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 TFE3 7030 broad.mit.edu 37 X 48887764 48887764 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:48887764G>A ENST00000315869.7 - 10 1892 c.1633C>T c.(1633-1635)Cgg>Tgg p.R545W TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 545 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GAGGCAGCCCGCAGTGGGGAC 0.662000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 5 242 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768617 57768617 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:57768617C>T ENST00000371030.2 + 1 2543 c.2543C>T c.(2542-2544)aCg>aTg p.T848M NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 848 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGTGGGCCCACGCAGCCTGCC 0.637000 8 444 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 39 968 0 0 1 0 0 AP3D1 8943 broad.mit.edu 37 19 2110781 2110781 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:2110781G>A ENST00000355272.6 - 27 3306 c.3100C>T c.(3100-3102)Ctc>Ttc p.L1034F AP3D1_ENST00000356926.4_Missense_Mutation_p.L931F|AP3D1_ENST00000350812.6_Missense_Mutation_p.L803F|AP3D1_ENST00000345016.5_Missense_Mutation_p.L972F NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 972 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGCATTGAGTGAGTCCAGC 0.667000 12 262 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129214429 129214429 + Silent SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:129214429C>T ENST00000296266.3 + 19 2532 c.2340C>T c.(2338-2340)ctC>ctT p.L780L IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000504021.1_Silent_p.L605L|IFT122_ENST00000440957.2_Silent_p.L520L|IFT122_ENST00000507564.1_Silent_p.L721L|IFT122_ENST00000431818.2_Silent_p.L579L|IFT122_ENST00000349441.2_Silent_p.L618L|IFT122_ENST00000348417.2_Silent_p.L729L|IFT122_ENST00000347300.2_Silent_p.L670L NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 729 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 ACACCGACCTCTGCATGTTTG 0.537000 16 474 0 0 1 0 0 FAM86C2P 0 broad.mit.edu 37 11 67564162 67564162 + RNA SNP A A G rs75324740 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:67564162A>G ENST00000528089.1 - 0 978 CACATAGCTCAGTGGTGAACA 0.647000 9 539 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47831434 47831434 + Missense_Mutation SNP C C A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr21:47831434C>A ENST00000359568.5 + 28 5554 c.5447C>A c.(5446-5448)gCc>gAc p.A1816D PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1816 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CACAGCCAGGCCCTGGAGGCC 0.706000 9 99 0.361761 0.366369 1 1 0 NCOR2 9612 broad.mit.edu 37 12 124887093 124887093 + Silent SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:124887093C>T ENST00000356219.3 - 15 1652 c.1497G>A c.(1495-1497)caG>caA p.Q499Q NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 499 Poly-Gln. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.Q499Q(9) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) gctgctgctgctgttgttgct 0.617000 3 45 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116430660 116430660 + Silent SNP A A T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:116430660A>T ENST00000395715.3 - 6 3298 c.2721T>A c.(2719-2721)gtT>gtA p.V907V TRPS1_ENST00000519076.1_Silent_p.V648V|TRPS1_ENST00000520276.1_Silent_p.V898V|TRPS1_ENST00000220888.5_Silent_p.V894V NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 894 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGGCACAAAAAACACCGGAGC 0.488000 Langer-Giedion syndrome 29 830 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23926839 23926839 + Missense_Mutation SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:23926839A>G ENST00000402377.3 - 4 1654 c.1513T>C c.(1513-1515)Tcc>Ccc p.S505P ZNF681_ENST00000395385.3_Missense_Mutation_p.S436P NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CATTTGTAGGATTTCTCTCCA 0.373000 10 580 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74474203 74474203 + Silent SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:74474203G>A ENST00000394019.2 - 19 2416 c.2019C>T c.(2017-2019)ttC>ttT p.F673F SLC4A5_ENST00000377632.1_Silent_p.F673F|SLC4A5_ENST00000377634.4_Silent_p.F673F|SLC4A5_ENST00000359484.4_Silent_p.F609F|SLC4A5_ENST00000357822.5_Silent_p.F673F|SLC4A5_ENST00000346834.4_Silent_p.F673F|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Silent_p.F609F|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Silent_p.F673F NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 673 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AGGTAGTGATGAAGTTTGGCT 0.532000 61 1537 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 39 412 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579317 7579317 + Missense_Mutation SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:7579317A>G ENST00000420246.2 - 4 502 c.370T>C c.(370-372)Tgc>Cgc p.C124R TP53_ENST00000455263.2_Missense_Mutation_p.C124R|TP53_ENST00000359597.4_Missense_Mutation_p.C124R|TP53_ENST00000413465.2_Missense_Mutation_p.C124R|TP53_ENST00000445888.2_Missense_Mutation_p.C124R|TP53_ENST00000269305.4_Missense_Mutation_p.C124R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 124 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.C124G(4)|p.C124R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.C124fs*46(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124fs*48(1)|p.C124fs*25(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTGACCGTGCAAGTCACAGAC 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 649 0 0 1 0 0 SPC24 147841 broad.mit.edu 37 19 11258504 11258504 + Missense_Mutation SNP C C A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:11258504C>A ENST00000592540.1 - 4 508 c.477G>T c.(475-477)atG>atT p.M159I NM_182513.2 NP_872319.1 Q8NBT2 SPC24_HUMAN SPC24, NDC80 kinetochore complex component 159 Interaction with the C-terminus of SPBC25. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1) 5 TGCCTTTGACCATCCCTGGCT 0.413000 5 124 1 1 1 1 0 NFE2L3 9603 broad.mit.edu 37 7 26225102 26225102 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:26225102G>A ENST00000056233.3 + 4 2043 c.1784G>A c.(1783-1785)tGt>tAt p.C595Y NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 595 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.C595Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GCGCAGAACTGTCGTAAACGC 0.368000 6 303 0 0 1 0 0 ELAVL3 1995 broad.mit.edu 37 19 11565684 11565684 + Missense_Mutation SNP G G A rs143463189 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:11565684G>A ENST00000359227.3 - 7 1185 c.761C>T c.(760-762)tCg>tTg p.S254L ELAVL3_ENST00000438662.2_Intron NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 254 cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 GGCGATGAGCGACAGGGGACT 0.677000 27 1945 0 0 1 0 0 MAP7D3 79649 broad.mit.edu 37 X 135313711 135313711 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:135313711C>T ENST00000316077.9 - 8 1625 c.1405G>A c.(1405-1407)Gct>Act p.A469T MAP7D3_ENST00000370661.1_Missense_Mutation_p.A434T|MAP7D3_ENST00000370663.5_Missense_Mutation_p.A451T NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 469 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) ACCTTTGGAGCGTCTCTCGCT 0.428000 34 1091 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505772 195505772 + Missense_Mutation SNP C C G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:195505772C>G ENST00000463781.3 - 2 13138 c.12679G>C c.(12679-12681)Gtc>Ctc p.V4227L MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V4227L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 984 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.V4227L(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGCTGGTGACAGGAAGAGGG 0.582000 4 96 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886737 123886737 + Silent SNP T T C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:123886737T>C ENST00000320891.4 + 1 456 c.456T>C c.(454-456)tcT>tcC p.S152S NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TCAGTGGCTCTCTGCACTCTG 0.562000 37 1241 0 0 1 0 0 TOMM70A 9868 broad.mit.edu 37 3 100092471 100092471 + Missense_Mutation SNP G G C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:100092471G>C ENST00000284320.5 - 8 1694 c.1246C>G c.(1246-1248)Caa>Gaa p.Q416E NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 416 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 TCTTCAACTTGATCAAGGAGT 0.358000 9 520 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 14 401 0 0 1 0 0 PDK2 5164 broad.mit.edu 37 17 48187345 48187345 + Missense_Mutation SNP C C A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:48187345C>A ENST00000503176.1 + 11 1269 c.1108C>A c.(1108-1110)Cgc>Agc p.R370S PDK2_ENST00000007708.3_Missense_Mutation_p.R306S NM_002611.4 NP_002602.2 Q15119 PDK2_HUMAN pyruvate dehydrogenase kinase, isozyme 2 370 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 20 CTCGGTGGAGCGCCTGCCTGT 0.662000 Autosomal Dominant Polycystic Kidney Disease 3 53 0.150653 0.153551 1 1 0 CCDC159 126075 broad.mit.edu 37 19 11464523 11464523 + Missense_Mutation SNP G G T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:11464523G>T ENST00000588790.1 + 11 1192 c.745G>T c.(745-747)Gcc>Tcc p.A249S CCDC159_ENST00000458408.1_Missense_Mutation_p.A249S P0C7I6 CC159_HUMAN coiled-coil domain containing 159 364 endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 5 GTGCTCGGGGGCCTGTCCCAA 0.587000 6 59 0.00307968 0.00324284 1 1 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 8 644 0 0 1 0 0 HNRNPC 3183 broad.mit.edu 37 14 21680019 21680019 + Missense_Mutation SNP G G T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:21680019G>T ENST00000430246.2 - 6 3538 c.587C>A c.(586-588)tCt>tAt p.S196Y HNRNPC_ENST00000557201.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556897.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000556628.1_Missense_Mutation_p.S129Y|HNRNPC_ENST00000556513.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000553753.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000555883.1_Missense_Mutation_p.S153Y|HNRNPC_ENST00000555914.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000320084.7_Missense_Mutation_p.S209Y|HNRNPC_ENST00000555309.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000554969.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000336053.6_Missense_Mutation_p.S196Y|HNRNPC_ENST00000449098.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000553300.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000554455.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000420743.2_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556142.1_Missense_Mutation_p.S209Y P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 209 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) TTCCAGGAGAGAATCCACTTT 0.363000 25 1051 2.89027e-11 3.3544e-11 1 1 0 ZCCHC14 23174 broad.mit.edu 37 16 87525409 87525409 + Missense_Mutation SNP T T A rs146149024 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:87525409T>A ENST00000268616.4 - 1 242 c.25A>T c.(25-27)Agc>Tgc p.S9C NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 9 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) TGGTGGAAGCTGAAGGCCGGG 0.682000 6 267 0 0 1 0 0 NOTUM 147111 broad.mit.edu 37 17 79910974 79910974 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:79910974C>T ENST00000409678.3 - 11 1737 c.1354G>A c.(1354-1356)Gtc>Atc p.V452I NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 452 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TGGTCTCGGACGGTGGGGCAT 0.662000 7 440 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124826478 124826478 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:124826478C>T ENST00000423114.2 - 10 1638 c.1639G>A c.(1639-1641)Gag>Aag p.E547K SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E271K|SLC12A8_ENST00000393469.4_Missense_Mutation_p.E518K|SLC12A8_ENST00000430155.2_Missense_Mutation_p.E319K|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E518K A0AV02 S12A8_HUMAN solute carrier family 12, member 8 518 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 TCAGAGATCTCGACAGGGAAA 0.552000 14 660 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18675802 18675802 + Missense_Mutation SNP C C T rs150329747 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:18675802C>T ENST00000308799.4 + 11 2390 c.2171C>T c.(2170-2172)aCg>aTg p.T724M FBXW10_ENST00000395667.1_Missense_Mutation_p.T695M|FBXW10_ENST00000395665.4_Missense_Mutation_p.T695M|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000301938.4_Missense_Mutation_p.T642M Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 695 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GTggaaaaaacgaaacaaaag 0.413000 13 985 0 0 1 0 0 RPS27A 6233 broad.mit.edu 37 2 55462084 55462084 + Missense_Mutation SNP C C A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:55462084C>A ENST00000272317.6 + 5 631 c.307C>A c.(307-309)Ctg>Atg p.L103M RPS27A_ENST00000402285.3_Missense_Mutation_p.L103M|RPS27A_ENST00000404735.1_Missense_Mutation_p.L103M NM_002954.5 NP_002945.1 P62979 RS27A_HUMAN ribosomal protein S27a 103 activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane metal ion binding|structural constituent of ribosome cervix(1)|ovary(1)|urinary_tract(1) 3 GCTGGCTGTCCTGAAATATTA 0.383000 4 155 0.00116845 0.00124686 1 1 0 SLC22A8 9376 broad.mit.edu 37 11 62760741 62760741 + Nonsense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:62760741G>A ENST00000336232.2 - 11 1732 c.1597C>T c.(1597-1599)Cag>Tag p.Q533* SLC22A8_ENST00000535878.1_Nonsense_Mutation_p.Q410*|SLC22A8_ENST00000430500.2_Nonsense_Mutation_p.Q533*|SLC22A8_ENST00000311438.8_3'UTR|SLC22A8_ENST00000545207.1_Nonsense_Mutation_p.Q442* NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 533 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 CCGTGAGGCTGTAGAGGGATC 0.607000 5 190 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 8 483 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332827 70332827 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:70332827C>T ENST00000338508.4 - 32 3573 c.3574G>A c.(3574-3576)Gcg>Acg p.A1192T SHANK2_ENST00000409161.1_Missense_Mutation_p.A595T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A596T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A812T Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 812 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCGCTGCTCGCGGAGGGCACT 0.706000 9 457 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70360666 70360666 + Nonsense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:70360666C>T ENST00000333646.6 + 42 6434 c.6235C>T c.(6235-6237)Cag>Tag p.Q2079* MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_Nonsense_Mutation_p.Q2076*|MED12_ENST00000374102.1_Nonsense_Mutation_p.Q2075* NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2076 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) gcagcagcagcagtaccacat 0.597000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 7 294 0 0 1 0 0 FAM13A 10144 broad.mit.edu 37 4 89950680 89950680 + Missense_Mutation SNP G G A rs114435452 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:89950680G>A ENST00000264344.5 - 2 355 c.148C>T c.(148-150)Cgg>Tgg p.R50W FAM13A_ENST00000511976.1_De_novo_Start_InFrame|FAM13A_ENST00000515600.1_Missense_Mutation_p.R50W|FAM13A_ENST00000509094.1_Missense_Mutation_p.R50W|FAM13A_ENST00000502459.1_5'UTR NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 50 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 AGCCCCTGCCGTTCAAGTTCT 0.418000 26 1035 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513734 14513734 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr18:14513734C>T ENST00000358970.5 - 10 1459 c.1460G>A c.(1459-1461)gGa>gAa p.G487E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 487 p.G487E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTGTGATATTCCAGTGTTCTG 0.323000 8 369 0 0 1 0 0 LRRC3 81543 broad.mit.edu 37 21 45877295 45877295 + Silent SNP G G T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr21:45877295G>T ENST00000291592.4 + 2 1085 c.768G>T c.(766-768)ggG>ggT p.G256G NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 256 integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) TCGGCCCGGGGCCCTAGCGCC 0.637000 15 224 3.99206e-14 4.70176e-14 1 1 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 5 224 0 0 1 0 0 C7orf10 79783 broad.mit.edu 37 7 40899974 40899974 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:40899974G>A ENST00000309930.5 + 15 1336 c.1312G>A c.(1312-1314)Ggg>Agg p.G438R C7orf10_ENST00000335693.4_Missense_Mutation_p.G412R|C7orf10_ENST00000401647.2_Missense_Mutation_p.G364R|C7orf10_ENST00000464028.1_3'UTR NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 412 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 CCCGCTGCTCGGGCAGCACAC 0.567000 26 1118 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:90162462A>G ENST00000567960.1 + 0 1198 TUBB8P7_ENST00000564451.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 22 880 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197062202 197062202 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:197062202C>T ENST00000367409.4 - 21 9530 c.9274G>A c.(9274-9276)Ggt>Agt p.G3092S ASPM_ENST00000294732.7_Missense_Mutation_p.G1507S|ASPM_ENST00000367408.1_Missense_Mutation_p.G757S NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 3092 IQ 37. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 ACTAGCCAACCACGCACCAGT 0.323000 10 517 0 0 1 0 0 ZNF134 7693 broad.mit.edu 37 19 58131705 58131705 + Missense_Mutation SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:58131705A>G ENST00000396161.5 + 3 528 c.218A>G c.(217-219)cAt>cGt p.H73R ZNF134_ENST00000597975.1_3'UTR NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 73 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GGTACACACCATGGACTGAAA 0.488000 13 784 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145741394 145741394 + Missense_Mutation SNP C C A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:145741394C>A ENST00000428558.2 - 5 1150 c.1109G>T c.(1108-1110)cGt>cTt p.R370L RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 370 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GAGCCTGCTACGGAGTGCCCG 0.642000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 4 263 1 1 1 1 0 ANKRD11 29123 broad.mit.edu 37 16 89346134 89346134 + Silent SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:89346134G>A ENST00000301030.4 - 9 7276 c.6816C>T c.(6814-6816)gaC>gaT p.D2272D ANKRD11_ENST00000378330.2_Silent_p.D2272D NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2272 Pro-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GGGCGGGGCCGTCAGGGGCAC 0.756000 3 40 0 0 1 0 0 IMPAD1 54928 broad.mit.edu 37 8 57905955 57905955 + Missense_Mutation SNP G G C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:57905955G>C ENST00000262644.4 - 1 448 c.190C>G c.(190-192)Cgc>Ggc p.R64G NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 64 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) AGCATCTCGCGCAAGTCCACG 0.741000 7 177 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50664531 50664531 + Missense_Mutation SNP T T C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:50664531T>C ENST00000439308.2 - 9 2273 c.1781A>G c.(1780-1782)gAc>gGc p.D594G TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.D594G NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 594 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GACGTATATGTCGTGGGCAAT 0.557000 37 1264 0 0 1 0 0 TNFRSF1B 7133 broad.mit.edu 37 1 12262126 12262126 + Missense_Mutation SNP G G T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:12262126G>T ENST00000376259.3 + 9 1092 c.1003G>T c.