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 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 6 80 0 0 0.335167 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q 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 5 20 0 0 0.184627 0 0 NPIPB11 728888 broad.mit.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr16:29415043G>A ENST00000524087.1 - 2 155 c.81C>T c.(79-81)caC>caT p.H27H SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 p.H27H(24) CTGACTTTACGTGCTGCTGCA 0.577000 5 69 0 0 0.248553 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713407 142713407 + RNA SNP C C T rs142431664 by1000genomes TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:142713407C>T ENST00000369381.2 - 0 1198 CAGTAAGAAACTCATTCTTAT 0.318000 14 168 0 0 0.189662 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803612 142803612 + RNA SNP G G T TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:142803612G>T ENST00000423385.1 - 0 1353 AAATATAGATGGAAGAaacta 0.303000 17 271 1.10513e-12 1.20746e-12 0.249174 1 0 TRBV5-4 0 broad.mit.edu 37 7 142168890 142168890 + RNA SNP C C T rs143671051 by1000genomes TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr7:142168890C>T ENST00000454561.2 - 0 155 GGGCTTGGTCCTCCTGGGGAA 0.592000 11 114 0 0 0.189662 0 0 TBP 6908 broad.mit.edu 37 6 170871076 170871076 + Silent SNP G G A TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr6:170871076G>A ENST00000392092.2 + 3 531 c.252G>A c.(250-252)caG>caA p.Q84Q TBP_ENST00000230354.6_Silent_p.Q84Q|TBP_ENST00000540980.1_Silent_p.Q64Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 84 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q84Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.602000 11 267 0 0 0.160694 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 6 89 0 0 0.278610 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 16 403 0 0 0.153744 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 6 116 0 0 0.278610 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 5 115 0 0 0.248553 0 0 TNXB 7148 broad.mit.edu 37 6 32013122 32013122 + Translation_Start_Site SNP G G T TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr6:32013122G>T ENST00000451343.1 - 0 783 TNXB_ENST00000375244.3_Intron|TNXB_ENST00000375247.2_Intron NM_032470.3 NP_115859.2 P22105 TENX_HUMAN tenascin XB actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAGAAGCCCAGGGGAGAATCT 0.617000 6 22 2.17888e-05 2.25533e-05 0.335167 1 0 CCDC88B 283234 broad.mit.edu 37 11 64124622 64124622 + Missense_Mutation SNP G G A rs61886888 by1000genomes TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr11:64124622G>A ENST00000359902.2 + 14 1951 c.1801G>A c.(1801-1803)Gga>Aga p.G601R CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_3'UTR A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1424 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGTGTCAGCGGAGGCCCCAG 0.667000 11 207 0 0 0.069234 0 0 MEGF6 1953 broad.mit.edu 37 1 3413612 3413612 + Missense_Mutation SNP G G C TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:3413612G>C ENST00000356575.4 - 28 3779 c.3553C>G c.(3553-3555)Cac>Gac p.H1185D MEGF6_ENST00000294599.4_Intron NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 1185 extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GTGGCAGGGTGGCAGGCCGGG 0.692000 3 26 0 0 0.115264 0 0 RP11-14N7.2 0 broad.mit.edu 37 1 148933289 148933289 + RNA SNP A A G rs9729175 by1000genomes TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:148933289A>G ENST00000539543.1 + 0 176 NR_027355.1 TGCTGCCCGCAGGATATTGTG 0.562000 14 91 0 0 0.132662 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 11 132 0 0 0.175082 0 0 KAT6B 23522 broad.mit.edu 37 10 76789141 76789141 + Missense_Mutation SNP G G C TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr10:76789141G>C ENST00000287239.4 + 18 5048 c.4559G>C c.(4558-4560)aGc>aCc p.S1520T KAT6B_ENST00000372725.1_Missense_Mutation_p.S1228T|KAT6B_ENST00000372714.1_Missense_Mutation_p.S1228T|KAT6B_ENST00000372711.1_Missense_Mutation_p.S1337T|KAT6B_ENST00000372724.1_Missense_Mutation_p.S1228T NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1520 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CAAAAGAACAGCAAGGAAGTC 0.552000 14 408 0 0 0.105934 0 0 ZNF320 162967 broad.mit.edu 37 19 53367338 53367338 + Missense_Mutation SNP G G A rs4803014 by1000genomes TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr19:53367338G>A ENST00000597909.1 - 6 534 c.298C>T c.(298-300)Cgc>Tgc p.R100C A2RRD8 ZN320_HUMAN zinc finger protein 320 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) TGTATAAAGCGTTCTGTGCAG 0.448000 10 276 0 0 0.069234 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 7 187 0 0 0.248553 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 482 --- --- --- --- MST1L 0 broad.mit.edu 37 1 17084730 17084730 + RNA DEL G G - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:17084730delG ENST00000455405.2 - 0 286 p.R494fs*37(1) AAGCACTGCCGGGCAGTCAGT 0.582 8 49 --- --- --- --- JAK1 3716 broad.mit.edu 37 1 65306996 65306997 + Frame_Shift_Ins INS - - T TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:65306996_65306997insT ENST00000342505.4 - 19 2828_2829 c.2580_2581insA c.