCCTagcaggaggaggagga 0.616 7 652 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332873 123332875 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:123332873_123332875delGGA ENST00000223023.4 - 9 1205_1207 c.873_875delTCC c.(871-876)ccc>cc p.PP293del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 293 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 gtgtggagggggaggaggaggag 0.567 16 654 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099832 142099833 + RNA DEL CA CA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:142099832_142099833delCA ENST00000390359.3 - 0 88 accactctctcacacacacaca 0.455 13 480 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 22 70 --- --- --- --- MTMR9 66036 broad.mit.edu 37 8 11162508 11162509 + Frame_Shift_Ins INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr8:11162508_11162509insA ENST00000221086.3 + 4 1049_1050 c.576_577insA c.(574-579)caaaaafs p.QK192fs MTMR9_ENST00000526292.1_Frame_Shift_Ins_p.QK107fs NM_015458.3 NP_056273.2 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 192 Myotubularin phosphatase. cytoplasm phosphatase activity|protein binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 16 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) GCTATTACCACAAAAAAAATGG 0.455 8 347 --- --- --- --- TEX15 56154 broad.mit.edu 37 8 30695491 30695491 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr8:30695491delT ENST00000256246.2 - 3 7234 c.7160delA c.(7159-7161)agfs p.K2387fs NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2387 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CATTTCAACCTTTTTTGGCGT 0.388 10 1276 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61693942 61693943 + In_Frame_Ins INS - - AAAGCA TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr8:61693942_61693943insAAAGCA ENST00000423902.2 + 3 2528_2529 c.2049_2050insAAAGCA c.(2047-2052)aaaagc>aaAAAGCAaagc p.683_684KS>KKQS CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_In_Frame_Ins_p.683_684KS>KKQS NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 683 Lys-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAAAGGAAAAGAAAGCAAAAAC 0.450 7 41 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733713 81733713 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr8:81733713delT ENST00000327835.3 - 2 348 c.117delA c.(115-117)aafs p.K39fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 39 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TCCGGCTGGCTTTTTTGGTGT 0.428 7 2264 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498121 89498122 + RNA INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr8:89498121_89498122insA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA gaacagctatgaaaaaaaaaac 0.386 8 102 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 14 351 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 254 CSDE1-binding.|RRM 3. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CATTGAGCTCCTTTCCGTTCAT 0.371 10 428 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - - T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr8:103289348_103289349insT ENST00000520539.1 - 45 6966_6967 c.6360_6361insA c.(6358-6363)aaaaggfs p.R2121fs UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs 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 8 750 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 9 399 --- --- --- --- PTENP1 0 broad.mit.edu 37 9 33675364 33675365 + RNA INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr9:33675364_33675365insA ENST00000532280.1 - 0 2132_2133 NR_023917.1 CTATTGCCATTAAAAAAAAAGG 0.322 8 79 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906545 35906547 + In_Frame_Del DEL CCA CCA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr9:35906545_35906547delCCA ENST00000354323.2 + 1 357_359 c.261_263delCCA c.(259-264)ctc>ct p.LH87del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 87 His-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 ATGTGGGCCTccaccaccaccac 0.700 7 318 --- --- --- --- RP11-202I11.2 0 broad.mit.edu 37 9 88370966 88370966 + RNA DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr9:88370966delT ENST00000447148.1 - 0 419 AAACAAGtaatttttttttta 0.274 8 117 --- --- --- --- NFIL3 4783 broad.mit.edu 37 9 94172779 94172779 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr9:94172779delT ENST00000297689.3 - 2 632 c.238delA c.