(1003-1005)Gcc>Tcc p.A335S TNFRSF1B_ENST00000492361.1_3'UTR NM_001066.2 NP_001057.1 P20333 TNR1B_HUMAN tumor necrosis factor receptor superfamily, member 1B 335 apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GGAGAGCTCGGCCAGTGCGTT 0.706000 11 68 0.00136819 0.00145029 1 1 0 FOLH1B 219595 broad.mit.edu 37 11 89395333 89395333 + RNA SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:89395333A>G ENST00000532352.1 + 0 731 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GCTTATAGGCATGGAATTGCA 0.348000 7 369 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64580216 64580216 + Missense_Mutation SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:64580216A>G ENST00000357395.3 + 67 13066 c.1922A>G c.(1921-1923)aAc>aGc p.N641S SYNE2_ENST00000555002.1_Missense_Mutation_p.N890S|SYNE2_ENST00000344113.4_Missense_Mutation_p.N4256S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N4271S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.N641S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N4256S Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4256 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAACAAGCCAACGTGGCAGTT 0.577000 10 197 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90448153 90448153 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:90448153G>A ENST00000369393.3 - 33 4730 c.4615C>T c.(4615-4617)Cgg>Tgg p.R1539W MDN1_ENST00000428876.1_Missense_Mutation_p.R1539W Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1539 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCTGTAAACCGGTTTCTTAAG 0.378000 12 499 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158631116 158631116 + Missense_Mutation SNP G G C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:158631116G>C ENST00000368148.3 - 18 2728 c.2548C>G c.(2548-2550)Caa>Gaa p.Q850E SPTA1_ENST00000368147.3_Missense_Mutation_p.Q850E NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 850 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GTTATCTCTTGAATGCGTGGT 0.443000 21 859 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12462842 12462842 + Missense_Mutation SNP T T C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:12462842T>C ENST00000242804.4 - 5 830 c.248A>G c.(247-249)aAt>aGt p.N83S ZNF442_ENST00000438182.1_Missense_Mutation_p.N14S NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 83 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 CCTCCTGGGATTTCTGTGCTG 0.358000 12 526 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 185 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72969219 72969219 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:72969219C>T ENST00000262209.4 - 10 1334 c.1127G>A c.(1126-1128)cGt>cAt p.R376H NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 376 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CAGAAAATTACGTCCAAAATT 0.299000 7 247 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 7 331 0 0 1 0 0 TAP2 6891 broad.mit.edu 37 6 32800563 32800563 + Silent SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:32800563C>T ENST00000374897.2 - 6 1115 c.984G>A c.(982-984)gcG>gcA p.A328A TAP2_ENST00000374899.4_Silent_p.A328A|TAP2_ENST00000452392.2_Silent_p.A328A NM_000544.3 NP_000535.3 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 328 ABC transmembrane type-1.|Involved in peptide-binding site. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding p.A328A(1) CCACCTGCCCCGCCCTGGCCA 0.592000 8 509 0 0 1 0 0 TXNIP 10628 broad.mit.edu 37 1 145440118 145440118 + Silent SNP T T A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:145440118T>A ENST00000369317.4 + 4 886 c.552T>A c.(550-552)atT>atA p.I184I TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 184 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTGCTCGAATTGACAGAAAAG 0.448000 45 1093 0 0 1 0 0 WDR34 89891 broad.mit.edu 37 9 131403176 131403176 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:131403176C>T ENST00000372715.2 - 2 289 c.229G>A c.(229-231)Gcc>Acc p.A77T NM_052844.3 NP_443076.2 Q96EX3 WDR34_HUMAN WD repeat domain 34 77 cytoplasm central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1) 9 CTGGCCTGGGCGGATGCACTG 0.652000 12 430 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 10 725 0 0 1 0 0 RP11-867G23.8 0 broad.mit.edu 37 11 66130881 66130881 + Missense_Mutation SNP C C A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:66130881C>A ENST00000531602.1 + 2 263 c.130C>A c.(130-132)Ctg>Atg p.L44M SLC29A2_ENST00000357440.2_3'UTR|RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000546034.1_3'UTR|SLC29A2_ENST00000311161.7_3'UTR|SLC29A2_ENST00000544554.1_3'UTR p.L44M(1) kidney(1) 1 CGAGAAGAGGCTGCCAAAGAG 0.642000 10 101 1.58986e-06 1.79283e-06 1 1 0 EZR 7430 broad.mit.edu 37 6 159197482 159197482 + Silent SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:159197482A>G ENST00000367075.3 - 8 921 c.753T>C c.(751-753)aaT>aaC p.N251N EZR_ENST00000392177.4_Silent_p.N219N|EZR_ENST00000337147.7_Silent_p.N251N NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 251 FERM.|Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) ACTTTTTGTCATTGAAAGAGA 0.378000 T ROS1 NSCLC 19 587 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 18 867 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 8 578 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 21 1095 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112486440 112486440 + Silent SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:112486440C>T ENST00000230538.7 - 13 1987 c.1590G>A c.(1588-1590)gtG>gtA p.V530V LAMA4_ENST00000522006.1_Silent_p.V523V|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Silent_p.V523V|LAMA4_ENST00000424408.2_Silent_p.V523V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 530 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GAGACATGTTCACCACTTCCA 0.453000 12 549 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73011747 73011747 + Silent SNP T T G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:73011747T>G ENST00000313375.3 - 9 1415 c.1368A>C c.(1366-1368)ccA>ccC p.P456P MLXIPL_ENST00000434326.1_Silent_p.P363P|MLXIPL_ENST00000429400.2_Silent_p.P456P|MLXIPL_ENST00000414749.2_Silent_p.P456P|MLXIPL_ENST00000395189.1_Silent_p.P363P|MLXIPL_ENST00000354613.1_Silent_p.P456P NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 456 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GTGGGGTGGGTGGGAAGGCTG 0.637000 5 19 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29274886 29274886 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:29274886G>A ENST00000379558.4 + 20 3338 c.2987G>A c.(2986-2988)cGc>cAc p.R996H FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.R941H NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 996 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GGAGGCAGCCGCAAGGCCACT 0.557000 5 221 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30723229 30723229 + Silent SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:30723229A>G ENST00000262518.4 + 12 1951 c.1566A>G c.(1564-1566)gcA>gcG p.A522A SRCAP_ENST00000344771.4_Silent_p.A522A|SRCAP_ENST00000395059.2_Silent_p.A522A NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 522 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GAAGTTCAGCATCAGAGGAAT 0.483000 13 422 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41119074 41119074 + Silent SNP G G T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:41119074G>T ENST00000308370.7 + 19 2604 c.2604G>T c.(2602-2604)gcG>gcT p.A868A LTBP4_ENST00000545697.1_Silent_p.A321A|LTBP4_ENST00000396819.3_Silent_p.A801A|LTBP4_ENST00000204005.9_Silent_p.A831A|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 868 Cys-rich.|EGF-like 9; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity p.A868A(1) central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCTACCGGGCGCCGTCGGGTC 0.692000 9 35 1.76689e-08 2.02112e-08 1 1 0 RPH3A 22895 broad.mit.edu 37 12 113303278 113303278 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:113303278G>A ENST00000389385.4 + 6 787 c.290G>A c.(289-291)cGc>cAc p.R97H RPH3A_ENST00000420983.2_Missense_Mutation_p.R97H|RPH3A_ENST00000551052.1_Missense_Mutation_p.R93H|RPH3A_ENST00000415485.3_Missense_Mutation_p.R97H|RPH3A_ENST00000447659.2_Missense_Mutation_p.R48H|RPH3A_ENST00000543106.2_Missense_Mutation_p.R97H|RPH3A_ENST00000548866.1_Missense_Mutation_p.R48H NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 97 RabBD. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GGGGTGAACCGCTGCATACTG 0.522000 34 631 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 17 114 0 0 1 0 0 ZNF195 0 broad.mit.edu 37 11 3380510 3380510 + Silent SNP T T C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:3380510T>C ENST00000354599.6 - 4 1616 c.1512A>G c.(1510-1512)aaA>aaG p.K504K ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000005082.9_Silent_p.K553K NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) ATTTGTAGGGTTTCTCTCCAG 0.393000 9 702 0 0 1 0 0 TRH 7200 broad.mit.edu 37 3 129695840 129695840 + Silent SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:129695840G>A ENST00000302649.3 + 3 1037 c.510G>A c.(508-510)gaG>gaA p.E170E TRH_ENST00000507066.1_Silent_p.E166E NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 170 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity p.E170E(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 Gggaagaagaggaggaggagg 0.642000 7 340 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:89395322C>T ENST00000532352.1 + 0 720 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTCAGAATACGCTTATAGGC 0.343000 7 294 0 0 1 0 0 KDM2A 22992 broad.mit.edu 37 11 67018096 67018096 + Silent SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:67018096G>A ENST00000529006.2 + 17 3041 c.2595G>A c.(2593-2595)gaG>gaA p.E865E KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.E323E|KDM2A_ENST00000530342.1_Silent_p.E426E NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 865 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 aggaggaggaggaagaTGACA 0.667000 5 208 0 0 1 0 0 UBL4A 8266 broad.mit.edu 37 X 153713787 153713787 + Missense_Mutation SNP C C T rs7057286 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:153713787C>T ENST00000369653.4 - 5 455 c.425G>A c.(424-426)cGt>cAt p.R142H UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369660.4_3'UTR P11441 UBL4A_HUMAN ubiquitin-like 4A 0 protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity endometrium(5)|lung(1)|urinary_tract(1) 7 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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) CCAGCTATGACGATGATGAGC 0.572000 6 231 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16024638 16024638 + Silent SNP C C T rs143714626 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:16024638C>T ENST00000402119.3 - 12 1905 c.1479G>A c.(1477-1479)ccG>ccA p.P493P CYP4F11_ENST00000326742.7_3'UTR|CYP4F11_ENST00000248041.7_Silent_p.P493P NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 493 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CAGTGTGGGTCGGCAGGATGC 0.627000 6 274 0 0 1 0 0 E2F3 1871 broad.mit.edu 37 6 20490464 20490464 + Missense_Mutation SNP G G T rs151305307 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:20490464G>T ENST00000346618.3 + 7 1267 c.1201G>T c.(1201-1203)Gcc>Tcc p.A401S E2F3_ENST00000535432.1_Missense_Mutation_p.A270S NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 401 Transactivation (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) TTCTCCTCTGGCCTCCCCAGC 0.463000 7 553 2.0095e-06 2.23434e-06 1 1 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 7 322 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179614657 179614657 + Missense_Mutation SNP G G C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:179614657G>C ENST00000360870.5 - 46 12692 c.12470C>G c.(12469-12471)cCa>cGa p.P4157R TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3502 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTTTTGGTGGTTCATTAGT 0.388000 10 385 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520323 33520323 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:33520323C>T ENST00000297307.5 - 1 1089 c.1004G>A c.(1003-1005)aGg>aAg p.R335K NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 335 integral to membrane p.R335K(4) CTCCTCCACCCTCCCTGTCCT 0.557000 8 472 0 0 1 0 0 SLC45A2 51151 broad.mit.edu 37 5 33947401 33947401 + Missense_Mutation SNP G G A rs149980670 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:33947401G>A ENST00000382102.3 - 6 1292 c.1235C>T c.(1234-1236)aCg>aTg p.T412M SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M|SLC45A2_ENST00000296589.4_Missense_Mutation_p.T412M NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 412 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane p.T412M(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 AATAAATCCCGTCCCCAGGCC 0.488000 39 901 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111705 57111705 + Silent SNP G G A rs2926746 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:57111705G>A ENST00000454682.1 - 3 3890 c.3609C>T c.(3607-3609)ccC>ccT p.P1203P NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 16 676 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 15 307 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 18 1281 0 0 1 0 0 TNFAIP8 25816 broad.mit.edu 37 5 118728611 118728611 + Missense_Mutation SNP C C A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:118728611C>A ENST00000504771.2 + 2 1909 c.132C>A c.(130-132)gaC>gaA p.D44E TNFAIP8_ENST00000504642.1_Missense_Mutation_p.D46E|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.D34E|TNFAIP8_ENST00000503646.1_Missense_Mutation_p.D44E|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.D56E NM_014350.2 NP_055165.2 O95379 TFIP8_HUMAN tumor necrosis factor, alpha-induced protein 8 44 anti-apoptosis|apoptosis|negative regulation of anti-apoptosis cytoplasm caspase inhibitor activity|protein binding p.D44D(1) ovary(1) 1 all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231) Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829) CCTTAATAGACGACACAAGTA 0.463000 3 96 0.115264 0.118239 1 1 0 ZNF708 7562 broad.mit.edu 37 19 21476519 21476519 + Missense_Mutation SNP T T C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:21476519T>C ENST00000356929.3 - 4 1446 c.1249A>G c.(1249-1251)Aag>Gag p.K417E NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 TAGGGTTTCTTTCCAGTATGA 0.343000 7 433 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116885 53116885 + Silent SNP A A G rs7247257 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:53116885A>G ENST00000597597.1 - 2 3186 c.933T>C c.(931-933)caT>caC p.H311H ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H P51522 ZNF83_HUMAN zinc finger protein 83 311 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TCTCTCCAGTATGAATTCTCC 0.418000 19 1118 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 11 648 0 0 1 0 0 LPAR3 23566 broad.mit.edu 37 1 85279808 85279808 + Silent SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:85279808G>A ENST00000440886.1 - 2 821 c.783C>T c.(781-783)ctC>ctT p.L261L LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Silent_p.L261L Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 261 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 TCAGGCCGTCGAGGAGCAGAA 0.582000 18 531 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40075752 40075752 + Missense_Mutation SNP C C G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:40075752C>G ENST00000336649.4 + 36 5438 c.5438C>G c.(5437-5439)tCt>tGt p.S1813C CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1772C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1772C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1807C|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S1807C|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1772C Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1807 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GACAGCGTCTCTTTAATCATC 0.632000 5 143 0 0 1 0 0 DHX58 79132 broad.mit.edu 37 17 40262918 40262918 + Silent SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:40262918G>A ENST00000251642.3 - 5 606 c.384C>T c.(382-384)atC>atT p.I128I NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 128 Helicase ATP-binding. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CATCCACCACGATCAGGGAGA 0.542000 25 794 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 6 352 0 0 1 0 0 POU3F2 5454 broad.mit.edu 37 6 99283224 99283224 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:99283224G>A ENST00000328345.5 + 1 645 c.475G>A c.(475-477)Gct>Act p.A159T NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 159 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(5) 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) GCACCACGCCGCTAACCACCA 0.682000 3 24 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 716059 716059 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:716059C>T ENST00000549091.1 + 36 4642 c.4550C>T c.(4549-4551)aCg>aTg p.T1517M WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000293879.4_Missense_Mutation_p.T1515M|WDR90_ENST00000315764.4_Missense_Mutation_p.T114M|WDR90_ENST00000547944.1_Missense_Mutation_p.T114M NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1515 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GTCTCCCGCACGGCCATGGAG 0.677000 14 622 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187475 12187475 + Missense_Mutation SNP C C G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:12187475C>G ENST00000439326.3 + 4 1715 c.1540C>G c.(1540-1542)Cat>Gat p.H514D ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H514D(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 AAAGCCTTCACATCTGCCTCA 0.408000 6 395 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75047332 75047332 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:75047332C>T ENST00000343932.4 + 7 1517 c.1454C>T c.(1453-1455)cCg>cTg p.P485L NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 485 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) AGCGTGCCGCCGGGCGTGAAA 0.617000 8 529 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 28 952 0 0 1 0 0 RGPD1 400966 broad.mit.edu 37 2 87140987 87140987 + Silent SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:87140987G>A ENST00000398193.3 + 1 53 c.15G>A c.(13-15)aaG>aaA p.K5K RGPD1_ENST00000409776.2_Intron Q68DN6 RGPD1_HUMAN RANBP2-like and GRIP domain containing 1 0 intracellular transport binding breast(1)|endometrium(1)|lung(1) 3 GGCGCAGCAAGGCCTACGGGG 0.672000 4 93 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23376993 23376993 + Missense_Mutation SNP C C G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:23376993C>G ENST00000400181.4 + 4 795 c.691C>G c.(691-693)Ctt>Gtt p.L231V KDM1A_ENST00000542151.1_Missense_Mutation_p.L231V|KDM1A_ENST00000356634.3_Missense_Mutation_p.L211V|RP1-184J9.2_ENST00000427154.1_RNA NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 211 SWIRM. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GAAGGTTTTTCTTTTCATTAG 0.383000 17 725 0 0 1 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24465897 24465897 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr13:24465897C>T ENST00000382137.3 - 3 601 c.533G>A c.(532-534)cGg>cAg p.R178Q C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R178Q|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 178 Collagen-like 3. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 TCTTATTCCCCGGACTCCTGG 0.587000 5 251 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158924700 158924700 + Missense_Mutation SNP G G C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:158924700G>C ENST00000367097.3 + 13 5362 c.4005G>C c.