(2578-2583)aacagcfs p.NS860fs NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 860 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCAGTTGCTGGTTTTTTTTCTG 0.470 Mis ALL 10 631 --- --- --- --- LPAR3 23566 broad.mit.edu 37 1 85331664 85331665 + Frame_Shift_Ins INS - - A rs76299065 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 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 10 696 --- --- --- --- RBMXL1 494115 broad.mit.edu 37 1 89448500 89448501 + In_Frame_Ins INS - - CAT TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:89448500_89448501insCAT ENST00000399794.2 - 3 1724_1725 c.1009_1010insATG c.(1009-1011)ttg>ATGttg p.336_337insM CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_In_Frame_Ins_p.336_337insM|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 336 Ser-rich. nucleotide binding|RNA binding CCTGTCACAACTTGAGTAGAGA 0.500 12 1515 --- --- --- --- BRDT 676 broad.mit.edu 37 1 92447228 92447230 + In_Frame_Del DEL AGC AGC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:92447228_92447230delAGC ENST00000370389.2 + 12 2623_2625 c.1699_1701delAGC c.(1699-1701)del p.S575del BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) ACTGAGTGAGagcagcagcagca 0.419 7 523 --- --- --- --- CLCC1 23155 broad.mit.edu 37 1 109477407 109477407 + Frame_Shift_Del DEL T T - rs150759040 by1000genomes TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:109477407delT ENST00000369971.2 - 11 1670 c.1541delA c.(1540-1542)agfs p.K514fs CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369976.1_Intron NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 514 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) GAGCTGGGCCTTTTCCGCTGC 0.597 7 788 --- --- --- --- ADAM30 11085 broad.mit.edu 37 1 120436591 120436591 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:120436591delT ENST00000369400.1 - 1 2527 c.2369delA c.(2368-2370)agfs p.K790fs NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 790 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GCCCGGTTACTTTTTTTGTTT 0.358 9 1307 --- --- --- --- SV2A 0 broad.mit.edu 37 1 149885223 149885225 + In_Frame_Del DEL TCA TCA - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:149885223_149885225delTCA ENST00000369146.3 - 2 658_660 c.168_170delTGA c.(166-171)gac>ga p.DD56del SV2A_ENST00000369145.1_In_Frame_Del_p.DD56del NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 56 Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) AGCAGGGAAGTCATCATCATCAT 0.542 7 624 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 10 663 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 9 1593 --- --- --- --- ISG20L2 81875 broad.mit.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:156694023delG ENST00000313146.6 - 2 1647 c.865delC c.(865-867)tcfs p.L289fs ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCGGTTGAGGGGGGGGATA 0.557 12 570 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del 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 8 852 --- --- --- --- TGFB2 7042 broad.mit.edu 37 1 218609370 218609371 + Frame_Shift_Ins INS - - A TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr1:218609370_218609371insA ENST00000366929.4 + 6 1364_1365 c.897_898insA c.(895-900)agaaaafs p.RK299fs TGFB2_ENST00000366930.4_Frame_Shift_Ins_p.RK271fs|TGFB2_ENST00000479322.1_3'UTR NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 271 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) AGTCCACTAGGAAAAAAAACAG 0.431 7 466 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 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 7 563 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 13 526 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 7 888 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710012 38710013 + RNA INS - - A rs71402229 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:38710012_38710013insA ENST00000417039.1 - 0 696 CTTACTTCTTtaaaaaataaat 0.252 8 47 --- --- --- --- VRK2 7444 broad.mit.edu 37 2 58373509 58373509 + Frame_Shift_Del DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:58373509delA ENST00000435505.2 + 15 1827 c.1082delA c.(1081-1083)gafs p.E361fs VRK2_ENST00000417641.2_Frame_Shift_Del_p.E361fs|VRK2_ENST00000340157.4_Frame_Shift_Del_p.E361fs|VRK2_ENST00000412104.2_Frame_Shift_Del_p.E361fs|VRK2_ENST00000440705.2_Frame_Shift_Del_p.E338fs Q86Y07 VRK2_HUMAN vaccinia related kinase 2 361 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 AGGTTAATCGAAAAAAAAGTC 0.383 8 357 --- --- --- --- BCL11A 53335 broad.mit.edu 37 2 60689253 60689254 + Frame_Shift_Ins INS - - G TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:60689253_60689254insG ENST00000335712.6 - 4 1020_1021 c.793_794insC c.