(238-240)ggfs p.R81fs NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 81 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 TTTTTCCGCCTTTTTTCCCAA 0.423 8 1812 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 7 673 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 14 1064 --- --- --- --- ANKRD19P 0 broad.mit.edu 37 9 95599088 95599089 + RNA DEL CA CA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr9:95599088_95599089delCA ENST00000473204.1 + 0 1169_1170 TTCACGGGCGCACACACACACA 0.421 8 381 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 18 487 --- --- --- --- TNC 3371 broad.mit.edu 37 9 117797539 117797539 + Frame_Shift_Del DEL G G - rs148674204 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr9:117797539delG ENST00000350763.4 - 22 6142 c.5731delC c.(5731-5733)ggfs p.R1911fs TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs|TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1911 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ACTGATGCCCGGGGGGGTCGC 0.478 7 722 --- --- --- --- STAM 8027 broad.mit.edu 37 10 17756616 17756618 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:17756616_17756618delCTG ENST00000377524.3 + 14 1675_1677 c.1460_1462delCTG c.(1459-1464)act>a p.TA487del STAM_ENST00000540523.1_In_Frame_Del_p.TA376del NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 487 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 CCTGCCGCTACTGCTGCTGCTGC 0.493 7 736 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 8 448 --- --- --- --- MYO3A 53904 broad.mit.edu 37 10 26462759 26462760 + Frame_Shift_Ins INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:26462759_26462760insA ENST00000265944.5 + 30 3732_3733 c.3566_3567insA c.(3565-3567)caafs p.Q1189fs MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1189 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.M1192fs*1(2) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TATCAGACTCCAAAAAAAATGA 0.401 7 413 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 7 19 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61831289 61831290 + Frame_Shift_Ins INS - - T rs28932171 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:61831289_61831290insT ENST00000280772.1 - 37 9540_9541 c.9349_9350insA c.(9349-9351)catfs p.H3117fs ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3117 I -> V (in dbSNP:rs28932171). establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTGACTTATGATTTTTTTTACA 0.401 8 1394 --- --- --- --- MBL1P 0 broad.mit.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:81680656delA ENST00000480805.1 + 0 723 NR_002724.2 GCTTTTGGGGAAAAAAAAAAG 0.542 7 50 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101558979 101558979 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:101558979delA ENST00000370449.4 + 8 996 c.883delA c.(883-885)aafs p.K298fs NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 298 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGTTGAAAAGAAAAAAAAGAA 0.438 9 1242 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 20 807 --- --- --- --- C10orf82 143379 broad.mit.edu 37 10 118424338 118424338 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:118424338delT ENST00000369210.3 - 4 449 c.395delA c.(394-396)acfs p.N132fs C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs NM_144661.2 NP_653262.1 Q8WW14 CJ082_HUMAN chromosome 10 open reading frame 82 132 endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all cancers(201;0.0143) CTTGTAGCAGTTTTTGGCCAT 0.567 7 948 --- --- --- --- IKZF5 64376 broad.mit.edu 37 10 124758126 124758127 + Frame_Shift_Ins INS - - T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr10:124758126_124758127insT ENST00000368886.5 - 3 335_336 c.15_16insA c.(13-18)aacagafs p.NR5fs IKZF5_ENST00000479103.1_5'UTR NM_001271840.1 NP_001258769.1 Q9H5V7 IKZF5_HUMAN IKAROS family zinc finger 5 (Pegasus) 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|lung(3)|prostate(1) 6 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) AAAGGCTCTGGTTTTTTTTCAC 0.371 7 504 --- --- --- --- AP2A2 161 broad.mit.edu 37 11 970195 970195 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:970195delA ENST00000448903.2 + 3 304 c.163delA c.(163-165)aafs p.K57fs AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 57 Lipid-binding. axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity p.K57fs*24(1) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TGGCTATAGTAAAAAAAAGTA 0.488 7 808 --- --- --- --- TRIM21 6737 broad.mit.edu 37 11 4409705 4409705 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:4409705delT ENST00000254436.7 - 4 672 c.560delA c.(559-561)acfs p.N187fs TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 187 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) AACCAGGAAGTTTTTTTGCTG 0.483 7 2036 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 17 795 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e 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 7 874 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891253 6891255 + In_Frame_Del DEL TTC TTC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:6891253_6891255delTTC ENST00000307322.4 + 1 330_332 c.268_270delTTC c.