(4003-4005)aaG>aaC p.K1335N TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1335 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) AATTTGGAAAGAAGAACCGGA 0.537000 13 390 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72209576 72209576 + RNA SNP C C G rs147711959 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:72209576C>G ENST00000438125.1 - 0 579 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CTCGGAGCATCGACTATGACA 0.413000 6 443 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544724 23544724 + Missense_Mutation SNP T T C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:23544724T>C ENST00000300619.7 - 4 1262 c.1057A>G c.(1057-1059)Aaa>Gaa p.K353E ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 353 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K353E(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CCACATTCTTTACATTTGTAG 0.373000 8 503 0 0 1 0 0 AVPR1B 553 broad.mit.edu 37 1 206230924 206230924 + Missense_Mutation SNP C C A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:206230924C>A ENST00000367126.4 + 2 1522 c.1057C>A c.(1057-1059)Ctt>Att p.L353I NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 353 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CCTGCGTCACCTTGCCTGCTG 0.652000 4 117 0.00909568 0.00939099 1 1 0 ZNF681 148213 broad.mit.edu 37 19 23926861 23926861 + Silent SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:23926861C>T ENST00000402377.3 - 4 1632 c.1491G>A c.(1489-1491)aaG>aaA p.K497K ZNF681_ENST00000395385.3_Silent_p.K428K NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K497N(1)|p.K428N(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TATGAATTCTCTTATGTGTAG 0.358000 8 642 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000340850.5_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) 22 872 --- --- --- --- TNFRSF9 3604 broad.mit.edu 37 1 7998253 7998254 + Splice_Site INS - - T rs9657965 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:7998253_7998254insT ENST00000377507.3 - 4 511_512 c.346_splice c.e4+1 p.L116_splice NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 116 induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity p.G116S(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) GCAAACGTACCTTTTTTTGTCA 0.411 8 1296 --- --- --- --- CLSTN1 22883 broad.mit.edu 37 1 9790640 9790642 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:9790640_9790642delCCT ENST00000377298.4 - 19 3662_3664 c.2870_2872delAGG c.(2869-2874)ggg>g p.EG957del CLSTN1_ENST00000361311.4_In_Frame_Del_p.EG947del|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_In_Frame_Del_p.EG938del NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 957 Glu-rich (highly acidic). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CCCTGCTCCCCCTCCTCCTCCTC 0.645 9 714 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - rs7513079 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:12785494delG ENST00000332530.3 + 3 600 c.374delG c.(373-375)ttfs p.C125fs AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 195 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGCTACTGTTTTTTTCAA 0.458 16 1483 --- --- --- --- EPHA8 2046 broad.mit.edu 37 1 22927799 22927800 + Frame_Shift_Ins INS - - C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:22927799_22927800insC ENST00000166244.3 + 16 2808_2809 c.2736_2737insC c.(2734-2739)ccccccfs p.PP912fs NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 912 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCAGGTGCCCACCCCCTGCCTT 0.698 8 792 --- --- --- --- SNIP1 79753 broad.mit.edu 37 1 38003368 38003370 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:38003368_38003370delTCC ENST00000296215.6 - 4 1242_1244 c.1170_1172delGGA c.(1168-1173)gaa>ga p.EE390del NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 390 Poly-Glu. production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) AGACACTTCTTCCTCCTCCTCCT 0.448 12 1008 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 13 1240 --- --- --- --- ZMPSTE24 10269 broad.mit.edu 37 1 40756542 40756543 + Frame_Shift_Ins INS - - T rs137854889 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:40756542_40756543insT ENST00000372759.3 + 9 1241_1242 c.1076_1077insT c.(1075-1077)tttfs p.F359fs NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 359 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TCTTTCCTGTGTTTTTTTTTAT 0.332 15 459 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 10 881 --- --- --- --- MAST2 23139 broad.mit.edu 37 1 46494559 46494559 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:46494559delT ENST00000361297.2 + 18 2455 c.2172delT c.(2170-2172)ccfs p.P724fs MAST2_ENST00000372008.1_Frame_Shift_Del_p.P609fs|MAST2_ENST00000372009.2_Frame_Shift_Del_p.P654fs NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 724 Protein kinase. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GCTGCGTCCCTTTTTTTGGAG 0.552 11 2074 --- --- --- --- USP24 23358 broad.mit.edu 37 1 55603222 55603224 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:55603222_55603224delCTG ENST00000294383.6 - 28 3164_3166 c.3165_3167delCAG c.(3163-3168)agt>ag p.SS1055del USP24_ENST00000407756.1_In_Frame_Del_p.SS895del NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1055 Ser-rich. ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 AAAAACCCCACTGCTGCTGCTGC 0.448 7 270 --- --- --- --- ANKRD13C 81573 broad.mit.edu 37 1 70790592 70790592 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:70790592delT ENST00000370944.4 - 3 834 c.521delA c.(520-522)atfs p.N174fs ANKRD13C_ENST00000262346.6_Intron NM_030816.4 NP_110443.3 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 174 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 TCCCTGAGCATTTTTCACCTT 0.373 7 1051 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 9 315 --- --- --- --- LPAR3 23566 broad.mit.edu 37 1 85331664 85331665 + Frame_Shift_Ins INS - - A rs76299065 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:85331664_85331665insA ENST00000440886.1 - 1 177_178 c.139_140insT c.(139-141)taafs p.*47fs LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.*47fs 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 22 868 --- --- --- --- WDR63 126820 broad.mit.edu 37 1 85547084 85547084 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:85547084delA ENST00000294664.6 + 4 451 c.271delA c.(271-273)aafs p.K92fs WDR63_ENST00000326813.8_Frame_Shift_Del_p.K92fs|WDR63_ENST00000370596.1_Frame_Shift_Del_p.K92fs NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 92 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CCACCCAGTCAAAAAAATTGT 0.383 7 916 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85733513 85733513 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:85733513delA ENST00000370580.1 - 3 1236 c.499delT c.(499-501)ctfs p.S167fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 167 apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) GAATTAGTAGAAAAAAAGGGC 0.448 T IGH@ MALT 8 916 --- --- --- --- COL24A1 255631 broad.mit.edu 37 1 86283753 86283753 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:86283753delT ENST00000370571.2 - 46 4173 c.3807delA c.(3805-3807)aafs p.K1269fs COL24A1_ENST00000436319.1_Frame_Shift_Del_p.K1269fs NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1269 Collagen-like 14. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CAGGAGCTCCTTTTTTCCCCT 0.413 7 832 --- --- --- --- ODF2L 57489 broad.mit.edu 37 1 86826141 86826142 + Frame_Shift_Ins INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:86826141_86826142insT ENST00000359242.3 - 12 1502_1503 c.1221_1222insA c.(1219-1224)aaagaafs p.E408fs ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.E408fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.E248fs NM_001007022.2 NP_001007023.2 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like 408 centrosome p.K378fs*22(2) endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) AGGGTTTTCTGTTTTTTTTCTA 0.287 7 529 --- --- --- --- ZNF326 284695 broad.mit.edu 37 1 90470782 90470784 + In_Frame_Del DEL GTG GTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:90470782_90470784delGTG ENST00000340281.4 + 4 331_333 c.188_190delGTG c.(187-192)agt>a p.SG63del ZNF326_ENST00000361911.5_In_Frame_Del_p.SG63del|ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.2_In_Frame_Del_p.SG63del NM_182976.2 NP_892021.1 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 63 Gly-rich.|Mediates transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) GACAATCACAGTGGTGGTGGTGG 0.409 7 993 --- --- --- --- ZNF644 84146 broad.mit.edu 37 1 91405205 91405205 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:91405205delT ENST00000370440.1 - 3 1923 c.1706delA c.(1705-1707)agfs p.K569fs ZNF644_ENST00000337393.5_Frame_Shift_Del_p.K569fs|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CATGAAAGTCTTTTTTTGTGT 0.378 7 731 --- --- --- --- BRDT 676 broad.mit.edu 37 1 92447228 92447230 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del 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 12 731 --- --- --- --- AGL 178 broad.mit.edu 37 1 100378028 100378028 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:100378028delA ENST00000294724.4 + 29 4382 c.3904delA c.(3904-3906)aafs p.K1303fs AGL_ENST00000361522.4_Frame_Shift_Del_p.K1286fs|AGL_ENST00000370163.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000370165.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000361915.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000361302.3_Frame_Shift_Del_p.K1287fs|AGL_ENST00000370161.2_Frame_Shift_Del_p.K1287fs NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1303 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GGAATTATCCAAAAAAAATAT 0.323 7 677 --- --- --- --- HIAT1 64645 broad.mit.edu 37 1 100534122 100534122 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:100534122delT ENST00000370152.3 + 7 935 c.799delT c.(799-801)ttfs p.F268fs RP4-714D9.2_ENST00000432294.1_RNA NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 268 transmembrane transport integral to membrane|plasma membrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) ATATTCCAGCTTTTTTTTATA 0.388 10 927 --- --- --- --- CLCC1 23155 broad.mit.edu 37 1 109477407 109477407 + Frame_Shift_Del DEL T T - rs150759040 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:109477407delT ENST00000369971.2 - 11 1670 c.1541delA c.(1540-1542)agfs p.K514fs CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs 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 1264 --- --- --- --- CLCC1 23155 broad.mit.edu 37 1 109479802 109479803 + Frame_Shift_Del DEL TC TC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:109479802_109479803delTC ENST00000369971.2 - 10 1408_1409 c.1279_1280delGA c.(1279-1281)tfs p.D427fs CLCC1_ENST00000348264.2_Frame_Shift_Del_p.D242fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.D242fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.D306fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.D427fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.D306fs NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 427 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) CAAGTCAACATCTCTCTCTCTC 0.520 8 836 --- --- --- --- C1orf194 127003 broad.mit.edu 37 1 109649189 109649189 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:109649189delT ENST00000369949.4 - 4 550 c.371delA c.(370-372)agfs p.K124fs C1orf194_ENST00000369945.3_Frame_Shift_Del_p.K97fs|C1orf194_ENST00000369948.3_Frame_Shift_Del_p.K136fs NM_001122961.1 NP_001116433.1 Q5T5A4 CA194_HUMAN chromosome 1 open reading frame 194 136 large_intestine(2)|lung(2)|ovary(2) 6 GATGGACTCCTTTTTAGGGTT 0.483 7 1863 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:115537600_115537601insA ENST00000369522.3 + 32 3131_3132 c.2891_2892insA c.(2890-2892)aaafs p.K964fs SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs|SYCP1_ENST00000477590.1_3'UTR NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAATGGATAGAAAAAAAAAAC 0.356 39 421 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 10 444 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 9 87 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 63 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 9 677 --- --- --- --- POLR3GL 84265 broad.mit.edu 37 1 145457040 145457042 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:145457040_145457042delTCT ENST00000369314.1 - 7 625_627 c.519_521delAGA c.(517-522)gag>ga p.EE173del POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 173 Glu-rich. endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ctcttccttctcttcttcttctt 0.448 7 151 --- --- --- --- MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:150551492_150551494delTCC ENST00000369026.2 - 1 572_574 c.513_515delGGA c.(511-516)gac>ga p.ED171del MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-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) GTACAACTCGTCCTCCTCCTCCT 0.635 9 699 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151774033 151774033 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:151774033delG ENST00000368820.3 - 2 2085 c.1148delC c.(1147-1149)ctfs p.P383fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 383 LRRCT. integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AGCACAGGCAGGGGGGGACAT 0.632 7 475 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152083818 152083820 + In_Frame_Del DEL CGG CGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:152083818_152083820delCGG ENST00000368804.1 - 2 1872_1874 c.1873_1875delCCG c.(1873-1875)del p.P625del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 625 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCTTCCTCCGGCTCCTCGCGC 0.680 8 786 --- --- --- --- SLC27A3 11000 broad.mit.edu 37 1 153751860 153751860 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:153751860delC ENST00000271857.2 + 9 2930 c.2170delC c.(2170-2172)ccfs p.P725fs SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Frame_Shift_Del_p.P644fs Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 644 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGTTCTGCGTCCCCCCCACGC 0.617 7 818 --- --- --- --- FLAD1 80308 broad.mit.edu 37 1 154962050 154962050 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:154962050delA ENST00000368433.1 + 3 1475 c.1132delA c.(1132-1134)aafs p.K379fs FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000315144.10_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000292180.3_Frame_Shift_Del_p.K379fs|FLAD1_ENST00000368432.1_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000368428.1_5'UTR Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 379 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity p.K378E(3) endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTCTTTGGGGAAAAAGGTGGC 0.567 11 1067 --- --- --- --- NES 10763 broad.mit.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:156642804delG ENST00000368223.3 - 4 1308 c.1176delC c.(1174-1176)ccfs p.P392fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 392 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTGAGGTGTGGGGGGGATGG 0.597 16 1764 --- --- --- --- PRCC 5546 broad.mit.edu 37 1 156761535 156761536 + Frame_Shift_Ins INS - - C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:156761535_156761536insC ENST00000271526.4 + 4 1402_1403 c.1130_1131insC c.(1129-1131)gccfs p.A377fs PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 377 cell cycle|mitotic cell cycle checkpoint nucleus protein binding p.Q380fs*12(1) PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCGGCCCTGGTCCCCCCCCAGG 0.530 T TFE3 papillary renal 18 835 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161059028 161059030 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:161059028_161059030delAGC ENST00000368012.3 - 1 359_361 c.57_59delGCT c.(55-60)cta>ct p.LL21del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 21 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGCCAGCAGTAGCAGCAGCAGCA 0.567 7 1118 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcg>gc p.AE30del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 12 871 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 15 462 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176762724 176762724 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:176762724delC ENST00000367662.3 + 20 6213 c.5049delC c.(5047-5049)atfs p.I1683fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTGTGTAATCCCCCCCAGTG 0.468 14 1007 --- --- --- --- GPR25 2848 broad.mit.edu 37 1 200842776 200842778 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:200842776_200842778delTGC ENST00000304244.2 + 1 694_696 c.611_613delTGC c.(610-615)ttg>t p.LL208del NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 208 Poly-Leu. integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 GGCCTCAGCTTGCTGCTGCTGCT 0.724 19 205 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 21 776 --- --- --- --- SYT2 127833 broad.mit.edu 37 1 202573647 202573649 + In_Frame_Del DEL TTC TTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:202573647_202573649delTTC ENST00000367267.1 - 3 471_473 c.279_281delGAA c.(277-282)aac>aa p.KN93del RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 93 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity p.N94S(1) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) ctccttcttgttcttcttcttct 0.532 7 833 --- --- --- --- PPP1R15B 84919 broad.mit.edu 37 1 204380466 204380466 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:204380466delA ENST00000367188.4 - 1 453 c.74delT c.(73-75)tcfs p.F25fs RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 25 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) TCGCCGAGGGAAAAAGGGTGG 0.622 8 895 --- --- --- --- CR2 1380 broad.mit.edu 37 1 207642044 207642044 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:207642044delC ENST00000367057.3 + 3 807 c.618delC c.(616-618)gtfs p.V206fs CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs|CR2_ENST00000367058.3_Frame_Shift_Del_p.V206fs NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 206 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.T209fs*10(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GGAGTGCTGTCCCCCCCACAT 0.398 9 1326 --- --- --- --- CR1L 1379 broad.mit.edu 37 1 207867814 207867814 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:207867814delA ENST00000508064.2 + 5 640 c.580delA c.(580-582)aafs p.K195fs CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 195 Sushi 3. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AAGCAGAGGGAAAAAGGTGTT 0.507 7 1634 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del 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 13 1373 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 32 516 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214588042 214588042 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:214588042delT ENST00000366956.5 - 4 566 c.372delA c.(370-372)aafs p.K124fs PTPN14_ENST00000543945.1_Frame_Shift_Del_p.K124fs NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 124 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CAAGCACATCTTTTTTGACTT 0.423 9 1428 --- --- --- --- ACBD3 64746 broad.mit.edu 37 1 226352490 226352491 + Splice_Site INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:226352490_226352491insT ENST00000366812.5 - 3 622_623 c.569_splice c.e3+1 p.E190_splice NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 190 Glu-rich. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) CAAACTTCACCTTTTTTTTTCT 0.411 9 613 --- --- --- --- RP11-156E8.1 0 broad.mit.edu 37 1 245134087 245134087 + Frame_Shift_Del DEL C C - rs3835139 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:245134087delC ENST00000607453.1 - 1 303 c.290delG c.