(793-795)gttfs p.V265fs BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.V265fs|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000359629.5_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 265 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGGACTAAACAGGGGGGGAGTG 0.584 T IGH@ B-CLL 8 328 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74687550 74687550 + Frame_Shift_Del DEL T T - rs8469 byFrequency TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:74687550delT ENST00000393972.3 + 5 857 c.654delT c.(652-654)ccfs p.P218fs WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Frame_Shift_Del_p.P184fs|WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs Q96G27 WBP1_HUMAN WW domain binding protein 1 184 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 GTGCCCCCCCTCATCAGGAGG 0.612 10 767 --- --- --- --- LIPT1 51601 broad.mit.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:99778781delA ENST00000393477.3 + 4 713 c.361delA c.(361-363)aafs p.K123fs LIPT1_ENST00000393473.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs|MRPL30_ENST00000410042.1_Intron NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 123 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) CTTTACAACCAAAAAAAAGTA 0.388 9 394 --- --- --- --- ERCC3 2071 broad.mit.edu 37 2 128046944 128046946 + In_Frame_Del DEL TCT TCT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:128046944_128046946delTCT ENST00000493187.2 - 6 1060_1062 c.597_599delAGA c.(595-600)gag>ga p.EE199del ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 263 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGTCTGTGTCTCTTCTTCTTCTT 0.473 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 304 --- --- --- --- FMNL2 114793 broad.mit.edu 37 2 153504389 153504390 + Frame_Shift_Del DEL TT TT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:153504389_153504390delTT ENST00000288670.9 + 26 3616_3617 c.3249_3250delTT c.(3247-3252)cgctfs p.RS1083fs FMNL2_ENST00000475377.2_3'UTR NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 0 actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 AGAACTTGCGTTCTGTTAATGG 0.495 10 1053 --- --- --- --- PPIG 9360 broad.mit.edu 37 2 170493804 170493804 + Frame_Shift_Del DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:170493804delA ENST00000260970.3 + 14 2256 c.2036delA c.(2035-2037)gafs p.E679fs PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 679 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) AACAGCAGGGAAAAAAAGGCT 0.358 7 442 --- --- --- --- RBM45 129831 broad.mit.edu 37 2 178977303 178977304 + Frame_Shift_Ins INS - - G rs146365140 by1000genomes TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:178977303_178977304insG ENST00000286070.5 + 1 122_123 c.30_31insG c.(28-33)ggggggfs p.GG10fs NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 10 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) CTGCGAGCGGCGGGGGCTTCCG 0.644 OREG0015102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 290 --- --- --- --- KANSL1L 151050 broad.mit.edu 37 2 210887680 210887680 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:210887680delT ENST00000281772.9 - 15 3220 c.2957delA c.(2956-2958)atfs p.N986fs KANSL1L_ENST00000418791.1_Frame_Shift_Del_p.N944fs NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 986 CTGTCACCTATTTTTTTTAAC 0.418 7 262 --- --- --- --- DOCK10 55619 broad.mit.edu 37 2 225729790 225729790 + Frame_Shift_Del DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:225729790delA ENST00000409592.3 - 12 1367 c.1254delT c.(1252-1254)ttfs p.F418fs DOCK10_ENST00000258390.7_Frame_Shift_Del_p.F424fs Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 424 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CCACACTCACAAAAAAAGGCT 0.398 8 624 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 8 418 --- --- --- --- COL4A4 1286 broad.mit.edu 37 2 227896886 227896886 + Frame_Shift_Del DEL C C - rs2229812 by1000genomes TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr2:227896886delC ENST00000396625.3 - 39 3891 c.3684delG c.(3682-3684)aafs p.K1229fs COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1229 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGGGACCTTTCTTTCCACGAG 0.522 7 587 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38162039 38162040 + Frame_Shift_Del DEL GA GA - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr3:38162039_38162040delGA ENST00000308059.6 + 34 4826_4827 c.4805_4806delGA c.(4804-4806)gfs p.G1602fs DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs|DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1602 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGTGCGAGTGGAGAGAGAGAGA 0.579 10 369 --- --- --- --- ROBO2 6092 broad.mit.edu 37 3 77657037 77657038 + Frame_Shift_Ins INS - - C TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr3:77657037_77657038insC ENST00000461745.1 + 21 4125_4126 c.3225_3226insC c.