(268-270)del p.F94del NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAGATGTATTTCTTCTTCTTCT 0.517 7 934 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 7 348 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000534229.1_3'UTR NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 16 705 --- --- --- --- CAPRIN1 4076 broad.mit.edu 37 11 34118047 34118047 + Frame_Shift_Del DEL C C - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:34118047delC ENST00000341394.4 + 16 1916 c.1727delC c.(1726-1728)tcfs p.S576fs CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000532820.1_Frame_Shift_Del_p.S576fs|CAPRIN1_ENST00000389645.3_Frame_Shift_Del_p.S576fs|CAPRIN1_ENST00000529307.1_Frame_Shift_Del_p.S495fs|CAPRIN1_ENST00000530820.1_Frame_Shift_Del_p.S576fs NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 576 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) TACCATGGTTCCCCAGACCAG 0.428 34 497 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183765 61183767 + In_Frame_Del DEL AGG AGG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:61183765_61183767delAGG ENST00000340437.4 - 6 984_986 c.904_906delCCT c.(904-906)del p.P302del CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del|CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 259 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 AGTGGATACCAGGAGGAGGAGGA 0.611 8 429 --- --- --- --- RARRES3 5920 broad.mit.edu 37 11 63313708 63313709 + Frame_Shift_Ins INS - - A rs74932327 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:63313708_63313709insA ENST00000255688.3 + 4 523_524 c.475_476insA c.(475-477)aaafs p.K159fs RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Frame_Shift_Ins_p.K159fs NM_004585.3 NP_004576.2 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 159 lipid catabolic process|negative regulation of cell proliferation hydrolase activity kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 TAGGAGATACCAAAAAAAAGCG 0.540 12 1206 --- --- --- --- MTL5 9633 broad.mit.edu 37 11 68480836 68480836 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:68480836delT ENST00000255087.5 - 8 1243 c.1060delA c.(1060-1062)ttfs p.I354fs NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 354 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) CCCTTCCCAATTTTTGGCTGG 0.473 8 2126 --- --- --- --- CASP5 838 broad.mit.edu 37 11 104874010 104874011 + Frame_Shift_Ins INS - - T TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr11:104874010_104874011insT ENST00000393141.2 - 4 603_604 c.572_573insA c.(571-573)acafs p.T191fs CASP5_ENST00000526056.1_Frame_Shift_Ins_p.T191fs|CASP5_ENST00000260315.3_Frame_Shift_Ins_p.T178fs|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.T120fs|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000418434.1_Frame_Shift_Ins_p.T36fs|CASP5_ENST00000531367.1_Frame_Shift_Ins_p.T36fs NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 178 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) CCTCATCATGATTTTTTTTACA 0.401 7 838 --- --- --- --- FOXJ2 55810 broad.mit.edu 37 12 8200558 8200560 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr12:8200558_8200560delCAG ENST00000162391.3 + 7 2043_2045 c.898_900delCAG c.(898-900)del p.Q306del FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 306 Poly-Gln. embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) gccacctcaacagcagcagcagc 0.640 9 324 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGTTCTCCTTTCTCTCTCTCTC 0.446 25 1138 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55614894 55614894 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr12:55614894delT ENST00000326258.1 + 1 86 c.86delT c.(85-87)atfs p.I29fs NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TCCCTCTTTATTTTTTTCCTG 0.378 8 1777 --- --- --- --- TIMELESS 8914 broad.mit.edu 37 12 56818901 56818903 + In_Frame_Del DEL CTT CTT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr12:56818901_56818903delCTT ENST00000229201.4 - 14 1763_1765 c.1609_1611delAAG c.(1609-1611)del p.K537del TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_In_Frame_Del_p.K538del NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 538 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GGTCTAGGACcttcttcttcttc 0.488 9 491 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 12 1453 --- --- --- --- SYCP3 50511 broad.mit.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr12:102122901delT ENST00000392927.3 - 8 774 c.643delA c.(643-645)ttfs p.I215fs SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 215 Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TCCATCATAATTTTTTTTTGC 0.259 10 267 --- --- --- --- HCFC2 29915 broad.mit.edu 37 12 104476535 104476535 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr12:104476535delA ENST00000229330.4 + 7 1023 c.919delA c.