(289-291)gafs p.G97fs EFCAB2_ENST00000487845.1_Intron|EFCAB2_ENST00000447569.2_Intron|EFCAB2_ENST00000366523.1_Intron|EFCAB2_ENST00000366522.2_Intron cgtcctccttccccctccctc 0.692 2 4 --- --- --- --- MYCN 4613 broad.mit.edu 37 2 16086094 16086094 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:16086094delA ENST00000281043.3 + 3 1567 c.1270delA c.(1270-1272)aafs p.K425fs NM_005378.4 NP_005369.2 P04198 MYCN_HUMAN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 425 Helix-loop-helix motif. regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) GGTCATTTTGAAAAAGGCCAC 0.547 A neuroblastoma 7 1525 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 9 311 --- --- --- --- APOB 338 broad.mit.edu 37 2 21228602 21228602 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:21228602delT ENST00000233242.1 - 26 11265 c.11138delA c.(11137-11139)acfs p.N3713fs NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3713 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCCATTGGGGTTTTTGGTGTA 0.398 8 1001 --- --- --- --- KIF3C 3797 broad.mit.edu 37 2 26203464 26203466 + In_Frame_Del DEL GTT GTT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:26203464_26203466delGTT ENST00000264712.3 - 1 1900_1902 c.1321_1323delAAC c.(1321-1323)del p.N441del KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 441 Poly-Asn. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGGGCGGTGGTTGTTGTTGTTG 0.621 8 1198 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 17 629 --- --- --- --- LRPPRC 10128 broad.mit.edu 37 2 44145165 44145165 + Splice_Site DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:44145165delT ENST00000260665.7 - 29 3204 c.3148_splice c.e29+1 p.K1049_splice NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 1049 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGTGCTTGCCTTTTTTTTGGT 0.453 8 219 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 15 603 --- --- --- --- GMCL1 64395 broad.mit.edu 37 2 70074753 70074753 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:70074753delA ENST00000282570.3 + 7 1088 c.837delA c.(835-837)ctfs p.L279fs NM_178439.3 NP_848526.1 Q96IK5 GMCL1_HUMAN germ cell-less, spermatogenesis associated 1 279 cell differentiation|multicellular organismal development|spermatogenesis nuclear matrix endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 15 ACACTGCTCTAAAAAAGGTAC 0.348 7 1441 --- --- --- --- ATP6V1B1 525 broad.mit.edu 37 2 71191572 71191573 + Frame_Shift_Ins INS - - C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:71191572_71191573insC ENST00000234396.4 + 12 1221_1222 c.1148_1149insC c.(1147-1149)tccfs p.S383fs AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 383 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 CCTCAGATCTACCCCCCCATCA 0.545 OREG0014686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 772 --- --- --- --- RAB11FIP5 26056 broad.mit.edu 37 2 73315337 73315339 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:73315337_73315339delTGG ENST00000258098.6 - 3 1647_1649 c.1407_1409delCCA c.(1405-1410)caa>ca p.HQ469del RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 469 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 ACTTAGGCCTTGGTGGTGGTGGT 0.635 8 1331 --- --- --- --- SLC4A5 57835 broad.mit.edu 37 2 74451994 74451994 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:74451994delT ENST00000394019.2 - 28 3616 c.3219delA c.(3217-3219)aafs p.K1073fs SLC4A5_ENST00000358683.4_Frame_Shift_Del_p.K971fs|SLC4A5_ENST00000346834.4_Frame_Shift_Del_p.K992fs|SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Frame_Shift_Del_p.K992fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000357822.5_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000359484.4_Frame_Shift_Del_p.K971fs NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1089 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CGTGGGCCCCTTTTTTTCTCT 0.517 9 1374 --- --- --- --- TGOLN2 10618 broad.mit.edu 37 2 85554579 85554579 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:85554579delT ENST00000377386.3 - 2 738 c.276delA c.(274-276)aafs p.K92fs TGOLN2_ENST00000409015.1_Frame_Shift_Del_p.K92fs|TGOLN2_ENST00000398263.2_Frame_Shift_Del_p.K92fs|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Frame_Shift_Del_p.K92fs|TGOLN2_ENST00000409232.3_Frame_Shift_Del_p.K92fs O43493 TGON2_HUMAN trans-golgi network protein 2 92 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding TGGAGCTGTCTTTTTGGGTCT 0.572 12 3912 --- --- --- --- ZNF514 84874 broad.mit.edu 37 2 95815034 95815035 + Frame_Shift_Ins INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:95815034_95815035insT ENST00000295208.2 - 5 1657_1658 c.1195_1196insA c.(1195-1197)cctfs p.P399fs MRPS5_ENST00000475040.1_5'UTR|ZNF514_ENST00000411425.1_Frame_Shift_Ins_p.P399fs NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 AATTTATAGGGTTTTTTTTCCA 0.396 9 1001 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 14 1959 --- --- --- --- EIF5B 9669 broad.mit.edu 37 2 99977775 99977777 + In_Frame_Del DEL TGA TGA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:99977775_99977777delTGA ENST00000289371.5 + 4 613_615 c.411_413delTGA c.(409-414)agt>ag p.SD137del NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 137 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ACTCTGGGAGTGATGATGATGAT 0.345 7 656 --- --- --- --- REV1 51455 broad.mit.edu 37 2 100055102 100055102 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:100055102delT ENST00000258428.3 - 6 1402 c.1174delA c.(1174-1176)tgfs p.M392fs REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Frame_Shift_Del_p.M392fs NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 392 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTGTTTTCATTTTTTTTAAC 0.348 Direct reversal of damage 11 893 --- --- --- --- NPHP1 4867 broad.mit.edu 37 2 110922711 110922713 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:110922711_110922713delCTT ENST00000316534.4 - 7 717_719 c.644_646delAAG c.(643-648)ggc>g p.EG215del NPHP1_ENST00000445609.2_In_Frame_Del_p.EG215del|NPHP1_ENST00000417665.1_In_Frame_Del_p.EG215del|NPHP1_ENST00000393272.3_In_Frame_Del_p.EG215del|NPHP1_ENST00000355301.4_In_Frame_Del_p.EG153del O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 215 Glu-rich. actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 GACTCTTGGCCTTCTTCTTCTTC 0.404 8 1070 --- --- --- --- RGPD8 727851 broad.mit.edu 37 2 113181886 113181887 + Splice_Site INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:113181886_113181887insA ENST00000302558.3 - 2 264 c.e2-2 RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 CATTGACTTCTAAAAAAAAATT 0.252 9 365 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 12 630 --- --- --- --- CCDC74A 90557 broad.mit.edu 37 2 132290249 132290249 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:132290249delC ENST00000295171.6 + 5 909 c.771delC c.(769-771)cafs p.H257fs CCDC74A_ENST00000409856.3_Frame_Shift_Del_p.H191fs|CCDC74A_ENST00000467992.2_3'UTR NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 257 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 CGGGGGCACACCCCCCAATGA 0.602 7 1297 --- --- --- --- ERMN 57471 broad.mit.edu 37 2 158178062 158178064 + In_Frame_Del DEL ATC ATC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:158178062_158178064delATC ENST00000410096.1 - 3 865_867 c.574_576delGAT c.(574-576)del p.D192del ERMN_ENST00000535935.1_In_Frame_Del_p.D86del|ERMN_ENST00000397283.2_In_Frame_Del_p.D205del|ERMN_ENST00000420719.2_In_Frame_Del_p.D172del NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 192 Poly-Asp. cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 tattgcaattatcatcatcatca 0.365 8 900 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168104998 168105000 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:168104998_168105000delCCT ENST00000409195.1 + 9 7185_7187 c.7096_7098delCCT c.(7096-7098)del p.P2370del XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2195 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTTTCTGCCGCCTCCTCCTCCTC 0.468 7 988 --- --- --- --- SSB 6741 broad.mit.edu 37 2 170665008 170665008 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:170665008delA ENST00000409333.1 + 7 818 c.571delA c.(571-573)aafs p.K192fs SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 192 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TTACTTTGCCAAAAAAAATGA 0.323 8 554 --- --- --- --- MYO3B 140469 broad.mit.edu 37 2 171240258 171240259 + Frame_Shift_Ins INS - - C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:171240258_171240259insC ENST00000334231.6 + 12 1251_1252 c.1251_1252insC c.(1249-1254)aaccccfs p.NP417fs MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs Q8WXR4 MYO3B_HUMAN myosin IIIB 408 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCGCCTCCAATCCCCCCCACAT 0.465 9 776 --- --- --- --- CYP20A1 57404 broad.mit.edu 37 2 204150380 204150380 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:204150380delA ENST00000356079.4 + 9 1019 c.896delA c.(895-897)cafs p.Q299fs CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 299 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 GAAGAAGTTCAAAAAAAATTA 0.348 7 620 --- --- --- --- ZDBF2 57683 broad.mit.edu 37 2 207174869 207174869 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:207174869delA ENST00000374423.3 + 5 6003 c.5617delA c.(5617-5619)aafs p.K1875fs NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1875 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTCGAAGGGGAAAAAAAAGGT 0.413 9 282 --- --- --- --- KANSL1L 151050 broad.mit.edu 37 2 210887680 210887680 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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 10 271 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220502413 220502413 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:220502413delC ENST00000358055.3 + 17 3158 c.2646delC c.(2644-2646)ggfs p.G882fs SLC4A3_ENST00000373762.3_Frame_Shift_Del_p.G909fs|SLC4A3_ENST00000317151.3_Frame_Shift_Del_p.G882fs|SLC4A3_ENST00000273063.6_Frame_Shift_Del_p.G909fs|SLC4A3_ENST00000373760.2_Frame_Shift_Del_p.G882fs P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 882 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCACCGAGGGCCCCCCCAGCC 0.642 7 550 --- --- --- --- COL4A4 1286 broad.mit.edu 37 2 227979396 227979396 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:227979396delT ENST00000396625.3 - 8 713 c.506delA c.(505-507)agfs p.K169fs COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K169fs NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 169 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) TTTTTCTCCCTTTTCCCCAGG 0.299 7 952 --- --- --- --- GIGYF2 26058 broad.mit.edu 37 2 233620985 233620987 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:233620985_233620987delGAG ENST00000373566.3 + 6 517_519 c.320_322delGAG c.(319-324)cga>c p.RG107del GIGYF2_ENST00000409547.1_In_Frame_Del_p.RG107del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.RG107del Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 107 Poly-Gly. cell death protein binding p.G108R(2) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TTGACAGGACGAGGAGGAGGAGG 0.424 11 618 --- --- --- --- SRGAP3 9901 broad.mit.edu 37 3 9027284 9027286 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:9027284_9027286delGCT ENST00000383836.3 - 22 3644_3646 c.3217_3219delAGC c.(3217-3219)del p.S1074del SRGAP3_ENST00000360413.3_In_Frame_Del_p.S1050del NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 1074 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CCACGCCCGAGCTGCTGCTGCTG 0.739 T RAF1 pilocytic astrocytoma 9 314 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000435575.1_Intron NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 10 1257 --- --- --- --- SGOL1 151648 broad.mit.edu 37 3 20216050 20216050 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:20216050delT ENST00000412997.1 - 6 1324 c.973delA c.(973-975)tgfs p.M325fs SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000421451.1_Frame_Shift_Del_p.M325fs|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000263753.4_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000412868.1_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000442720.1_Intron NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 325 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 GATTTGTGCATTTTTTTTTGG 0.318 8 299 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:33602361delT ENST00000399362.4 - 28 3243 c.2890delA c.(2890-2892)tgfs p.M964fs CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 966 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCAGCACCCATTTTTTTTAGT 0.343 19 999 --- --- --- --- PDCD6IP 10015 broad.mit.edu 37 3 33866811 33866811 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:33866811delT ENST00000307296.3 + 5 972 c.595delT c.(595-597)ttfs p.F200fs PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 200 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TCAAGAAGTATTTTTTTTAAA 0.368 7 760 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42680269 42680271 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:42680269_42680271delGAG ENST00000232978.8 + 13 3261_3263 c.3073_3075delGAG c.(3073-3075)del p.E1029del RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1029 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) ATTTGGTGAAGAGGAGGAGGAGG 0.355 8 678 --- --- --- --- HHATL 57467 broad.mit.edu 37 3 42739670 42739672 + In_Frame_Del DEL GAA GAA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:42739670_42739672delGAA ENST00000441594.1 - 6 916_918 c.655_657delTTC c.(655-657)del p.F219del HHATL_ENST00000310417.5_In_Frame_Del_p.F219del NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 219 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) TGATGGGCCCGAAGAAGAAGAAG 0.552 10 847 --- --- --- --- CCR3 1232 broad.mit.edu 37 3 46306948 46306948 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:46306948delT ENST00000357422.2 + 4 842 c.299delT c.(298-300)gtfs p.V100fs CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 100 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CATAACTGGGTTTTTGGCCAT 0.488 10 2127 --- --- --- --- CCR3 1232 broad.mit.edu 37 3 46307343 46307343 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:46307343delA ENST00000357422.2 + 4 1237 c.694delA c.(694-696)aafs p.K234fs CCR3_ENST00000395940.2_Frame_Shift_Del_p.K234fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.K255fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.K234fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.K234fs P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 234 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) GTGCCCCAGTAAAAAAAAGTA 0.468 10 463 --- --- --- --- SETD2 29072 broad.mit.edu 37 3 47103755 47103756 + Frame_Shift_Del DEL TC TC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:47103755_47103756delTC ENST00000409792.3 - 14 6232_6233 c.6190_6191delGA c.(6190-6192)cfs p.D2064fs SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2064 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CTTGTCTGGGTCTCTCTCTCTT 0.485 """N, F, S, Mis""" clear cell renal carcinoma 7 2173 --- --- --- --- USP4 7375 broad.mit.edu 37 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:49321969_49321971delTCT ENST00000351842.4 - 17 2185_2187 c.2177_2179delAGA c.(2176-2181)acc>a p.KT726del USP4_ENST00000265560.4_In_Frame_Del_p.KT773del NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 773 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GCCACTGTGGTCTTCTTCTTCTT 0.532 13 948 --- --- --- --- TCTA 6988 broad.mit.edu 37 3 49449979 49449981 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:49449979_49449981delGCT ENST00000273590.3 + 1 341_343 c.120_122delGCT c.(118-123)aag>aa p.KL40del RHOA_ENST00000265538.3_5'UTR|TCTA_ENST00000493381.1_3'UTR NM_022171.2 NP_071503.1 P57738 TCTA_HUMAN T-cell leukemia translocation altered 40 integral to membrane large_intestine(4)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCTCTTCAAGCTGCTGCTGCTG 0.645 7 1213 --- --- --- --- DAG1 1605 broad.mit.edu 37 3 49569266 49569268 + In_Frame_Del DEL CCA CCA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:49569266_49569268delCCA ENST00000545947.1 + 6 2044_2046 c.1322_1324delCCA c.(1321-1326)tcc>t p.ST441del DAG1_ENST00000538711.1_In_Frame_Del_p.ST441del|DAG1_ENST00000515359.2_In_Frame_Del_p.ST441del|DAG1_ENST00000541308.1_In_Frame_Del_p.ST441del|DAG1_ENST00000308775.2_In_Frame_Del_p.ST441del|DAG1_ENST00000539901.1_In_Frame_Del_p.ST441del NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 441 Mucin-like domain.|Thr-rich. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TCAACTGACTCCACCACCACCAC 0.581 9 694 --- --- --- --- RASSF1 11186 broad.mit.edu 37 3 50368093 50368095 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:50368093_50368095delCTC ENST00000359365.4 - 6 1046_1048 c.940_942delGAG c.(940-942)del p.E314del RASSF1_ENST00000395126.3_In_Frame_Del_p.E163del|RASSF1_ENST00000357043.2_In_Frame_Del_p.E318del|RASSF1_ENST00000327761.3_In_Frame_Del_p.E244del NM_001206957.1|NM_007182.4|NM_170714.1 NP_001193886.1|NP_009113.3|NP_733832.1 Q9NS23 RASF1_HUMAN Ras association (RalGDS/AF-6) domain family member 1 318 SARAH. cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGCGGAGGTGCTCCTCCTCCTCC 0.591 8 713 --- --- --- --- RBM15B 29890 broad.mit.edu 37 3 51430822 51430824 + In_Frame_Del DEL CCA CCA - rs147738916 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:51430822_51430824delCCA ENST00000323686.4 + 1 2092_2094 c.1992_1994delCCA c.(1990-1995)ggc>gg p.GH664del NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 664 His-rich. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGAACGGGGCCACCACCACCAC 0.635 7 264 --- --- --- --- TWF2 11344 broad.mit.edu 37 3 52265509 52265509 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:52265509delT ENST00000305533.5 - 4 572 c.329delA c.(328-330)agfs p.K110fs TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Frame_Shift_Del_p.K110fs NM_007284.3 NP_009215.1 twinfilin actin-binding protein 2 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TCCAAACTCCTTTTTCACTGT 0.602 OREG0015610 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 1655 --- --- --- --- PDE12 201626 broad.mit.edu 37 3 57542768 57542770 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:57542768_57542770delCTT ENST00000311180.8 + 1 765_767 c.662_664delCTT c.(661-666)cct>c p.PS221del PDE12_ENST00000487257.1_In_Frame_Del_p.PS221del NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 221 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) CCCTCCTCACCTTCTTCTTCTTG 0.616 11 1438 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 23 628 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 10 2441 --- --- --- --- FAM86DP 0 broad.mit.edu 37 3 75480040 75480041 + RNA DEL CA CA - rs60069480 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:75480040_75480041delCA ENST00000459803.1 - 0 218_219 NR_024241.1 GCGGGTGCTTCACACACACACA 0.530 7 417 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 26 359 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 12 150 --- --- --- --- CPOX 1371 broad.mit.edu 37 3 98311987 98311989 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:98311987_98311989delTCC ENST00000264193.2 - 1 578_580 c.360_362delGGA c.(358-363)gat>ga p.ED120del NM_000097.5 NP_000088.3 P36551 HEM6_HUMAN coproporphyrinogen oxidase 120 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 GGCCAGCTCATCCTCCTCCTCCT 0.695 7 233 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 23 1975 --- --- --- --- DPPA4 55211 broad.mit.edu 37 3 109049606 109049606 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:109049606delT ENST00000335658.6 - 5 498 c.444delA c.(442-444)aafs p.K148fs DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 148 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CCACCTTTAATTTTTTTTGCA 0.413 9 854 --- --- --- --- NME9 347736 broad.mit.edu 37 3 138023752 138023752 + Frame_Shift_Del DEL G G - rs80092642 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:138023752delG ENST00000383180.2 - 10 808 c.571delC c.