(3223-3228)ccccccfs p.PP1075fs ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.PP1075fs|ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.PP1091fs NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1075 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.V1079fs*22(1)|p.V1095fs*22(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TCCCTCTACCTCCCCCCCCAGT 0.431 7 321 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 7 159 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123368043 123368044 + Splice_Site INS - - G rs138786404 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr3:123368043_123368044insG ENST00000360772.3 - 26 4667 c.e26-2 MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site Q15746 MYLK_HUMAN myosin light chain kinase aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTTCGGCTCTGGGGGGGGCAC 0.624 9 536 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 11 346 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 7 705 --- --- --- --- RP11-455G16.1 0 broad.mit.edu 37 4 120116877 120116877 + Frame_Shift_Del DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr4:120116877delA ENST00000326780.3 - 2 290 c.236delT c.(235-237)tcfs p.F79fs RP11-455G16.1_ENST00000515843.1_Intron AAGTGGTATGAAAAAAAAATG 0.368 7 149 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr4:140810639_140810641delGCT ENST00000509479.2 - 2 2805_2807 c.1949_1951delAGC c.(1948-1953)ccg>c p.QP650del MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 646 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) GGAGGTGGCGgctgctgctgctg 0.586 9 342 --- --- --- --- PCDHB14 0 broad.mit.edu 37 5 140605423 140605423 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr5:140605423delT ENST00000239449.4 + 1 2346 c.2346delT c.(2344-2346)aafs p.N782fs PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.N629fs NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 782 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGTAGGAATATGGGGGAAA 0.368 9 554 --- --- --- --- BNIP1 662 broad.mit.edu 37 5 172578611 172578611 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr5:172578611delT ENST00000231668.9 + 3 324 c.220delT c.(220-222)ttfs p.F76fs BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Intron NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 59 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGCTTCCACATTTTTTTTTAA 0.348 11 437 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 8 904 --- --- --- --- HSP90AB1 3326 broad.mit.edu 37 6 44221052 44221052 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr6:44221052delT ENST00000371554.1 + 11 2216 c.2002delT c.(2002-2004)ttfs p.F668fs HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 668 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATCTTCTGGCTTTTCCCTTGA 0.527 8 2344 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr6:76599857_76599858insA ENST00000369981.3 + 26 3021_3022 c.2742_2743insA c.(2740-2745)caaaaafs p.QK914fs MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs Q9UM54 MYO6_HUMAN myosin VI 914 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K917fs*10(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 14 412 --- --- --- --- KIAA1009 22832 broad.mit.edu 37 6 84896233 84896233 + Frame_Shift_Del DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr6:84896233delA ENST00000403245.3 - 12 1332 c.1218delT c.(1216-1218)ttfs p.F406fs KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs|KIAA1009_ENST00000461137.1_5'UTR NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 406 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATTTTTGTCAAAAAAAAGGT 0.358 13 722 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129959602 129959603 + Frame_Shift_Ins INS - - T TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 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 9 1169 --- --- --- --- MED23 9439 broad.mit.edu 37 6 131919846 131919846 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr6:131919846delT ENST00000403834.3 - 19 2467 c.2294delA c.(2293-2295)atfs p.N765fs MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs Q9ULK4 MED23_HUMAN mediator complex subunit 23 759 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity p.N759fs*7(1)|p.N765fs*7(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CTCCTCCACATTTTTTTTCAG 0.378 9 513 --- --- --- --- PMS2CL 0 broad.mit.edu 37 7 6775132 6775133 + RNA INS - - TT rs72390141 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr7:6775132_6775133insTT ENST00000486256.1 + 0 833 NR_002217.1 GGTCATGTAAGTTTTTTTTTTT 0.401 9 26 --- --- --- --- NEUROD6 63974 broad.mit.edu 37 7 31378634 31378635 + Frame_Shift_Ins INS - - T TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr7:31378634_31378635insT ENST00000297142.3 - 2 570_571 c.248_249insA c.