(919-921)aafs p.K308fs NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 308 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity p.N309fs*32(1) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TCAGGAAGATAAAAAAAATTC 0.373 11 723 --- --- --- --- CUX2 23316 broad.mit.edu 37 12 111758235 111758237 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr12:111758235_111758237delTCC ENST00000261726.6 + 17 2576_2578 c.2422_2424delTCC c.(2422-2424)del p.S813del NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 813 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCCTCGCTGTCCTCCTCCTCCT 0.749 7 373 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 10 364 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - rs148625973 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr13:45148691_45148693delTGT ENST00000458659.2 - 1 2008_2010 c.1518_1520delACA c.(1516-1521)cag>ca p.QQ508del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 508 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGgttgttgctgttgttgttgtt 0.502 10 807 --- --- --- --- SLAIN1 122060 broad.mit.edu 37 13 78320722 78320722 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr13:78320722delA ENST00000466548.1 + 5 950 c.924delA c.(922-924)ggfs p.G308fs SLAIN1_ENST00000351546.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000488699.1_Frame_Shift_Del_p.G166fs|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000418532.1_Frame_Shift_Del_p.G89fs|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000358679.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000267219.8_Frame_Shift_Del_p.G89fs NM_001242868.1 NP_001229797.1 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 308 breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) TGAGTTCAGGAAAAAAAGGGA 0.388 7 616 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88330019 88330021 + In_Frame_Del DEL GCA GCA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr13:88330019_88330021delGCA ENST00000325089.6 + 2 2595_2597 c.2376_2378delGCA c.(2374-2379)ctg>ct p.LQ792del SLITRK5_ENST00000400028.3_In_Frame_Del_p.LQ551del NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 792 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACCACCACCTgcagcagcagcag 0.655 7 371 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20844273 20844273 + Frame_Shift_Del DEL C C - rs147792517 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr14:20844273delC ENST00000262715.5 - 42 6279 c.6239delG c.(6238-6240)gcfs p.G2080fs TEP1_ENST00000556935.1_Frame_Shift_Del_p.G1972fs|TEP1_ENST00000545983.1_Frame_Shift_Del_p.G418fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2080 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CCGATCCCGGCCCCCGGTGGC 0.582 8 1203 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20846229 20846229 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr14:20846229delA ENST00000262715.5 - 39 5715 c.5675delT c.(5674-5676)tcfs p.F1892fs TEP1_ENST00000556935.1_Frame_Shift_Del_p.F1784fs|TEP1_ENST00000545983.1_Frame_Shift_Del_p.F230fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1892 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CGCATGCAGGAAAAGCGCAGC 0.622 7 905 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21961060 21961062 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr14:21961060_21961062delGCT ENST00000405508.1 + 8 1561_1563 c.1285_1287delGCT c.(1285-1287)del p.A434del TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del O94842 TOX4_HUMAN TOX high mobility group box family member 4 434 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCAGCAGCAGCTGCTGCTGCTG 0.581 9 1325 --- --- --- --- RP11-159L20.2 0 broad.mit.edu 37 14 31291081 31291082 + RNA INS - - A rs111525555 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr14:31291081_31291082insA ENST00000554665.1 - 0 208 AAATTAAAAAGAAAAAAAAAAC 0.312 8 96 --- --- --- --- KCNH5 27133 broad.mit.edu 37 14 63174303 63174303 + Frame_Shift_Del DEL G G - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr14:63174303delG ENST00000322893.7 - 11 3158 c.2890delC c.(2890-2892)agfs p.Q964fs KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 964 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CATGGTATCTGGGGGGGTACT 0.393 7 1244 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 16 914 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 8 262 --- --- --- --- INF2 64423 broad.mit.edu 37 14 105174270 105174271 + Frame_Shift_Ins INS - - G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr14:105174270_105174271insG ENST00000392634.4 + 8 1778_1779 c.1666_1667insG c.