(571-573)gtfs p.R191fs NME9_ENST00000536478.1_Frame_Shift_Del_p.R191fs|NME9_ENST00000484930.1_Frame_Shift_Del_p.R189fs|NME9_ENST00000317876.4_Frame_Shift_Del_p.R191fs|NME9_ENST00000333911.3_Frame_Shift_Del_p.R252fs|NME9_ENST00000341790.5_Frame_Shift_Del_p.R189fs NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 252 NDK. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity TTGGGGTCACGGGGGCCCATG 0.587 7 1237 --- --- --- --- PLOD2 5352 broad.mit.edu 37 3 145795694 145795694 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:145795694delT ENST00000282903.5 - 14 1695 c.1518delA c.(1516-1518)aafs p.K506fs PLOD2_ENST00000461497.1_Frame_Shift_Del_p.K166fs|PLOD2_ENST00000494950.1_Frame_Shift_Del_p.K451fs|PLOD2_ENST00000360060.3_Intron|RP11-274H2.2_ENST00000480247.1_RNA NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 500 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TAGGGGAGTCTTTTTCCCTTT 0.338 8 1724 --- --- --- --- CP 1356 broad.mit.edu 37 3 148903053 148903053 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:148903053delT ENST00000264613.6 - 12 2520 c.2258delA c.(2257-2259)agfs p.K753fs CP_ENST00000462336.1_5'UTR NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 753 F5/8 type A 3.|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) ATGCAGCTCCTTTTCCCACTC 0.443 7 2150 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:149260194_149260196delCTG ENST00000465804.1 - 5 953_955 c.697_699delCAG c.(697-699)del p.Q233del WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 233 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCGCAGTTTCTGCTGCTGCTGC 0.581 T CAMTA1 epitheliod hemangioendothelioma 9 542 --- --- --- --- FAM194A 131831 broad.mit.edu 37 3 150421591 150421593 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:150421591_150421593delTCC ENST00000295910.6 - 1 145_147 c.93_95delGGA c.(91-96)gaa>ga p.EE31del FAM194A_ENST00000491361.1_5'UTR|RP11-103G8.2_ENST00000471093.1_RNA NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 31 Glu-rich. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ctccacctcttcctcctcctcct 0.635 9 190 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151112598 151112600 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:151112598_151112600delGCA ENST00000474524.1 + 37 5696_5698 c.5658_5660delGCA c.(5656-5661)ctg>ct p.LQ1886del MED12L_ENST00000273432.4_In_Frame_Del_p.LQ1746del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1886 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGAAGCTTCTGCAGCAGCAGCAG 0.532 7 816 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167747642 167747644 + In_Frame_Del DEL CTG CTG - rs61743912 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:167747642_167747644delCTG ENST00000470487.1 - 10 2046_2048 c.1357_1359delCAG c.(1357-1359)del p.Q453del GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 453 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTGCCACctgctgctgctgc 0.640 10 332 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186370137 186370137 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:186370137delC ENST00000265029.3 + 7 967 c.866delC c.(865-867)acfs p.T289fs FETUB_ENST00000450521.1_Frame_Shift_Del_p.T289fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.T224fs|FETUB_ENST00000539949.1_Frame_Shift_Del_p.T141fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.T252fs|RP11-134F2.2_ENST00000428501.1_RNA NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 289 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAGAAAAACACCCCCCCAACA 0.498 7 1600 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194181471 194181473 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:194181471_194181473delGAG ENST00000439040.1 - 4 930_932 c.139_141delCTC c.(139-141)del p.L47del ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del Q9H7F0 AT133_HUMAN ATPase type 13A3 47 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCATCCAATAGAGGAGGAGGAGG 0.463 8 1072 --- --- --- --- ZNF876P 0 broad.mit.edu 37 4 217874 217874 + RNA DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:217874delG ENST00000356347.3 + 0 172 NR_027481.1 ggctgcttcagggagcacagc 0.537 7 248 --- --- --- --- PDE6B 5158 broad.mit.edu 37 4 661763 661765 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:661763_661765delAGG ENST00000255622.6 + 21 2514_2516 c.2471_2473delAGG c.(2470-2475)aag>a p.KE824del PDE6B_ENST00000429163.2_In_Frame_Del_p.KE545del|PDE6B_ENST00000496514.1_In_Frame_Del_p.KE824del NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 824 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTGGAGGAGAAGGAGGAGGAGGA 0.562 17 1058 --- --- --- --- RGS12 6002 broad.mit.edu 37 4 3430398 3430399 + Frame_Shift_Ins INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:3430398_3430399insA ENST00000336727.3 + 16 4429_4430 c.3525_3526insA c.(3523-3528)ggaaaafs p.GK1175fs RGS12_ENST00000538395.1_Intron|RGS12_ENST00000382788.3_Frame_Shift_Ins_p.GK1175fs|RGS12_ENST00000344733.5_Frame_Shift_Ins_p.GK1175fs|RGS12_ENST00000338806.4_Frame_Shift_Ins_p.GK527fs|RGS12_ENST00000306648.7_Intron NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1175 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAAAGATTGGGAAAAAAAAATA 0.332 15 503 --- --- --- --- HGFAC 3083 broad.mit.edu 37 4 3443798 3443800 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:3443798_3443800delCTG ENST00000382774.3 + 1 185_187 c.70_72delCTG c.(70-72)del p.L29del HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 29 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTCCTCCTCCTGCTGCTGCTGC 0.714 7 288 --- --- --- --- PI4K2B 55300 broad.mit.edu 37 4 25278792 25278792 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:25278792delT ENST00000264864.6 + 10 1618 c.1429delT c.(1429-1431)ttfs p.F478fs PI4K2B_ENST00000512921.1_Frame_Shift_Del_p.F382fs NM_018323.3 NP_060793.2 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 478 cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3) 15 Breast(46;0.173) CAGGAAGCCATTTTTTTCCTC 0.393 7 712 --- --- --- --- UGDH 7358 broad.mit.edu 37 4 39515752 39515753 + Frame_Shift_Ins INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:39515752_39515753insA ENST00000316423.6 - 3 556_557 c.214_215insT c.(214-216)tacfs p.Y72fs UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000515398.1_5'UTR NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 72 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity p.S72fs*18(1) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) AATATTGGTAGAAAAAAAAAGA 0.297 22 946 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 13 610 --- --- --- --- YTHDC1 91746 broad.mit.edu 37 4 69202891 69202893 + In_Frame_Del DEL TCC TCC - rs141105019 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:69202891_69202893delTCC ENST00000344157.4 - 4 1070_1072 c.735_737delGGA c.(733-738)gaa>ga p.EE247del YTHDC1_ENST00000355665.3_In_Frame_Del_p.EE247del|YTHDC1_ENST00000579690.1_In_Frame_Del_p.EE247del NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 247 Glu-rich. p.E245E(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 ttcttcttcttcctcctcctcct 0.473 7 409 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 14 376 --- --- --- --- MOB1B 92597 broad.mit.edu 37 4 71844995 71844995 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:71844995delT ENST00000309395.2 + 5 761 c.560delT c.(559-561)atfs p.I187fs MOB1B_ENST00000396051.2_Frame_Shift_Del_p.I192fs|MOB1B_ENST00000511449.1_Intron NM_001244766.1|NM_173468.3 NP_001231695.1|NP_775739.1 Q7L9L4 MOL1A_HUMAN MOB kinase activator 1B 187 hippo signaling cascade|protein autophosphorylation cytoplasm|nucleus kinase activator activity|kinase binding|metal ion binding AAGCACTTTATTTTTTTTGTC 0.398 10 893 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 377 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83745800 83745800 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:83745800delT ENST00000432794.1 - 26 3521 c.3358delA c.(3358-3360)ttfs p.I1120fs SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 1107 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) TTCTTGGTAATTTTTTTTGTT 0.388 8 398 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412094 105412096 + In_Frame_Del DEL GAG GAG - rs146939312 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:105412094_105412096delGAG ENST00000394767.2 - 2 1314_1316 c.864_866delCTC c.(862-867)tcg>tc p.SS290del AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000426831.1_In_Frame_Del_p.SS121del|CXXC4_ENST00000466963.1_Intron NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 121 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding p.S120A(1) kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGAGGAGGACGAGGAGGAGGAGG 0.606 10 662 --- --- --- --- TET2 54790 broad.mit.edu 37 4 106156289 106156291 + In_Frame_Del DEL CAC CAC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:106156289_106156291delCAC ENST00000513237.1 + 3 2050_2052 c.1253_1255delCAC c.(1252-1257)aca>a p.TP418del TET2_ENST00000394764.1_In_Frame_Del_p.TP397del|TET2_ENST00000413648.2_In_Frame_Del_p.TP397del|TET2_ENST00000540549.1_In_Frame_Del_p.TP397del|TET2_ENST00000545826.1_In_Frame_Del_p.TP397del|TET2_ENST00000305737.2_In_Frame_Del_p.TP397del|TET2_ENST00000380013.4_In_Frame_Del_p.TP397del Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 397 Pro-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) GCCACTACCACACCACCACCACC 0.453 """Mis N, F""" MDS 7 1220 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 11 663 --- --- --- --- SEC24B 10427 broad.mit.edu 37 4 110402913 110402915 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:110402913_110402915delGAG ENST00000265175.5 + 4 1196_1198 c.1141_1143delGAG c.(1141-1143)del p.E384del SEC24B_ENST00000399100.2_Intron|SEC24B_ENST00000504968.2_In_Frame_Del_p.E415del NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 384 Poly-Glu. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding p.E381delE(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TGATgaggaagaggaggaggagg 0.443 8 1154 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000492454.1_3'UTR NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 12 580 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128564917 128564917 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:128564917delA ENST00000335251.5 + 2 491 c.388delA c.(388-390)aafs p.K131fs INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 131 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 GCGCTGCAATAAAAAAAATAG 0.358 12 504 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128608872 128608872 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:128608872delT ENST00000335251.5 + 8 1402 c.1299delT c.(1297-1299)cafs p.H433fs NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 433 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 GTTTGGATCATTTTTTTAACT 0.433 8 975 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 9 413 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 24 735 --- --- --- --- ZNF827 152485 broad.mit.edu 37 4 146823381 146823383 + In_Frame_Del DEL GTG GTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:146823381_146823383delGTG ENST00000508784.1 - 2 1255_1257 c.1028_1030delCAC c.(1027-1032)caa>c p.PQ343del ZNF827_ENST00000379448.4_In_Frame_Del_p.PQ343del|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 343 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TCCAGGGATTgtggtggtggtgg 0.512 7 355 --- --- --- --- LRBA 987 broad.mit.edu 37 4 151842374 151842374 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:151842374delA ENST00000535741.1 - 5 1094 c.621delT c.(619-621)ttfs p.F207fs LRBA_ENST00000507224.1_Frame_Shift_Del_p.F207fs|LRBA_ENST00000510413.1_Frame_Shift_Del_p.F207fs|LRBA_ENST00000357115.3_Frame_Shift_Del_p.F207fs P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 207 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CTGGAAAGTTAAAAAAGGCAT 0.408 7 1304 --- --- --- --- SPOCK3 50859 broad.mit.edu 37 4 168155291 168155292 + Frame_Shift_Del DEL CA CA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:168155291_168155292delCA ENST00000357154.3 - 2 170_171 c.33_34delTG c.(31-36)tgcafs p.CA11fs SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000541637.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000504953.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000502330.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000510741.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000511531.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000512648.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000506886.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000357545.4_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000511269.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000512681.1_Frame_Shift_Del_p.CA11fs NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 11 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) CAAGCGGCTGCACACACACACA 0.609 7 326 --- --- --- --- DDX60 55601 broad.mit.edu 37 4 169229302 169229302 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:169229302delA ENST00000393743.3 - 4 410 c.119delT c.(118-120)tgfs p.L40fs NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 40 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CCCATCAATCAAAAAAAATTC 0.308 7 314 --- --- --- --- SH3RF1 57630 broad.mit.edu 37 4 170043324 170043326 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:170043324_170043326delCAG ENST00000284637.9 - 7 1612_1614 c.1271_1273delCTG c.(1270-1275)gga>g p.AG424del SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 424 Poly-Ala. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GGTCCCATTCCAGCAGCAGCAGC 0.601 9 374 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 17 680 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190876218 190876219 + Frame_Shift_Ins INS - - AT TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:190876218_190876219insAT ENST00000226798.4 + 5 566_567 c.344_345insAT c.(343-345)atafs p.I115fs FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 115 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GGCTATGGAAAATATCTTGGTA 0.361 10 839 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190882978 190882980 + Splice_Site DEL AAG AAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:190882978_190882980delAAG ENST00000226798.4 + 8 853_855 c.629_splice c.e8-1 p.K212_splice NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 212 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TCTTTACAGAAAGAAATTTCAGA 0.276 8 1009 --- --- --- --- IRX4 50805 broad.mit.edu 37 5 1879669 1879671 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:1879669_1879671delCCT ENST00000505790.1 - 5 1139_1141 c.683_685delAGG c.(682-687)ggg>g p.EG228del IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 228 Poly-Glu. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) tcctcgcccccctcctcctcctc 0.685 12 280 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14399056 14399056 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:14399056delA ENST00000344204.4 + 30 4515 c.4491delA c.(4489-4491)ccfs p.P1497fs TRIO_ENST00000537187.1_Frame_Shift_Del_p.P1497fs|TRIO_ENST00000509967.2_Frame_Shift_Del_p.P1448fs NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1497 PH 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TGTGGGACCCAAAAACCTTAA 0.403 8 907 --- --- --- --- CDH12 1010 broad.mit.edu 37 5 21817055 21817055 + Splice_Site DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:21817055delT ENST00000382254.1 - 9 2087 c.1002_splice c.e9+1 p.K334_splice CDH12_ENST00000522262.1_Splice_Site_p.K294_splice|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Splice_Site_p.K334_splice NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 334 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCTATATACCTTTTTCAATTT 0.294 HNSCC(59;0.17) 7 1088 --- --- --- --- C6 729 broad.mit.edu 37 5 41160299 41160300 + Frame_Shift_Del DEL AC AC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:41160299_41160300delAC ENST00000263413.3 - 11 1892_1893 c.1628_1629delGT c.(1627-1629)tfs p.C543fs C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 543 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCCACTCTGACACACACACAG 0.475 8 1246 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388715 44388717 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:44388715_44388717delAGC ENST00000264664.4 - 1 182_184 c.68_70delGCT c.(67-72)ttt>t p.CF23del NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 23 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGCAACAAAAAGCAGCAGCAGCA 0.537 10 544 --- --- --- --- PLK2 10769 broad.mit.edu 37 5 57753012 57753012 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:57753012delA ENST00000274289.3 - 7 1304 c.1004delT c.(1003-1005)tgfs p.L335fs PLK2_ENST00000502671.1_5'UTR NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 335 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity p.L335fs*68(2) endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) ACCAACCTGCAAAAAAAAGTC 0.413 9 315 --- --- --- --- HAPLN1 1404 broad.mit.edu 37 5 82948434 82948434 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:82948434delT ENST00000274341.4 - 3 1160 c.310delA c.(310-312)ccfs p.T104fs HAPLN1_ENST00000514416.1_Frame_Shift_Del_p.T104fs NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 104 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding p.T104fs*8(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CCTCCATAGGTTTTTTTGTGG 0.443 7 1017 --- --- --- --- RAPGEF6 51735 broad.mit.edu 37 5 130782332 130782332 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:130782332delT ENST00000509018.1 - 22 3470 c.3265delA c.(3265-3267)ggfs p.R1089fs RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.R1097fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.R812fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.R1089fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.R1097fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.R1102fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.R1139fs NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1089 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CGGCGTGCCCTTTTTTTGTGA 0.453 10 1195 --- --- --- --- FNIP1 96459 broad.mit.edu 37 5 131007940 131007941 + Frame_Shift_Ins INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:131007940_131007941insT ENST00000307968.7 - 13 2111_2112 c.2112_2113insA c.(2110-2115)aactccfs p.NS704fs FNIP1_ENST00000510461.1_Frame_Shift_Ins_p.NS732fs|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Frame_Shift_Ins_p.NS687fs NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TTATCTGGAGGTTTTTTTTCCA 0.441 7 1329 --- --- --- --- CDC25C 995 broad.mit.edu 37 5 137627690 137627690 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:137627690delT ENST00000323760.6 - 8 1009 c.731delA c.(730-732)agfs p.K244fs CDC25C_ENST00000514555.1_Frame_Shift_Del_p.K214fs|CDC25C_ENST00000357274.3_Frame_Shift_Del_p.K201fs|CDC25C_ENST00000513970.1_Frame_Shift_Del_p.K244fs|CDC25C_ENST00000415130.2_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000348983.3_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000356505.3_Frame_Shift_Del_p.K214fs NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 244 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) AGAAAAATACTTTTTTTTAAC 0.388 7 803 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 7 74 --- --- --- --- SPRY4 81848 broad.mit.edu 37 5 141694361 141694363 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:141694361_141694363delTGC ENST00000344120.4 - 3 566_568 c.380_382delGCA c.