(247-249)aacfs p.N83fs NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 83 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GCTTTGTTGTCTTTTTTTTCCT 0.520 11 1250 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284886 38284887 + RNA DEL GT GT - rs73692143 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr7:38284886_38284887delGT ENST00000436911.2 - 0 330 ATTTGTCAAGgtgtgtgtgtgt 0.391 10 398 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 15 640 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)atfs p.I78fs OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 10 884 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150817 + RNA INS - - C TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr7:65150816_65150817insC ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCCC 0.465 9 30 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 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 10 304 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 9 732 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114269971 114269973 + In_Frame_Del DEL CAA CAA - rs149757187 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr7:114269971_114269973delCAA ENST00000393500.3 + 11 1103_1105 c.283_285delCAA c.(283-285)del p.Q116del AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del O15409 FOXP2_HUMAN forkhead box P2 191 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 acagcagcagcaacaacaacaac 0.502 12 253 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 12 119 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 8 346 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 12 18 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 7 862 --- --- --- --- C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr8:86129664delT ENST00000417663.2 - 2 136 c.65delA c.(64-66)acfs p.N22fs C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1 NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1 Q8N0T1 CH059_HUMAN chromosome 8 open reading frame 59 22 AGCCTTAAAGTTTTTTTGGCT 0.343 7 736 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 100990177 100990178 + Frame_Shift_Ins INS - - T rs7841915 by1000genomes TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr8:100990177_100990178insT ENST00000360863.6 - 23 3680_3681 c.3486_3487insA c.(3484-3489)aatggcfs p.NG1162fs RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs|RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1162 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGGACTGCCAATTTTTTTTTCT 0.312 8 344 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 20 498 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139809072 139809072 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr8:139809072delT ENST00000303045.6 - 12 2032 c.1586delA c.(1585-1587)agfs p.K529fs COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 529 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTTTCACCCTTTTCCCCTTG 0.463 HNSCC(7;0.00092) 8 1643 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 8 135 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 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 9 623 --- --- --- --- ANKRD19P 0 broad.mit.edu 37 9 95599088 95599089 + RNA DEL CA CA - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr9:95599088_95599089delCA ENST00000473204.1 + 0 1169_1170 TTCACGGGCGCACACACACACA 0.421 7 293 --- --- --- --- RP11-569G13.2 0 broad.mit.edu 37 9 98857829 98857831 + RNA DEL CCT CCT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr9:98857829_98857831delCCT ENST00000432783.1 + 0 102 ccttccttcccctcctcctcctc 0.507 3 6 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 7 288 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr9:140087025_140087027delTCC ENST00000409012.4 - 2 1928_1930 c.1842_1844delGGA c.(1840-1845)gaa>ga p.EE620del TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 620 Glu-rich. sensory perception of sound stereocilium p.E315delE(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 ctcttcctcttcctcctcctcct 0.596 7 129 --- --- --- --- RP11-445N18.7 0 broad.mit.edu 37 10 45652094 45652111 + RNA DEL AAAAACGCGAGAAAAGAG AAAAACGCGAGAAAAGAG - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr10:45652094_45652111delAAAAACGCGAGAAAAGAG ENST00000427229.2 + 0 1739 tctaaaaaaaaaaaaCGCGAGAAAAGAGAACTTTggta 0.413 6 7 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 7 315 --- --- --- --- FRMPD2 143162 broad.mit.edu 37 10 49409420 49409420 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr10:49409420delT ENST00000374201.3 - 15 2107 c.1805delA c.(1804-1806)agfs p.K602fs FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.K570fs|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.K577fs NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 602 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GATGGTGAACTTTTTTTGCTG 0.463 7 860 --- --- --- --- PLAU 5328 broad.mit.edu 37 10 75673298 75673298 + Splice_Site DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr10:75673298delA ENST00000446342.1 + 6 893 c.409_splice c.e6-1 p.G137_splice PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 154 Kringle. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) GTCCTCCAGGAAAAAAGCCCT 0.517 7 2045 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 7 1401 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr10:105727547_105727549delAGA ENST00000369755.3 + 1 589_591 c.44_46delAGA c.(43-48)gag>g p.EK15del SLK_ENST00000335753.4_In_Frame_Del_p.EK15del NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 15 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGGGGAGCGAGAAGAAGAAGAA 0.448 8 654 --- --- --- --- OR8I2 120586 broad.mit.edu 37 11 55861308 55861308 + Frame_Shift_Del DEL T T - rs112181516 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr11:55861308delT ENST00000302124.2 + 1 556 c.525delT c.(523-525)cafs p.H175fs OR8I2_ENST00000560768.1_Frame_Shift_Del_p.H175fs Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C178fs*2(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GCATCAATCATTTTTTTTGTG 0.443 8 831 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 7 401 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 17 22 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 13 794 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 10 805 --- --- --- --- MYO1A 4640 broad.mit.edu 37 12 57422572 57422573 + Frame_Shift_Ins INS - - T TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr12:57422572_57422573insT ENST00000442789.2 - 29 3385_3386 c.3098_3099insA c.(3097-3099)aggfs p.R1033fs TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 1033 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.?(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AATGACTCCCCTTTTTTTTGTA 0.559 11 589 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 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 9 1020 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88566417 88566417 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr12:88566417delT ENST00000266712.6 + 8 1314 c.1094delT c.(1093-1095)ctfs p.L365fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 365 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GCATCGAACCTTTTTTTTCCA 0.313 13 709 --- --- --- --- FBXO21 23014 broad.mit.edu 37 12 117624320 117624320 + Frame_Shift_Del DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr12:117624320delA ENST00000427718.2 - 3 506 c.432delT c.(430-432)ttfs p.F144fs FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000330622.5_Frame_Shift_Del_p.F144fs NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 144 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity p.F144fs*9(1) breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) GTTCATCCTCAAAAAAAATCT 0.373 8 484 --- --- --- --- SBNO1 55206 broad.mit.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr12:123794283delT ENST00000420886.2 - 25 3415 c.3416delA c.(3415-3417)atfs p.N1139fs SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1139 ATP binding|DNA binding|hydrolase activity p.N1138fs*9(1) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATATCTTCCATTTTTTTTGGC 0.388 13 703 --- --- --- --- EEF1DP3 0 broad.mit.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr13:32527507_32527508delGT ENST00000428783.1 + 0 1207_1208 TCTGGCCTGAGTGTGTGTGTGT 0.460 9 306 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 8 558 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23528502 23528503 + Frame_Shift_Del DEL TC TC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr14:23528502_23528503delTC ENST00000262710.1 - 19 4207_4208 c.3880_3881delGA c.(3880-3882)afs p.E1294fs ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1294 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ccgctccctttctctctctctc 0.629 OREG0022595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 287 --- --- --- --- HOMEZ 57594 broad.mit.edu 37 14 23745310 23745310 + Frame_Shift_Del DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr14:23745310delA ENST00000357460.5 - 2 1291 c.1127delT c.(1126-1128)tafs p.L376fs HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 376 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L376fs*14(1) endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) CTGGCACTGTAAAAAAAAGGA 0.488 7 321 --- --- --- --- FBXO33 254170 broad.mit.edu 37 14 39871612 39871612 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr14:39871612delT ENST00000298097.7 - 2 1040 c.703delA c.(703-705)ttfs p.I235fs FBXO33_ENST00000554190.1_Intron NM_203301.3 NP_976046.1 Q7Z6M2 FBX33_HUMAN F-box protein 33 235 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) TACTGTTTAATTTTTTTGCCA 0.323 7 272 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_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 8 801 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28515875 28515876 + Frame_Shift_Ins INS - - TC TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr15:28515875_28515876insTC ENST00000261609.7 - 10 1330_1331 c.1222_1223insGA c.