(1666-1668)ggtfs p.G556fs INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 556 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CAGCCATCGGCGGGTGAACCCA 0.663 7 367 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 7 1650 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 12 360 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 10 94 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 8 947 --- --- --- --- ADAL 161823 broad.mit.edu 37 15 43641114 43641115 + Frame_Shift_Ins INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr15:43641114_43641115insA ENST00000422466.2 + 11 1217_1218 c.643_644insA c.(643-645)aaafs p.K215fs ADAL_ENST00000562188.1_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000389651.4_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.K188fs Q6DHV7 ADAL_HUMAN adenosine deaminase-like 215 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) GATTCCAAACCAAAAAAAAGAA 0.455 7 454 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65943128 65943130 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr15:65943128_65943130delGAG ENST00000261892.6 + 7 2928_2930 c.2641_2643delGAG c.(2641-2643)del p.E890del SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000449142.2_3'UTR NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 890 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 gcaggaggaagaggaggaggagg 0.562 7 252 --- --- --- --- IL16 3603 broad.mit.edu 37 15 81592162 81592164 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr15:81592162_81592164delCCT ENST00000394660.2 + 14 2855_2857 c.2495_2497delCCT c.(2494-2499)gcc>g p.AS832del IL16_ENST00000394652.2_In_Frame_Del_p.AS131del|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000302987.4_In_Frame_Del_p.AS832del NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 832 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity p.S792delS(1)|p.S838delS(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CACATCCGGGcctcctcctcctc 0.586 7 332 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 15 90 --- --- --- --- IQGAP1 8826 broad.mit.edu 37 15 91019925 91019925 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr15:91019925delA ENST00000268182.5 + 24 2939 c.2815delA c.(2815-2817)aafs p.K940fs IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 940 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAAACTTACCAAAAAAAATAA 0.363 15 1027 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974509 93974510 + RNA DEL TC TC - rs57286078 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr15:93974509_93974510delTC ENST00000543286.1 + 0 545 TTGGCTGGGTTCtttttttttt 0.431 8 214 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 8 656 --- --- --- --- C16orf72 29035 broad.mit.edu 37 16 9210640 9210640 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr16:9210640delT ENST00000327827.7 + 4 1096 c.699delT c.(697-699)gafs p.D233fs NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 233 endometrium(4)|large_intestine(2)|lung(2) 8 ATGATGTCGATTTGAACACTT 0.478 86 769 --- --- --- --- C16orf62 57020 broad.mit.edu 37 16 19580800 19580802 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr16:19580800_19580802delTCC ENST00000438132.3 + 3 487_489 c.439_441delTCC c.(439-441)del p.S153del C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 64 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTCTTCCACGTCCTCCTCCTCCT 0.562 8 338 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e 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 13 1427 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994531 29994533 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr16:29994531_29994533delGAG ENST00000308893.4 + 12 2181_2183 c.1138_1140delGAG c.(1138-1140)del p.E392del TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 392 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAACgaggaagaggaggaggagg 0.611 12 491 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e 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 7 1979 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 13 655 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175656 51175658 + In_Frame_Del DEL GCT GCT - rs13336129 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr16:51175656_51175658delGCT ENST00000440970.1 - 2 615_617 c.184_186delAGC c.(184-186)del p.S62del SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 159 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S159G(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) cgccgccgccgctgctgctgctg 0.631 7 322 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 10 329 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913786 67913788 + In_Frame_Del DEL AGC AGC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr16:67913786_67913788delAGC ENST00000358933.5 + 16 2094_2096 c.1855_1857delAGC c.