(379-384)aca>a p.ST127del SPRY4_ENST00000434127.2_In_Frame_Del_p.ST104del NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 104 multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGAGGATGTGCTGCTGCTGCT 0.660 Testicular Cancer, Familial Clustering of 11 900 --- --- --- --- PCYOX1L 78991 broad.mit.edu 37 5 148747637 148747637 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:148747637delC ENST00000514349.1 + 5 1214 c.635delC c.(634-636)acfs p.T212fs PCYOX1L_ENST00000274569.4_Frame_Shift_Del_p.T302fs Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like 302 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCATCGCCACCCCCCTGCAC 0.562 OREG0016912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 1324 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216457 149216459 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:149216457_149216459delGGA ENST00000309241.5 + 8 2471_2473 c.2439_2441delGGA c.(2437-2442)ggg>gg p.GE813del PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 813 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) aggaagaaggggaggaggaggag 0.606 9 662 --- --- --- --- CANX 821 broad.mit.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:179149920delT ENST00000247461.4 + 11 1498 c.1298delT c.(1297-1299)atfs p.I433fs CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs|CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 433 SDI -> LTF (in Ref. 9; AAA35696). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTCTGACATTTTTTTTGAC 0.423 13 724 --- --- --- --- TUBB2B 347733 broad.mit.edu 37 6 3225002 3225004 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:3225002_3225004delCCT ENST00000259818.7 - 4 1510_1512 c.1319_1321delAGG c.(1318-1323)ggc>g p.EG440del TUBB2B_ENST00000473006.1_5'UTR NM_178012.4 NP_821080.1 Q9BVA1 TBB2B_HUMAN tubulin, beta 2B class IIb 440 'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1) 10 Ovarian(93;0.0386) all_hematologic(90;0.108) TCGTCCTCGCCCTCCTCCTCCTC 0.650 8 621 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 35 556 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384091 26384093 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:26384091_26384093delCCT ENST00000356709.4 + 2 153_155 c.42_44delCCT c.(40-45)tcc>tc p.SL14del BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 14 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGCCAGCCTCcctcctcctcctc 0.581 15 813 --- --- --- --- ZNF184 7738 broad.mit.edu 37 6 27420810 27420810 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:27420810delT ENST00000211936.6 - 6 812 c.528delA c.(526-528)aafs p.K176fs ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTACAGGGCCTTTTTCCCAAC 0.408 13 1560 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 13 34 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30569334 30569334 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:30569334delG ENST00000376511.2 - 20 3367 c.2815delC c.(2815-2817)tgfs p.L939fs NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 939 protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 CCCTAGGGCAGGGGGGGCCCA 0.572 8 479 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cca>cc p.PP720del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCTCGGAATggaggaggaggag 0.670 10 448 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30571900 30571900 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:30571900delG ENST00000376511.2 - 14 1945 c.1393delC c.(1393-1395)ggfs p.R465fs NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 465 Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 ACCAGGGGCCGGGGGCACACC 0.582 7 2005 --- --- --- --- TAF11 6882 broad.mit.edu 37 6 34846381 34846381 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:34846381delT ENST00000361288.4 - 5 753 c.622delA c.(622-624)tcfs p.I209fs UHRF1BP1_ENST00000452449.2_Intron|TAF11_ENST00000420584.2_3'UTR NM_005643.3 NP_005634.1 Q15544 TAF11_HUMAN TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa 209 positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIID complex protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding p.I208fs*>4(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 AAGAAGATGATTTTTTTGTGC 0.423 7 817 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 22 324 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 20 875 --- --- --- --- UBR2 23304 broad.mit.edu 37 6 42625778 42625778 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:42625778delA ENST00000372899.1 + 27 3147 c.2889delA c.(2887-2889)ccfs p.P963fs UBR2_ENST00000372883.3_Frame_Shift_Del_p.P467fs|UBR2_ENST00000372901.1_Frame_Shift_Del_p.P963fs NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 963 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GTGAAGCGCCAAAAAATTCTC 0.383 9 1872 --- --- --- --- GLTSCR1L 23506 broad.mit.edu 37 6 42823616 42823616 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:42823616delA ENST00000314073.5 + 9 2245 c.2069delA c.(2068-2070)cafs p.Q690fs GLTSCR1L_ENST00000394168.1_Frame_Shift_Del_p.Q690fs GLTSCR1-like TCGGGAGGACAAAAAAGGCCT 0.388 9 1150 --- --- --- --- RNGTT 8732 broad.mit.edu 37 6 89638988 89638988 + Splice_Site DEL T T - rs111616936 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:89638988delT ENST00000369485.4 - 3 361 c.e3-2 RNGTT_ENST00000265607.6_Splice_Site|RNGTT_ENST00000538899.1_Splice_Site|RNGTT_ENST00000369475.3_Splice_Site NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) CATTTTAACCTAAAAAAAAAA 0.299 8 355 --- --- --- --- FYN 2534 broad.mit.edu 37 6 111983042 111983042 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:111983042delT ENST00000354650.3 - 14 2120 c.1514delA c.(1513-1515)agfs p.K505fs FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs|FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 505 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTCAGGGTCCTTTTTCCAGCA 0.562 9 1895 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767596 127767596 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:127767596delC ENST00000483725.3 - 5 2204 c.1868delG c.(1867-1869)gafs p.G623fs SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) CACTTCCTGTCCCCCCCACAC 0.398 10 2601 --- --- --- --- EPB41L2 2037 broad.mit.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:131191073_131191075delCTG ENST00000337057.3 - 15 2416_2418 c.2235_2237delCAG c.(2233-2238)agt>ag p.SS745del EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 745 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCACTCTCACTGCTGCTGCTGC 0.562 12 830 --- --- --- --- AIG1 51390 broad.mit.edu 37 6 143457987 143457987 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:143457987delT ENST00000494282.2 + 2 182 c.157delT c.(157-159)ttfs p.F54fs AIG1_ENST00000344492.5_Intron|AIG1_ENST00000367598.5_Frame_Shift_Del_p.F54fs|AIG1_ENST00000275235.4_Frame_Shift_Del_p.F54fs|AIG1_ENST00000357847.4_Frame_Shift_Del_p.F54fs Q9NVV5 AIG1_HUMAN androgen-induced 1 54 integral to membrane endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246) CCAGGCTGTCTTTTTTGGCAT 0.507 9 1857 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755399 146755401 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:146755399_146755401delCAG ENST00000361719.2 + 9 3522_3524 c.3052_3054delCAG c.(3052-3054)del p.Q1022del GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del|GRM1_ENST00000492807.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1022 Gln/Pro-rich. synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCTCCTCTCCAGCAGCAGCAGC 0.660 9 1359 --- --- --- --- SYNJ2 8871 broad.mit.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:158508009delC ENST00000355585.4 + 23 3406 c.3331delC c.(3331-3333)ccfs p.P1114fs SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs|SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs|SYNJ2_ENST00000367122.2_Intron NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1114 Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding p.P1113fs*5(1) biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CCCGCAGAGACCCCCCCCTCC 0.637 8 546 --- --- --- --- LPAL2 0 broad.mit.edu 37 6 160931971 160931972 + RNA INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:160931971_160931972insA ENST00000335388.5 - 0 166 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) AATTATTACACAAAAAAAACTA 0.322 7 706 --- --- --- --- COX19 90639 broad.mit.edu 37 7 1009017 1009017 + Frame_Shift_Del DEL T T - rs75087611 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:1009017delT ENST00000344111.3 - 3 359 c.270delA c.(268-270)aafs p.K90fs NM_001031617.2 NP_001026788.1 Q49B96 COX19_HUMAN cytochrome c oxidase assembly homolog 19 (S. cerevisiae) 90 cytosol endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15) TCAAAATTCATTTTTTTGCCT 0.463 7 2535 --- --- --- --- ZDHHC4 55146 broad.mit.edu 37 7 6621848 6621849 + Frame_Shift_Ins INS - - T rs34551853 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:6621848_6621849insT ENST00000396706.2 + 5 779_780 c.336_337insT c.(334-339)ctttttfs p.LF112fs ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 112 integral to membrane acyltransferase activity|zinc ion binding p.F115fs*3(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GTGTAAACCTGTTTTTTTTCAC 0.450 12 1477 --- --- --- --- PMS2CL 0 broad.mit.edu 37 7 6771663 6771664 + RNA INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:6771663_6771664insT ENST00000486256.1 + 0 619 NR_002217.1 AGGATTCCTACttttttttttc 0.416 11 308 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:24705666delA ENST00000396475.2 + 9 1209 c.910delA c.(910-912)aafs p.K308fs MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 308 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TATAAGTAGCAAAAAAAAGAA 0.299 7 1180 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27222461 27222462 + Frame_Shift_Ins INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:27222461_27222462insT ENST00000006015.3 - 2 966_967 c.895_896insA c.(895-897)taafs p.*299fs NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 299 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 GTCTCTGTTAATTTTTTTTTCC 0.446 T NUP98 CML 26 852 --- --- --- --- AOAH 313 broad.mit.edu 37 7 36552949 36552949 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:36552949delT ENST00000431169.1 - 22 2056 c.1756delA c.(1756-1758)ggfs p.R586fs AOAH_ENST00000258749.5_Frame_Shift_Del_p.K546fs|AOAH_ENST00000535891.1_Frame_Shift_Del_p.K514fs|AOAH_ENST00000538464.1_Frame_Shift_Del_p.K268fs NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 0 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GAGCTGCACCTTTTTCCAGAA 0.502 8 564 --- --- --- --- INHBA 3624 broad.mit.edu 37 7 41729741 41729743 + In_Frame_Del DEL TTC TTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:41729741_41729743delTTC ENST00000242208.4 - 3 1032_1034 c.786_788delGAA c.(784-789)aaa>aa p.KK262del AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|INHBA_ENST00000464515.1_5'UTR NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 262 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ctcctcttctttcttcttcttct 0.581 TSP Lung(11;0.080) 9 318 --- --- --- --- VKORC1L1 154807 broad.mit.edu 37 7 65419353 65419354 + In_Frame_Ins INS - - TTA rs71982071 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:65419353_65419354insTTA ENST00000434382.2 + 2 490_491 c.487_488insTTA c.(487-489)tat>TTAtat p.162_163insL VKORC1L1_ENST00000360768.3_3'UTR Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 0 integral to membrane large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170)|Warfarin(DB00682) GCAGCAGGTTTttattattatt 0.416 11 67 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:72664015_72664016insG ENST00000425256.1 - 0 884_885 NR_002164.1 ATACCACCCCCGGGGCATGCCA 0.505 8 153 --- --- --- --- STX1A 6804 broad.mit.edu 37 7 73123425 73123427 + In_Frame_Del DEL CAT CAT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:73123425_73123427delCAT ENST00000222812.3 - 2 82_84 c.56_58delATG c.(55-60)gtc>g p.DV19del STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 19 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGACAGCGACATCATCATCATC 0.586 7 1137 --- --- --- --- LIMK1 3984 broad.mit.edu 37 7 73535310 73535311 + Frame_Shift_Ins INS - - C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:73535310_73535311insC ENST00000418310.1 + 15 1904_1905 c.1802_1803insC c.(1801-1803)tccfs p.S601fs LIMK1_ENST00000336180.2_Frame_Shift_Ins_p.S571fs|LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.S537fs P53667 LIMK1_HUMAN LIM domain kinase 1 571 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) GACCGCTACTGCCCCCCAAACT 0.644 7 2111 --- --- --- --- AC118138.2 0 broad.mit.edu 37 7 74776112 74776113 + RNA INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:74776112_74776113insA ENST00000420642.1 + 0 554 aaaaacaaaacaaaaaaaaaac 0.401 8 29 --- --- --- --- RSBN1L 222194 broad.mit.edu 37 7 77326220 77326222 + In_Frame_Del DEL CCG CCG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:77326220_77326222delCCG ENST00000334955.7 + 1 461_463 c.434_436delCCG c.(433-438)ccc>c p.PA145del NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 145 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTCCTCCTGCCCGCCGCCGCCGC 0.685 10 249 --- --- --- --- ABCB4 5244 broad.mit.edu 37 7 87074281 87074282 + Frame_Shift_Ins INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:87074281_87074282insA ENST00000265723.4 - 10 1126_1127 c.1015_1016insT c.(1015-1017)aatfs p.N339fs ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.N339fs NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 339 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.S339fs*3(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) AATTAGGATTGAAAAAAAAACC 0.347 7 267 --- --- --- --- PTCD1 26024 broad.mit.edu 37 7 99032605 99032607 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:99032605_99032607delCTC ENST00000292478.4 - 2 509_511 c.259_261delGAG c.(259-261)del p.E87del ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 p.E87K(1) endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCCCAAAACTCTCCTCCTCCTCC 0.606 8 969 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028452 100028454 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:100028452_100028454delCAG ENST00000310512.2 + 1 1199_1201 c.811_813delCAG c.(811-813)del p.Q274del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 274 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACAGCACCACCAGCAGCAGCAGG 0.650 7 1444 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028823 100028825 + In_Frame_Del DEL CCA CCA - rs71555278 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:100028823_100028825delCCA ENST00000310512.2 + 1 1570_1572 c.1182_1184delCCA c.(1180-1185)cgc>cg p.RH394del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 394 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGGCCGCCACCACCACCAC 0.581 8 488 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100283635 100283637 + In_Frame_Del DEL TCC TCC - rs142340746 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:100283635_100283637delTCC ENST00000275732.5 - 9 2223_2225 c.1014_1016delGGA c.(1012-1017)gaa>ga p.EE338del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 338 Poly-Glu. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TTCGGAAGGTTCCTCCTCCTCCT 0.675 7 528 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCAGCTGCcctcctcctcctc 0.700 8 391 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100384030 100384033 + RNA DEL TTGT TTGT - rs71973809 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:100384030_100384033delTTGT ENST00000542585.1 + 0 7124 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ttttcttttcttgtttgtttgttt 0.505 4 4 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100482040 100482042 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:100482040_100482042delAGG ENST00000388793.4 + 7 1029_1031 c.809_811delAGG c.(808-813)cag>c p.QE270del SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del|SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del|SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 270 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ATCCTGGAGCAGGAGGAGGAGGA 0.596 12 168 --- --- --- --- LAMB1 3912 broad.mit.edu 37 7 107572729 107572730 + Frame_Shift_Ins INS - - C rs57244800 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:107572729_107572730insC ENST00000393561.1 - 26 4537_4538 c.4353_4354insG c.(4351-4356)ggctggfs p.W1452fs LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.W1428fs|LAMB1_ENST00000474380.1_5'UTR P07942 LAMB1_HUMAN laminin, beta 1 1428 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCACAGCCAGGCCCCCCACACT 0.584 9 1458 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114270016 114270018 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:114270016_114270018delCAG ENST00000393500.3 + 11 1148_1150 c.328_330delCAG c.(328-330)del p.Q116del FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del 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.Q210Q(2) 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 gcagcagcaacagcagcagcagc 0.507 13 426 --- --- --- --- ZNF800 168850 broad.mit.edu 37 7 127015056 127015057 + Frame_Shift_Ins INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:127015056_127015057insT ENST00000393313.1 - 5 924_925 c.333_334insA c.(331-336)caccatfs p.HH111fs ZNF800_ENST00000393312.1_Frame_Shift_Ins_p.HH111fs|ZNF800_ENST00000265827.3_Frame_Shift_Ins_p.HH111fs Q2TB10 ZN800_HUMAN zinc finger protein 800 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TCATTTATGGCTTGGCTTTGTT 0.327 OREG0003806 type=REGULATORY REGION|Gene=BC037348|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 813 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 13 1306 --- --- --- --- TRBV6-8 0 broad.mit.edu 37 7 142124496 142124497 + RNA INS - - G rs72463875 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:142124496_142124497insG ENST00000390376.2 - 0 49 AATCCACGCAAGGGCCCTGCCC 0.614 11 721 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149474083 149474083 + RNA DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:149474083delG ENST00000378016.2 + 0 293 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGCCCAGGCTGGGGGGGCGCC 0.622 9 621 --- --- --- --- XRCC2 7516 broad.mit.edu 37 7 152346220 152346220 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:152346220delA ENST00000359321.1 - 3 435 c.350delT c.(349-351)tgfs p.L117fs XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 117 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity p.V118fs*5(1) NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) GCAGTACACCAAAAAAAATCT 0.393 Homologous recombination 10 693 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 19 598 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 8 27 --- --- --- --- DMTN 2039 broad.mit.edu 37 8 21926552 21926552 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:21926552delC ENST00000358242.3 + 5 768 c.275delC c.(274-276)tcfs p.S92fs DMTN_ENST00000381470.3_Frame_Shift_Del_p.S92fs|DMTN_ENST00000265800.5_Frame_Shift_Del_p.S92fs|DMTN_ENST00000519907.1_Frame_Shift_Del_p.S92fs|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000415253.1_Frame_Shift_Del_p.S92fs|DMTN_ENST00000432128.1_Frame_Shift_Del_p.S92fs|DMTN_ENST00000523266.1_Frame_Shift_Del_p.S92fs|DMTN_ENST00000523782.2_Frame_Shift_Del_p.S67fs|DMTN_ENST00000443491.2_Frame_Shift_Del_p.S67fs dematin actin binding protein AAATCCACATCCCCCCCACCA 0.602 7 1019 --- --- --- --- ADAM28 10863 broad.mit.edu 37 8 24167472 24167473 + Frame_Shift_Ins INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:24167472_24167473insA ENST00000265769.4 + 3 326_327 c.216_217insA c.