(1222-1224)gccfs p.A408fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 408 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CAGCGGAGGCATACAGGGCGTA 0.515 9 385 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 8 426 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57489984 57489984 + Frame_Shift_Del DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr15:57489984delA ENST00000267811.5 + 8 844 c.540delA c.(538-540)gcfs p.A180fs TCF12_ENST00000438423.2_Frame_Shift_Del_p.A180fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.A180fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.A180fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.A176fs NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 180 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CCTTGCAAGCAAAAAAAGTCA 0.343 T TEC extraskeletal myxoid chondrosarcoma 10 541 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182525 59182526 + Frame_Shift_Del DEL TC TC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr15:59182525_59182526delTC ENST00000380516.2 - 15 2120_2121 c.2033_2034delGA c.(2032-2034)afs p.R678fs SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs|AC025918.2_ENST00000452467.1_RNA NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 678 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGCGTTCCATTCTCTCTCTCTC 0.431 12 925 --- --- --- --- KIAA1024 23251 broad.mit.edu 37 15 79750586 79750586 + Frame_Shift_Del DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr15:79750586delA ENST00000305428.3 + 2 2172 c.2097delA c.(2095-2097)ttfs p.L699fs NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 699 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 TCAAGGCCTTAAAAAAAAGCC 0.542 8 773 --- --- --- --- C15orf40 123207 broad.mit.edu 37 15 83674354 83674354 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr15:83674354delT ENST00000304177.5 - 4 490 c.376delA c.(376-378)cafs p.T126fs C15orf40_ENST00000513601.2_Frame_Shift_Del_p.T153fs|C15orf40_ENST00000565712.1_Frame_Shift_Del_p.T68fs|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000451195.3_Intron NM_001160114.1|NM_144597.2 NP_001153586.1|NP_653198.2 Q8WUR7 CO040_HUMAN chromosome 15 open reading frame 40 126 large_intestine(3)|lung(2)|skin(1) 6 TGCTTTTATGTTTTTTTGGCT 0.488 7 855 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313074 5313076 + RNA DEL GGT GGT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr16:5313074_5313076delGGT ENST00000569895.1 + 0 304 GCAGggtgacggtggtggtggtg 0.483 7 234 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089303 61089303 + RNA DEL T T - rs80101907 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr16:61089303delT ENST00000591758.1 - 0 565 Cttcttcttcttttttttttt 0.244 7 124 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 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 14 333 --- --- --- --- SLC7A6 9057 broad.mit.edu 37 16 68330539 68330539 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr16:68330539delT ENST00000566454.1 + 11 1548 c.1279delT c.(1279-1281)ttfs p.F428fs SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.F428fs NM_001076785.2 NP_001070253.1 Q92536 YLAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 428 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) GCTGAGCGTGTTTTTCCCCAT 0.522 7 1203 --- --- --- --- AFG3L1P 0 broad.mit.edu 37 16 90053797 90053797 + RNA DEL G G - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr16:90053797delG ENST00000437774.1 + 0 731 NR_003226.1 aggtggaggaggtggaggagg 0.647 3 4 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7750177 7750178 + In_Frame_Ins INS - - ACCACC rs61462443 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr17:7750177_7750178insACCACC ENST00000254846.5 + 9 1141_1142 c.752_753insACCACC c.(751-753)tcc>tACCACCcc p.251_251S>YHP KDM6B_ENST00000448097.2_In_Frame_Ins_p.251_251S>YHP NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 251 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 ccaccaccattaccaccaccac 0.614 10 115 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8397095 8397097 + In_Frame_Del DEL CCT CCT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr17:8397095_8397097delCCT ENST00000360416.3 - 32 4301_4303 c.4163_4165delAGG c.(4162-4167)gcc>g p.EA1388del MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del 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 7 310 --- --- --- --- PLCD3 113026 broad.mit.edu 37 17 43192760 43192762 + In_Frame_Del DEL TCC TCC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr17:43192760_43192762delTCC ENST00000322765.5 - 9 1622_1624 c.1509_1511delGGA c.(1507-1512)gat>ga p.ED503del PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 503 intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.E503D(2) breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) ctcctcgtcatcctcctcctcct 0.670 8 85 --- --- --- --- RP11-156P1.3 0 broad.mit.edu 37 17 45128638 45128638 + RNA DEL G G - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr17:45128638delG ENST00000575173.1 - 0 418 Gtttttttttgttttgttttt 0.323 16 498 --- --- --- --- RP11-156P1.3 0 broad.mit.edu 37 17 45128639 45128639 + RNA DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr17:45128639delT ENST00000575173.1 - 0 418 tttttttttgttttgtttttt 0.323 10 510 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8793004 8793004 + Frame_Shift_Del DEL C C - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr18:8793004delC ENST00000359865.3 + 8 2038 c.1896delC c.