(1855-1857)del p.S629del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 629 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) cagcagcggtagcagcagcagca 0.616 12 507 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATCTAATcaacagcagcagcagc 0.473 8 465 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 11 554 --- --- --- --- RP11-314A20.2 0 broad.mit.edu 37 17 4608074 4608075 + RNA DEL GT GT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:4608074_4608075delGT ENST00000497885.1 + 0 141 NR_103482.1 AATCAGTAACGTGTGTGTGTGT 0.515 7 92 --- --- --- --- CHRNB1 1140 broad.mit.edu 37 17 7358638 7358638 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:7358638delA ENST00000306071.2 + 9 1147 c.1080delA c.(1078-1080)ctfs p.L360fs CHRNB1_ENST00000576360.1_Frame_Shift_Del_p.L239fs|CHRNB1_ENST00000536404.2_Frame_Shift_Del_p.L288fs NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 360 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) ACCTGCGTCTAAAAAGGCCCA 0.527 7 805 --- --- --- --- CNTROB 116840 broad.mit.edu 37 17 7843518 7843519 + Frame_Shift_Del DEL GA GA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:7843518_7843519delGA ENST00000380262.3 + 9 2194_2195 c.1269_1270delGA c.(1267-1272)cggafs p.RR423fs CNTROB_ENST00000563694.1_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000565740.1_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000380255.3_Frame_Shift_Del_p.RR423fs NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 423 Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) ATACAGCTCGGAGAGAGAGAGA 0.579 11 757 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8397095 8397097 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:8397095_8397097delCCT ENST00000360416.3 - 32 4301_4303 c.4163_4165delAGG c.(4162-4167)gcc>g p.EA1388del MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del|MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1357 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTCTTCCTGGCCTCCTCCTCCTC 0.596 7 370 --- --- --- --- SMCR7 0 broad.mit.edu 37 17 18167778 18167780 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:18167778_18167780delGCT ENST00000323019.4 + 4 1276_1278 c.1065_1067delGCT c.(1063-1068)cgg>cg p.RL355del SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del|SMCR7_ENST00000395704.4_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 355 integral to membrane protein binding p.L356R(1) breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CTCGCCGGCGGCTGCTGCTGCTG 0.685 8 519 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.591 10 657 --- --- --- --- AC005562.1 0 broad.mit.edu 37 17 28960996 28960997 + RNA INS - - TC TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:28960996_28960997insTC ENST00000417404.1 + 0 1269 LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA tttttctttttttttttttttt 0.302 33 107 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 14 536 --- --- --- --- RP11-798G7.5 0 broad.mit.edu 37 17 43591984 43591985 + RNA INS - - G TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:43591984_43591985insG ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTGGGTCATGCGGAGCGAGTTT 0.411 29 359 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|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 26 234 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:55028016delT ENST00000240316.4 - 2 621 c.587delA c.(586-588)agfs p.K196fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 17 918 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 8 116 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 14 1303 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141015 66141016 + RNA INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:66141015_66141016insA ENST00000590019.1 - 0 70 CCAAGATTTCTACAAAAAAAAA 0.322 10 268 --- --- --- --- KIAA0195 9772 broad.mit.edu 37 17 73482037 73482039 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:73482037_73482039delTGC ENST00000314256.7 + 4 624_626 c.230_232delTGC c.(229-234)gtg>g p.VL77del KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_In_Frame_Del_p.VL87del NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 77 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTACTGGCCGTGCTGCTGCTGCT 0.675 7 214 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 7 440 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8793004 8793004 + Frame_Shift_Del DEL C C - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr18:8793004delC ENST00000359865.3 + 8 2038 c.1896delC c.