(214-219)ttaaaafs p.LK72fs ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Frame_Shift_Ins_p.LK72fs|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 72 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.N75fs*15(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TGCTTTATTTGAAAAAAAACAA 0.332 9 800 --- --- --- --- PBK 55872 broad.mit.edu 37 8 27668477 27668479 + In_Frame_Del DEL TCA TCA - rs116080983 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:27668477_27668479delTCA ENST00000301905.4 - 7 1231_1233 c.768_770delTGA c.(766-771)gaa>ga p.DE256del PBK_ENST00000522944.1_In_Frame_Del_p.DE267del|ESCO2_ENST00000397418.2_Intron NM_018492.2 NP_060962.2 Q96KB5 TOPK_HUMAN PDZ binding kinase 256 Protein kinase. mitosis ATP binding|protein binding|protein serine/threonine kinase activity endometrium(1)|large_intestine(2)|lung(1) 4 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141) ATTCATACCTTCATCATCATCAT 0.300 8 392 --- --- --- --- NUGGC 389643 broad.mit.edu 37 8 27888776 27888776 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:27888776delT ENST00000413272.2 - 15 2034 c.1892delA c.(1891-1893)atfs p.N631fs NUGGC_ENST00000341513.6_Frame_Shift_Del_p.N631fs NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GATCAGGAAATTTTTTTTGCA 0.453 10 1416 --- --- --- --- NRG1 3084 broad.mit.edu 37 8 32614021 32614021 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:32614021delC ENST00000338921.4 + 10 1445 c.928delC c.(928-930)ccfs p.P311fs NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Frame_Shift_Del_p.P274fs|NRG1_ENST00000287840.5_Frame_Shift_Del_p.P303fs|NRG1_ENST00000523079.1_Frame_Shift_Del_p.P300fs|NRG1_ENST00000287842.3_Frame_Shift_Del_p.P300fs|NRG1_ENST00000519301.1_Frame_Shift_Del_p.P253fs|NRG1_ENST00000521670.1_Frame_Shift_Del_p.P303fs|NRG1_ENST00000356819.4_Frame_Shift_Del_p.P308fs|NRG1_ENST00000539990.1_Frame_Shift_Del_p.P146fs|NRG1_ENST00000405005.2_Frame_Shift_Del_p.P303fs Q02297 NRG1_HUMAN neuregulin 1 303 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TCCTAACCCACCCCCCGAGAA 0.493 7 1020 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61769038 61769040 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:61769038_61769040delGGA ENST00000423902.2 + 34 7678_7680 c.7199_7201delGGA c.(7198-7203)cgg>c p.RR2404del CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2404 Poly-Arg. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CCTCGCCAGCGGAGGAGGAGGAG 0.512 9 232 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733713 81733713 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:81733713delT ENST00000327835.3 - 2 348 c.117delA c.(115-117)aafs p.K39fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 39 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TCCGGCTGGCTTTTTTGGTGT 0.428 7 2406 --- --- --- --- LRRCC1 85444 broad.mit.edu 37 8 86038947 86038948 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:86038947_86038948delAG ENST00000414626.2 + 8 2125_2126 c.1236_1237delAG c.(1234-1239)caagfs p.QE412fs LRRCC1_ENST00000360375.3_Frame_Shift_Del_p.QE432fs Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 432 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 AGCTAGACCAAGAGAGAGAGAA 0.361 10 401 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 20 402 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 100990177 100990178 + Frame_Shift_Ins INS - - T rs7841915 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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 14 433 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:113241029delA ENST00000297405.5 - 70 11164 c.10920delT c.(10918-10920)ttfs p.F3640fs CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F3471fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F3600fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F3570fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3640 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATATAAGTGCAAAAAAAGGCA 0.303 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 612 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 14 335 --- --- --- --- MYC 4609 broad.mit.edu 37 8 128750605 128750607 + In_Frame_Del DEL CAG CAG - rs61752959 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:128750605_128750607delCAG ENST00000377970.2 + 2 652_654 c.142_144delCAG c.(142-144)del p.Q52del MYC_ENST00000259523.6_In_Frame_Del_p.Q37del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 37 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q33H(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GAACTTCTACCAGCAGCAGCAGC 0.611 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 682 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139809072 139809072 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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) 9 2197 --- --- --- --- AGO2 27161 broad.mit.edu 37 8 141554345 141554345 + Frame_Shift_Del DEL G G - rs148575703 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:141554345delG ENST00000220592.5 - 14 1918 c.1806delC c.(1804-1806)ccfs p.P602fs AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CATCCCCGGCGGGGGGGTGAG 0.647 7 1602 --- --- --- --- KIAA0020 9933 broad.mit.edu 37 9 2837296 2837296 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:2837296delT ENST00000397885.2 - 3 394 c.188delA c.(187-189)agfs p.K63fs NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 63 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) CTTTACACCCTTTTTCCCAAG 0.388 8 1559 --- --- --- --- KIAA1432 57589 broad.mit.edu 37 9 5743708 5743708 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:5743708delA ENST00000414202.2 + 10 1257 c.1066delA c.(1066-1068)aafs p.K357fs KIAA1432_ENST00000449720.2_Frame_Shift_Del_p.K278fs|KIAA1432_ENST00000251879.6_Frame_Shift_Del_p.K357fs|KIAA1432_ENST00000418622.3_Frame_Shift_Del_p.K278fs|KIAA1432_ENST00000381532.2_Frame_Shift_Del_p.K278fs NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 357 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TGATGGCACCAAAAAAGATCC 0.279 7 1384 --- --- --- --- PTPLAD2 401494 broad.mit.edu 37 9 21007045 21007046 + Frame_Shift_Ins INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:21007045_21007046insT ENST00000495827.1 - 7 734_735 c.689_690insA c.(688-690)aaafs p.K230fs PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 230 Poly-Lys. fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TTCACATCTTCTTTTTTTTAAT 0.371 15 631 --- --- --- --- ACO1 48 broad.mit.edu 37 9 32420980 32420980 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:32420980delT ENST00000379923.1 + 9 1131 c.925delT c.(925-927)ttfs p.F310fs ACO1_ENST00000309951.5_Frame_Shift_Del_p.F310fs|ACO1_ENST00000541043.1_Frame_Shift_Del_p.F211fs NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 310 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) AACTGCTGCCTTTTTCCCAGT 0.483 7 1592 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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 17 191 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 10 190 --- --- --- --- ANKRD19P 0 broad.mit.edu 37 9 95599088 95599089 + RNA DEL CA CA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:95599088_95599089delCA ENST00000473204.1 + 0 1169_1170 TTCACGGGCGCACACACACACA 0.421 9 396 --- --- --- --- PTCH1 5727 broad.mit.edu 37 9 98278959 98278961 + In_Frame_Del DEL TTC TTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:98278959_98278961delTTC ENST00000375274.2 - 1 286_288 c.142_144delGAA c.(142-144)del p.E48del PTCH1_ENST00000430669.2_5'UTR|PTCH1_ENST00000468211.2_5'UTR|PTCH1_ENST00000437951.1_5'UTR Q13635 PTC1_HUMAN patched 1 0 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) ctcctccgttttcttcttcttct 0.586 9 418 --- --- --- --- PALM2 114299 broad.mit.edu 37 9 112705448 112705448 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:112705448delA ENST00000448454.2 + 8 985 c.985delA c.(985-987)aafs p.K330fs PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000314527.4_Frame_Shift_Del_p.K328fs|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000374531.2_Frame_Shift_Del_p.K296fs|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000483909.1_Frame_Shift_Del_p.K294fs paralemmin 2 breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 18 AGAGGAGACGAAAAAGGTGCT 0.507 8 826 --- --- --- --- CCBL1 883 broad.mit.edu 37 9 131600393 131600393 + Frame_Shift_Del DEL A A - rs34879109 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:131600393delA ENST00000436267.2 - 7 806 c.657delT c.(655-657)ttfs p.F219fs CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Frame_Shift_Del_p.F125fs|CCBL1_ENST00000320665.6_Frame_Shift_Del_p.F75fs Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 125 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) CGTAGCAGTCAAAAAAGGGTT 0.537 7 1118 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135941982 135941982 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:135941982delG ENST00000372080.4 + 5 629 c.613delG c.(613-615)ggfs p.G206fs CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 203 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CGCGGCCTTCGGGGGGGACCC 0.642 8 1457 --- --- --- --- SURF2 6835 broad.mit.edu 37 9 136226880 136226882 + In_Frame_Del DEL GGA GGA - rs149969130 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:136226880_136226882delGGA ENST00000371964.4 + 4 433_435 c.392_394delGGA c.(391-396)cgg>c p.RR133del SURF2_ENST00000495524.1_3'UTR NM_017503.3 NP_059973.3 Q15527 SURF2_HUMAN surfeit 2 133 protein binding breast(1)|large_intestine(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) CTGGTGCACCGGAGGAGGAGGAG 0.635 11 257 --- --- --- --- C9orf69 90120 broad.mit.edu 37 9 139008444 139008446 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:139008444_139008446delCAG ENST00000561457.1 - 2 825_827 c.375_377delCTG c.(373-378)tgg>tg p.CW125del C9orf69_ENST00000418388.1_In_Frame_Del_p.L101del NM_152833.2 NP_690046.3 chromosome 9 open reading frame 69 endometrium(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06) GCCGGCGGCCCAGCAGCAGCAGC 0.685 8 238 --- --- --- --- GRIN1 2902 broad.mit.edu 37 9 140056884 140056886 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:140056884_140056886delGAG ENST00000371561.3 + 13 2877_2879 c.1780_1782delGAG c.(1780-1782)del p.E598del GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000471122.1_3'UTR NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 598 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GGTGAACAGCGAGGAGGAGGAGG 0.739 12 289 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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 9 167 --- --- --- --- NDOR1 27158 broad.mit.edu 37 9 140100743 140100743 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:140100743delC ENST00000371521.4 + 2 278 c.195delC c.(193-195)gafs p.D65fs NDOR1_ENST00000344894.5_Frame_Shift_Del_p.D65fs|NDOR1_ENST00000427047.2_Frame_Shift_Del_p.D65fs|NDOR1_ENST00000458322.2_Frame_Shift_Del_p.D65fs NM_001144026.1 NP_001137498.1 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 65 Flavodoxin-like. cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GCCAAGGAGACCCCCCTGACA 0.527 7 2277 --- --- --- --- SFMBT2 57713 broad.mit.edu 37 10 7212995 7212997 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:7212995_7212997delCTC ENST00000361972.4 - 20 2527_2529 c.2437_2439delGAG c.(2437-2439)del p.E813del SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 813 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GAACCAGTCTCTCCTCCTCCTCC 0.596 12 1433 --- --- --- --- ABI1 10006 broad.mit.edu 37 10 27040624 27040626 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:27040624_27040626delTGG ENST00000355394.4 - 11 1478_1480 c.1255_1257delCCA c.(1255-1257)del p.P419del ABI1_ENST00000490841.2_In_Frame_Del_p.P239del|ABI1_ENST00000376170.4_In_Frame_Del_p.P361del|ABI1_ENST00000376134.3_In_Frame_Del_p.P392del|ABI1_ENST00000536334.1_In_Frame_Del_p.P304del|ABI1_ENST00000376142.2_In_Frame_Del_p.P418del|ABI1_ENST00000359188.4_In_Frame_Del_p.P390del|ABI1_ENST00000376138.3_In_Frame_Del_p.P362del|ABI1_ENST00000376139.2_In_Frame_Del_p.P386del|ABI1_ENST00000346832.5_In_Frame_Del_p.P406del|ABI1_ENST00000376137.4_In_Frame_Del_p.P333del|ABI1_ENST00000376160.1_In_Frame_Del_p.P385del|ABI1_ENST00000376166.1_In_Frame_Del_p.P356del|ABI1_ENST00000376140.3_In_Frame_Del_p.P391del Q8IZP0 ABI1_HUMAN abl-interactor 1 418 actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CATAATCCACTGGTGGTGGTGGT 0.478 7 491 --- --- --- --- C10orf68 79741 broad.mit.edu 37 10 33018277 33018277 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:33018277delA ENST00000375030.2 + 13 1360 c.742delA c.(742-744)aafs p.K250fs C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs|C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 242 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 TTTAGAAATCAAAAAAAAGGA 0.323 11 553 --- --- --- --- CCNYL2 414194 broad.mit.edu 37 10 42924610 42924610 + RNA DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:42924610delA ENST00000483242.3 - 0 799 NR_103829.1 cyclin Y-like 2 breast(2)|endometrium(1)|lung(3)|ovary(1) 7 CTGTGGAAGGAAAAAAAATAT 0.348 7 348 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50732139 50732141 + In_Frame_Del DEL CCT CCT - rs4253047 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:50732139_50732141delCCT ENST00000355832.5 - 5 1413_1415 c.1335_1337delAGG c.(1333-1338)ggt>gg p.GG445del ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 445 Gly-rich. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CACTTTCCGACCTCCTCCTCCTC 0.458 Direct reversal of damage;Nucleotide excision repair (NER) 17 1237 --- --- --- --- RP11-324H6.5 0 broad.mit.edu 37 10 51816545 51816545 + RNA DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:51816545delT ENST00000456967.1 - 0 1570 NR_038275.1 CCTGCTCACCTTTTTTTCTGC 0.438 7 593 --- --- --- --- A1CF 29974 broad.mit.edu 37 10 52569667 52569669 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:52569667_52569669delAGC ENST00000395489.2 - 14 1993_1995 c.1597_1599delGCT c.(1597-1599)del p.A533del ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_In_Frame_Del_p.A532del|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del|A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|A1CF_ENST00000373993.1_In_Frame_Del_p.A540del|A1CF_ENST00000395495.1_In_Frame_Del_p.A485del NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 540 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GGAAagcagtagcagcagcagca 0.512 14 630 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 56077158 56077160 + In_Frame_Del DEL GTG GTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:56077158_56077160delGTG ENST00000373965.2 - 8 1141_1143 c.747_749delCAC c.(745-750)act>ac p.TT249del PCDH15_ENST00000373957.3_In_Frame_Del_p.TT227del|PCDH15_ENST00000414778.1_In_Frame_Del_p.TT254del|PCDH15_ENST00000395438.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395440.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000373955.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395430.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000361849.3_In_Frame_Del_p.TT249del|PCDH15_ENST00000395433.1_In_Frame_Del_p.TT227del|PCDH15_ENST00000395432.2_In_Frame_Del_p.TT212del|PCDH15_ENST00000395442.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395445.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000437009.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000320301.6_In_Frame_Del_p.TT249del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 249 Cadherin 2. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.T250N(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CACTGTGAGAGTGGTGGTGGTGG 0.463 HNSCC(58;0.16) 10 1337 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3964 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ggtggtggcagtggtggtggtgg 0.498 13 825 --- --- --- --- ARID5B 84159 broad.mit.edu 37 10 63852298 63852298 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:63852298delA ENST00000279873.7 + 10 3486 c.3076delA c.(3076-3078)aafs p.K1027fs ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1027 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GATTGCAGGGAAAAAGGCCCG 0.607 8 1058 --- --- --- --- KAT6B 23522 broad.mit.edu 37 10 76735895 76735897 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:76735895_76735897delCTC ENST00000287239.4 + 8 2289_2291 c.1800_1802delCTC c.(1798-1803)cac>ca p.HS600del KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 600 Negatively regulates HAT activity.|Poly-Ser. 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 TTATTTCTCACTCCTCCTCCTCT 0.424 9 683 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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 12 1870 --- --- --- --- KIF20B 9585 broad.mit.edu 37 10 91498335 91498337 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:91498335_91498337delAAG ENST00000416354.1 + 20 3899_3901 c.3827_3829delAAG c.(3826-3831)aaa>a p.KE1276del KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del|KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del Q96Q89 KI20B_HUMAN kinesin family member 20B 1246 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 CTTCAATTAAAAGAAGAAGAAGA 0.276 8 419 --- --- --- --- HECTD2 143279 broad.mit.edu 37 10 93247481 93247481 + Frame_Shift_Del DEL A A - rs57105282 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:93247481delA ENST00000446394.1 + 12 1249 c.1149delA c.(1147-1149)gcfs p.A383fs HECTD2_ENST00000536715.1_Intron|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000298068.5_Frame_Shift_Del_p.A379fs|HECTD2_ENST00000371667.1_Frame_Shift_Del_p.A29fs Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 379 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 CTGTAGCTGCAAAAAAAATCA 0.318 8 1023 --- --- --- --- HELLS 3070 broad.mit.edu 37 10 96331163 96331163 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:96331163delA ENST00000348459.5 + 7 559 c.454delA c.(454-456)aafs p.K153fs HELLS_ENST00000371332.4_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394044.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_Stop_Codon_Del NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 153 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) GTCTGTGGCTAAAAAAAATAA 0.254 9 446 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101559000 101559000 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:101559000delA ENST00000370449.4 + 8 1017 c.904delA c.(904-906)aafs p.K303fs NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 303 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTCTGGGACCAAAAAAGATGT 0.403 7 1499 --- --- --- --- SCD 6319 broad.mit.edu 37 10 102107836 102107838 + In_Frame_Del DEL ACC ACC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:102107836_102107838delACC ENST00000370355.2 + 2 424_426 c.43_45delACC c.(43-45)del p.T19del NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 19 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) TAGCTCCTATACCACCACCACCA 0.581 8 1171 --- --- --- --- FAM178A 0 broad.mit.edu 37 10 102690753 102690753 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:102690753delT ENST00000238961.3 + 9 2502 c.2354delT c.(2353-2355)atfs p.I785fs FAM178A_ENST00000370269.3_Frame_Shift_Del_p.I785fs NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 785 ACAGATCAGATTTTTTTGACA 0.378 10 869 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 11 1133 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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 10 823 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 11 1503 --- --- --- --- PTPRE 5791 broad.mit.edu 37 10 129876002 129876004 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr10:129876002_129876004delAGC ENST00000254667.3 + 19 2126_2128 c.1847_1849delAGC c.