(1894-1896)ggfs p.G632fs SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 AGCTCAGGGGCCCCCCCGTTT 0.552 7 1095 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 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_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000434436.3_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 8 193 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 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 9 289 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769141 31769142 + Frame_Shift_Ins INS - - C TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr19:31769141_31769142insC ENST00000240587.4 - 2 1884_1885 c.1557_1558insG c.(1555-1560)ggttgafs p.*520fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 520 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGGATATCAAGCCCCCCCTTGG 0.500 8 1212 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 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 13 964 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 8 143 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 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 7 600 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 14 974 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 8 397 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 11 293 --- --- --- --- SLC23A2 9962 broad.mit.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G G - rs138961929 TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr20:4850569delG ENST00000379333.1 - 12 1625 c.1233delC c.(1231-1233)ccfs p.P411fs SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000468355.1_5'UTR NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 411 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity p.I412fs*4(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TTGCGTGGATGGGGGGGGGTG 0.527 19 525 --- --- --- --- DSTN 11034 broad.mit.edu 37 20 17581679 17581680 + Frame_Shift_Ins INS - - T TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr20:17581679_17581680insT ENST00000246069.6 + 2 646_647 c.300_301insT c.(298-303)atttttfs p.IF100fs DSTN_ENST00000543261.1_Frame_Shift_Ins_p.IF83fs|DSTN_ENST00000474024.1_3'UTR NM_006870.3 NP_006861.1 P60981 DEST_HUMAN destrin (actin depolymerizing factor) 100 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding endometrium(1)|large_intestine(5)|lung(8)|skin(1) 15 AAGAGTTGATGTTTTTTTTGTG 0.356 8 428 --- --- --- --- PLA2G3 50487 broad.mit.edu 37 22 31536134 31536135 + Frame_Shift_Ins INS - - T TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr22:31536134_31536135insT ENST00000215885.3 - 1 458_459 c.206_207insA c.(205-207)ctcfs p.L69fs NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 69 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 AGCTACATGACTGCAGCCTCCT 0.649 7 565 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 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 7 147 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43218401 43218401 + Frame_Shift_Del DEL T T - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chr22:43218401delT ENST00000263245.5 - 9 906 c.687delA c.(685-687)aafs p.K229fs ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 229 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 CCAAACTTCCTTTTTTGGCCC 0.423 7 794 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chrX:76907782_76907784delTCC ENST00000373344.5 - 15 4591_4593 c.4377_4379delGGA c.(4375-4380)gaa>ga p.EE1463del ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1463 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ctcctcctcttcctcctcctcct 0.389 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 351 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 502 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AAGCcagcaacagcagcagcagc 0.532 9 231 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 13 446 --- --- --- --- RPL10 6134 broad.mit.edu 37 X 153627860 153627860 + Frame_Shift_Del DEL A A - TCGA-F2-7273-01A-11D-2154-08 TCGA-F2-7273-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3063058-e144-41a9-86f7-6e7a637bb797 fcff255b-3e83-4128-884c-2ec890589827 g.chrX:153627860delA ENST00000424325.2 + 4 303 c.115delA c.(115-117)aafs p.K40fs RPL10_ENST00000369817.2_Frame_Shift_Del_p.K40fs|RPL10_ENST00000406022.2_5'UTR NM_001256577.1|NM_001256580.1|NM_006013.3 NP_001243506.1|NP_001243509.1|NP_006004.2 P27635 RL10_HUMAN ribosomal protein L10 40 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCTGGGGCGGAAAAAGGCAAA 0.512 OREG0019957 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 644 --- --- --- ---