(1894-1896)ggfs p.G632fs SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 AGCTCAGGGGCCCCCCCGTTT 0.552 7 1098 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 8 254 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 16 1201 --- --- --- --- LMAN1 3998 broad.mit.edu 37 18 57013285 57013285 + Splice_Site DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr18:57013285delT ENST00000251047.5 - 8 1540 c.e8-2 LMAN1_ENST00000587940.1_Splice_Site NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 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) TGGTGTGGGCTTTTTTTTGGA 0.294 12 793 --- --- --- --- RTTN 25914 broad.mit.edu 37 18 67697249 67697249 + Splice_Site DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr18:67697249delT ENST00000255674.6 - 42 6030 c.5745_splice c.e42+1 p.K1915_splice RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1915 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GAATGTTACCTTTTTTTTCAA 0.398 7 762 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 15 281 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2333196 2333197 + RNA DEL CT CT - rs34753713 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:2333196_2333197delCT ENST00000452401.2 + 0 146 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity 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)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGACTAGACTCTGCTGGGAG 0.713 4 6 --- --- --- --- UBXN6 80700 broad.mit.edu 37 19 4454085 4454085 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:4454085delT ENST00000301281.6 - 2 213 c.89delA c.(88-90)agfs p.K30fs UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 30 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 TTTGTGGGCCTTTTCCCTGGG 0.667 9 1292 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 8 336 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 11 1122 --- --- --- --- ZNF44 51710 broad.mit.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:12384448delA ENST00000356109.5 - 5 884 c.766delT c.(766-768)ggfs p.W256fs ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AAACTGGGCCAAAAAAAGGCT 0.398 8 766 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 20 1486 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 9 828 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:51961617_51961619delGCA ENST00000321424.3 - 1 89_91 c.23_25delTGC c.(22-27)ccc>c p.LP8del SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.596 14 563 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54649671 54649671 + Frame_Shift_Del DEL T T - rs36665 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:54649671delT ENST00000406403.1 + 8 2332 c.729delT c.(727-729)ccfs p.P244fs CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs|CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 244 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCACCTCCCCTCCCAGCCACA 0.632 7 613 --- --- --- --- KIR2DL4 0 broad.mit.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - rs148484482 TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr19:55324675delA ENST00000396284.2 + 6 796 c.796delA c.(796-798)aafs p.K268fs KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Intron killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 p.M271fs*>3(1) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTGGTGCTCCAAAAAAAAAGT 0.532 7 204 --- --- --- --- NCOR1P1 0 broad.mit.edu 37 20 26084384 26084384 + RNA DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr20:26084384delT ENST00000478176.1 - 0 150 NR_003678.1 AAAAAGTCAGTTTTAAACCAC 0.328 43 121 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e 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 7 234 --- --- --- --- EPPIN 57119 broad.mit.edu 37 20 44174297 44174297 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr20:44174297delT ENST00000354280.4 - 2 270 c.204delA c.(202-204)aafs p.K68fs EPPIN_ENST00000336443.3_Frame_Shift_Del_p.K52fs|EPPIN_ENST00000409554.1_Frame_Shift_Del_p.K68fs|EPPIN_ENST00000555685.1_Frame_Shift_Del_p.K68fs|EPPIN-WFDC6_ENST00000504988.1_Frame_Shift_Del_p.K68fs NM_020398.3 NP_065131.1 epididymal peptidase inhibitor p.C53fs*28(2) GATCTAAACATTTTTTTCCGC 0.453 7 1649 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 15 619 --- --- --- --- TRAPPC10 7109 broad.mit.edu 37 21 45472274 45472275 + Frame_Shift_Ins INS - - A rs149217788 byFrequency TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr21:45472274_45472275insA ENST00000291574.4 + 4 574_575 c.399_400insA c.(397-402)aaaaaafs p.KK133fs TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 133 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity p.K133N(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 ATGATGCCAAGAAAAAAAACAA 0.356 11 793 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 18 608 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918817 20918819 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr22:20918817_20918819delCAG ENST00000263205.7 + 6 601_603 c.532_534delCAG c.(532-534)del p.Q188del MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000542773.1_5'UTR NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 188 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) ggcggcgctacagcagcagcagc 0.626 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 190 --- --- --- --- ZNRF3 84133 broad.mit.edu 37 22 29445819 29445821 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr22:29445819_29445821delCAG ENST00000544604.2 + 8 1825_1827 c.1650_1652delCAG c.(1648-1653)gac>ga p.DS550del ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 550 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CAGgcagcgacagcagcagcagc 0.660 11 349 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38119882 38119884 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr22:38119882_38119884delCCT ENST00000406386.3 + 7 1574_1576 c.1319_1321delCCT c.(1318-1323)gcc>g p.AS440del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 440 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 19 758 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr22:38471034_38471036delGGA ENST00000404072.3 + 13 1490_1492 c.1143_1145delGGA c.(1141-1146)ggg>gg p.GE381del PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 381 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TCACAGATGGggaggaggaggag 0.635 7 224 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 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 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 ctcttctccttcctcctcctcct 0.562 32 888 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 12 521 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chrX:37312611delC ENST00000542554.1 + 5 666 c.394delC c.(394-396)ccfs p.P135fs PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 135 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TATCACCCCACCCCCCCCACC 0.488 13 913 --- --- --- --- TFE3 7030 broad.mit.edu 37 X 48887952 48887952 + Frame_Shift_Del DEL C C - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chrX:48887952delC ENST00000315869.7 - 10 1704 c.1445delG c.(1444-1446)gafs p.G482fs TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 482 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 CTGGGCAGGTCCCCCCCCTAC 0.647 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 8 896 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 14 870 --- --- --- --- NAP1L3 4675 broad.mit.edu 37 X 92928153 92928155 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chrX:92928153_92928155delTGC ENST00000373079.3 - 1 412_414 c.149_151delGCA c.(148-153)act>a p.ST50del NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 50 Ser-rich. nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 ctgccactagtgctgctgctgct 0.586 9 239 --- --- --- --- PCDH19 57526 broad.mit.edu 37 X 99662505 99662505 + Frame_Shift_Del DEL G G - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chrX:99662505delG ENST00000373034.4 - 1 2766 c.1091delC c.(1090-1092)cgfs p.P364fs PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 364 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P364fs*4(1) breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CACGTAGCCCGGGGGGGCGCT 0.607 7 546 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 9 843 --- --- --- --- AMOT 154796 broad.mit.edu 37 X 112058783 112058785 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chrX:112058783_112058785delGCT ENST00000371959.3 - 2 1192_1194 c.1193_1195delAGC c.(1192-1197)cca>c p.QP398del AMOT_ENST00000371958.1_In_Frame_Del_p.QP166del|AMOT_ENST00000524145.1_In_Frame_Del_p.QP398del|AMOT_ENST00000371962.1_In_Frame_Del_p.QP166del|AMOT_ENST00000304758.1_5'UTR NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 398 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 tgctgctgtggctgctgctgctg 0.562 11 444 --- --- --- --- SLC6A14 11254 broad.mit.edu 37 X 115584256 115584256 + Frame_Shift_Del DEL T T - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chrX:115584256delT ENST00000371900.4 + 9 1322 c.1234delT c.(1234-1236)ttfs p.F414fs NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 414 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) GTCCATATTATTTTTTTTCAT 0.363 8 530 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-HZ-A49G-01A-11D-A26I-08 TCGA-HZ-A49G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69d58f0-e51c-470b-bcb3-743fb4cede11 6b9bda12-72ab-4d91-a3e5-df702e7cf48e g.chrX:149639633_149639635delGCA ENST00000370401.2 + 4 2098_2100 c.1788_1790delGCA c.(1786-1791)ctg>ct p.LQ596del MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 596 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCTTgcagctgcagcagcagcag 0.611 13 797 --- --- --- ---