(1846-1851)aag>a p.KQ616del PTPRE_ENST00000306042.5_In_Frame_Del_p.KQ558del|PTPRE_ENST00000419012.2_In_Frame_Del_p.KQ616del NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 616 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GCCGTGCAGAAGCAGCAGCAGCA 0.650 9 662 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 26 990 --- --- --- --- PHRF1 57661 broad.mit.edu 37 11 592586 592588 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:592586_592588delGAG ENST00000264555.5 + 6 660_662 c.532_534delGAG c.(532-534)del p.E181del PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 181 Poly-Glu. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CAAAGCGAGCGAGGAGGAGGAGG 0.616 10 1265 --- --- --- --- CDHR5 53841 broad.mit.edu 37 11 618994 618994 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:618994delG ENST00000358353.3 - 14 1887 c.1565delC c.(1564-1566)cgfs p.P522fs CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P522fs Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 522 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 TTCTGCACCCGGGGGCCCCCC 0.677 7 1176 --- --- --- --- AP2A2 161 broad.mit.edu 37 11 970195 970195 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:970195delA ENST00000448903.2 + 3 304 c.163delA c.(163-165)aafs p.K57fs AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 57 Lipid-binding. axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity p.K57fs*24(1) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TGGCTATAGTAAAAAAAAGTA 0.488 11 1005 --- --- --- --- NAP1L4 4676 broad.mit.edu 37 11 2991166 2991167 + Splice_Site INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:2991166_2991167insA ENST00000380542.4 - 7 543 c.e7-2 NAP1L4_ENST00000526115.1_Splice_Site NM_005969.3 NP_005960.1 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) CATGTCTCCCTAAAAAAAAGAT 0.416 11 341 --- --- --- --- FAM160A2 84067 broad.mit.edu 37 11 6244960 6244960 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:6244960delA ENST00000265978.4 - 3 1015 c.657delT c.(655-657)ttfs p.F219fs FAM160A2_ENST00000524416.1_Frame_Shift_Del_p.F219fs|FAM160A2_ENST00000449352.2_Frame_Shift_Del_p.F219fs NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 219 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTCGATGCACAAAAGGGACAA 0.617 7 1475 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 15 288 --- --- --- --- RRP8 23378 broad.mit.edu 37 11 6623336 6623338 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:6623336_6623338delTCC ENST00000254605.6 - 2 324_326 c.207_209delGGA c.(205-210)gaa>ga p.EE69del RRP8_ENST00000534343.1_Intron NM_015324.3 NP_056139.1 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, homolog (yeast) 69 Poly-Glu. chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 CTTCTTCCTTTCCTCCTCCTCCT 0.532 12 555 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662142 6662142 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:6662142delG ENST00000299441.3 - 2 1114 c.703delC c.(703-705)ggfs p.R236fs NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 236 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGCCCTCCGGGGGGGTGAA 0.587 8 1067 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:6867223_6867225delTTC ENST00000299454.4 + 1 341_343 c.310_312delTTC c.(310-312)del p.F108del OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 21 1038 --- --- --- --- PSMA1 5682 broad.mit.edu 37 11 14529252 14529254 + In_Frame_Del DEL CAT CAT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:14529252_14529254delCAT ENST00000530457.1 - 9 1138_1140 c.608_610delATG c.(607-612)gtg>g p.DV203del PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del P25786 PSA1_HUMAN proteasome (prosome, macropain) subunit, alpha type, 1 228 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 AATGGAGACACATCATCATCATC 0.360 10 798 --- --- --- --- KCNA4 3739 broad.mit.edu 37 11 30034029 30034031 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:30034029_30034031delTGG ENST00000328224.6 - 2 1428_1430 c.195_197delCCA c.(193-198)cag>ca p.HQ65del NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 65 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCGCGTGACTGGTGGTGGTGGT 0.660 10 607 --- --- --- --- APIP 51074 broad.mit.edu 37 11 34910341 34910341 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:34910341delT ENST00000395787.3 - 4 497 c.283delA c.(283-285)gcfs p.S95fs APIP_ENST00000278359.5_Frame_Shift_Del_p.S112fs|APIP_ENST00000527830.1_5'UTR NM_015957.2 NP_057041.2 Q96GX9 MTNB_HUMAN APAF1 interacting protein 95 apoptosis|L-methionine salvage cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity kidney(2)|lung(1)|skin(1) 4 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) GTACACTGGCTTTTTTTTAGC 0.343 11 506 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:35513670delC ENST00000378880.2 - 3 747 c.302delG c.(301-303)gtfs p.G101fs PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 ATCCAAGGTACCCCCCCATGA 0.517 10 1921 --- --- --- --- ARHGAP1 392 broad.mit.edu 37 11 46702224 46702224 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:46702224delG ENST00000311956.4 - 8 806 c.709delC c.(709-711)tgfs p.L237fs NM_004308.2 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 237 Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) TGGTTGGGCAGGGGGGGCCGT 0.642 7 739 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 7 1351 --- --- --- --- OR8I2 120586 broad.mit.edu 37 11 55861308 55861308 + Frame_Shift_Del DEL T T - rs112181516 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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 12 1368 --- --- --- --- OR4D9 390199 broad.mit.edu 37 11 59282479 59282479 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:59282479delT ENST00000329328.3 + 1 94 c.94delT c.(94-96)ttfs p.F32fs NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 TACCTTCCTGTTTTTGGTGTA 0.428 7 1305 --- --- --- --- CCDC86 79080 broad.mit.edu 37 11 60610038 60610038 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:60610038delG ENST00000227520.5 + 1 495 c.441delG c.(439-441)ccfs p.P147fs RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA NM_024098.3 NP_077003.1 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 147 Pro-rich. interspecies interaction between organisms nucleus endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10 AGCTGACCCCGGGGGCCCCCC 0.642 7 622 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183765 61183767 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:61183765_61183767delAGG ENST00000340437.4 - 6 984_986 c.904_906delCCT c.(904-906)del p.P302del CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del|CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 259 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 AGTGGATACCAGGAGGAGGAGGA 0.611 9 478 --- --- --- --- SLC3A2 6520 broad.mit.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:62649529delA ENST00000377892.1 + 6 1209 c.985delA c.(985-987)aafs p.K331fs SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000535296.1_Frame_Shift_Del_p.K269fs|SLC3A2_ENST00000377889.2_Frame_Shift_Del_p.K238fs|SLC3A2_ENST00000377890.2_Frame_Shift_Del_p.K300fs|SLC3A2_ENST00000377891.2_Frame_Shift_Del_p.K301fs|SLC3A2_ENST00000338663.7_Frame_Shift_Del_p.K199fs P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 300 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding p.K331fs*31(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 GCAATCGGCTAAAAAAAAGAG 0.463 7 628 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63149668 63149669 + Frame_Shift_Ins INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:63149668_63149669insA ENST00000279178.3 + 6 1241_1242 c.992_993insA c.(991-993)gcafs p.A331fs SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 331 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGGAGGCAGCACAAAAAAAAA 0.406 9 958 --- --- --- --- PPFIA1 8500 broad.mit.edu 37 11 70194407 70194407 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:70194407delC ENST00000253925.7 + 16 2259 c.2044delC c.(2044-2046)ccfs p.P683fs PPFIA1_ENST00000389547.3_Frame_Shift_Del_p.P683fs|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 683 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GAGCTCCATTCCCCCCTACCC 0.557 7 2298 --- --- --- --- INPPL1 3636 broad.mit.edu 37 11 71948209 71948209 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:71948209delC ENST00000541756.1 + 26 3125 c.2195delC c.(2194-2196)gcfs p.A732fs INPPL1_ENST00000538751.1_Frame_Shift_Del_p.A732fs|INPPL1_ENST00000298229.2_Frame_Shift_Del_p.A974fs O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 974 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding p.P977fs*7(1) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GGGGTGGCGGCCCCCCCACCC 0.637 8 1102 --- --- --- --- MRPL48 51642 broad.mit.edu 37 11 73555855 73555857 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:73555855_73555857delAAG ENST00000535529.1 + 6 363_365 c.151_153delAAG c.(151-153)del p.K54del MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000310614.7_In_Frame_Del_p.K72del Q96GC5 RM48_HUMAN mitochondrial ribosomal protein L48 72 translation mitochondrial ribosome protein binding|structural constituent of ribosome kidney(1) 1 TCTTCAGCCCAAGAAGAAGAAGG 0.305 7 458 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407165 89407165 + RNA DEL T T - rs112016970 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:89407165delT ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CATCAATGACTTTTTTTTTTT 0.303 19 107 --- --- --- --- MRE11A 4361 broad.mit.edu 37 11 94153333 94153335 + In_Frame_Del DEL ATC ATC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:94153333_94153335delATC ENST00000323929.3 - 20 2305_2307 c.2083_2085delGAT c.(2083-2085)del p.D695del MRE11A_ENST00000393241.4_In_Frame_Del_p.D694del|MRE11A_ENST00000407439.3_In_Frame_Del_p.D698del|MRE11A_ENST00000323977.3_In_Frame_Del_p.D667del NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 695 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) TCATAAAAGGATCATCATCATCA 0.325 Homologous recombination Ataxia-Telangiectasia-Like Disorder 7 573 --- --- --- --- CASP5 838 broad.mit.edu 37 11 104874010 104874011 + Frame_Shift_Ins INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:104874010_104874011insT ENST00000393141.2 - 4 603_604 c.572_573insA c.(571-573)acafs p.T191fs CASP5_ENST00000393139.2_Intron|CASP5_ENST00000418434.1_Frame_Shift_Ins_p.T36fs|CASP5_ENST00000260315.3_Frame_Shift_Ins_p.T178fs|CASP5_ENST00000531367.1_Frame_Shift_Ins_p.T36fs|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.T120fs|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.T191fs NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 178 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) CCTCATCATGATTTTTTTTACA 0.401 8 1067 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108559769 108559769 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:108559769delT ENST00000526794.1 + 7 987 c.955delT c.(955-957)ttfs p.F320fs DDX10_ENST00000322536.3_Frame_Shift_Del_p.F320fs Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 320 Helicase C-terminal. 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) GAGCATTGTATTTTTTTCCAG 0.353 T NUP98 AML* 9 2118 --- --- --- --- CD3G 917 broad.mit.edu 37 11 118220583 118220583 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:118220583delA ENST00000532917.1 + 3 273 c.205delA c.(205-207)aafs p.K71fs CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs|CD3G_ENST00000532903.1_3'UTR NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 71 Ig-like. establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) AACTGAAGATAAAAAAAAATG 0.403 17 544 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:119149356_119149358delATG ENST00000264033.4 + 9 1740_1742 c.1364_1366delATG c.(1363-1368)tat>t p.YD455del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 455 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCCAAATTATGATGATGATGA 0.473 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 9 504 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 12 208 --- --- --- --- WNT5B 81029 broad.mit.edu 37 12 1740530 1740532 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:1740530_1740532delCTG ENST00000397196.2 + 2 242_244 c.10_12delCTG c.(10-12)del p.L7del WNT5B_ENST00000310594.3_In_Frame_Del_p.L7del|WNT5B_ENST00000542408.1_In_Frame_Del_p.L7del|WNT5B_ENST00000537031.1_In_Frame_Del_p.L7del NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 7 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) CATGCCCAGCCTGCTGCTGCTGT 0.601 9 1422 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:6711546delT ENST00000309577.6 - 3 381 c.218delA c.(217-219)agfs p.K73fs CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 73 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACTCACCTCCTTTTTTTGGCG 0.468 8 1988 --- --- --- --- C1S 716 broad.mit.edu 37 12 7173239 7173239 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:7173239delA ENST00000406697.1 + 10 1464 c.836delA c.(835-837)cafs p.Q279fs C1S_ENST00000402681.3_Frame_Shift_Del_p.Q112fs|C1S_ENST00000360817.5_Frame_Shift_Del_p.Q279fs|C1S_ENST00000328916.3_Frame_Shift_Del_p.Q279fs P09871 C1S_HUMAN complement component 1, s subcomponent 279 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity p.W283fs*14(2) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) CTAACAGGGCAAAAAAAGGGC 0.423 8 695 --- --- --- --- FOXJ2 55810 broad.mit.edu 37 12 8200612 8200614 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:8200612_8200614delCAG ENST00000162391.3 + 7 2097_2099 c.952_954delCAG c.(952-954)del p.Q321del FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q321del NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 321 Poly-Gln. embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) GTCCCAGCCACAGCAGCAGCAGG 0.635 7 362 --- --- --- --- PLCZ1 89869 broad.mit.edu 37 12 18841025 18841025 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:18841025delT ENST00000447925.2 - 13 1852 c.1583delA c.(1582-1584)atfs p.N528fs PLCZ1_ENST00000534932.1_Frame_Shift_Del_p.N11fs|PLCZ1_ENST00000538330.1_Frame_Shift_Del_p.N312fs|PLCZ1_ENST00000539875.1_Frame_Shift_Del_p.N337fs|PLCZ1_ENST00000435379.1_Frame_Shift_Del_p.N335fs|PLCZ1_ENST00000541695.1_Frame_Shift_Del_p.N393fs|PLCZ1_ENST00000266505.7_Frame_Shift_Del_p.N530fs NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 530 C2. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GAGCTCACCATTTTTTTTAAT 0.294 7 636 --- --- --- --- PLEKHA5 54477 broad.mit.edu 37 12 19514517 19514518 + Splice_Site INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:19514517_19514518insA ENST00000538714.1 + 25 3165_3166 c.3159_splice c.e25-1 p.*1054_splice PLEKHA5_ENST00000355397.3_Splice_Site_p.*1054_splice|PLEKHA5_ENST00000424268.1_Splice_Site_p.*985_splice|PLEKHA5_ENST00000317589.4_Splice_Site_p.*1059_splice|PLEKHA5_ENST00000299275.6_Splice_Site_p.*996_splice|PLEKHA5_ENST00000359180.3_Splice_Site_p.*940_splice|PLEKHA5_ENST00000429027.2_Splice_Site_p.*1162_splice|PLEKHA5_ENST00000543806.1_Splice_Site_p.*978_splice|PLEKHA5_ENST00000539256.1_Splice_Site_p.*754_splice NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 996 1-phosphatidylinositol binding|protein binding p.T1160fs*17(1)|p.T999fs*17(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ATTCTACAGTTAAAAAAAACTG 0.248 7 258 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 64 2853 --- --- --- --- KRT77 374454 broad.mit.edu 37 12 53097076 53097078 + In_Frame_Del DEL CCA CCA - rs149726101 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:53097076_53097078delCCA ENST00000341809.3 - 1 169_171 c.141_143delTGG c.(139-144)gga>gg p.GG47del KRT77_ENST00000537195.1_5'UTR NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 47 Head. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 GATCCCATATCCACCACCACCAC 0.552 7 560 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 18 1335 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88524078 88524079 + Frame_Shift_Ins INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:88524078_88524079insT ENST00000552810.1 - 9 978_979 c.635_636insA c.(634-636)atafs p.I212fs CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 212 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TAAGCTCATAGTTTTTTTTAGA 0.317 8 1227 --- --- --- --- SYCP3 50511 broad.mit.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:102122901delT ENST00000392927.3 - 8 774 c.643delA c.(643-645)ttfs p.I215fs SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 215 Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TCCATCATAATTTTTTTTTGC 0.259 10 251 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 9 1100 --- --- --- --- P2RX7 5027 broad.mit.edu 37 12 121603929 121603929 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:121603929delT ENST00000328963.5 + 6 627 c.173delT c.(172-174)atfs p.I58fs P2RX7_ENST00000377162.2_Intron|P2RX7_ENST00000546057.1_Frame_Shift_Del_p.I228fs|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000535250.1_Frame_Shift_Del_p.I138fs|P2RX7_ENST00000443520.3_3'UTR A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 228 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAGTGTCCCATTTTCCGACTA 0.438 7 1864 --- --- --- --- HPD 3242 broad.mit.edu 37 12 122281717 122281718 + Frame_Shift_Del DEL CT CT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:122281717_122281718delCT ENST00000543163.1 - 13 1180_1181 c.735_736delAG c.(733-738)aggcfs p.RG245fs HPD_ENST00000289004.4_Frame_Shift_Del_p.RG284fs NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 284 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) AACTCCAGGCCTCTCTCTCTCA 0.535 7 525 --- --- --- --- MPHOSPH9 10198 broad.mit.edu 37 12 123706321 123706322 + Frame_Shift_Ins INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:123706321_123706322insA ENST00000606320.1 - 5 675_676 c.469_470insT c.(469-471)tctfs p.S157fs MPHOSPH9_ENST00000392425.3_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000541076.2_Frame_Shift_Ins_p.S127fs|MPHOSPH9_ENST00000302349.5_Frame_Shift_Ins_p.S5fs Q99550 MPP9_HUMAN M-phase phosphoprotein 9 5 M phase of mitotic cell cycle centriole|Golgi membrane p.S5C(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) ACTGCTTAGAGAAAAAAAACCC 0.371 8 577 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 413 --- --- --- --- TMEM132B 114795 broad.mit.edu 37 12 125834096 125834096 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:125834096delT ENST00000299308.3 + 2 159 c.151delT c.(151-153)ttfs p.F52fs TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 52 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGAGGAGTCCTTTTTCCTTAA 0.527 9 1426 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 24 543 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25517701 25517702 + RNA INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr13:25517701_25517702insT ENST00000429698.1 - 0 374 ACCATTTGCTATTTTTTTTTCT 0.426 18 601 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27250862 27250863 + Splice_Site DEL GT GT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr13:27250862_27250863delGT ENST00000335327.5 + 7 894 c.e7+1 WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGATACTAGGTGTGTGTGTGT 0.475 8 708 --- --- --- --- GSX1 219409 broad.mit.edu 37 13 28367927 28367929 + In_Frame_Del DEL GGC GGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr13:28367927_28367929delGGC ENST00000302945.2 + 2 685_687 c.637_639delGGC c.(637-639)del p.G218del NM_145657.1 NP_663632.1 Q9H4S2 GSX1_HUMAN GS homeobox 1 218 Poly-Gly. positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) CAACCATCgtggcggcggcggcg 0.631 12 461 --- --- --- --- B3GALTL 145173 broad.mit.edu 37 13 31803392 31803392 + Frame_Shift_Del DEL A A - rs141154947 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr13:31803392delA ENST00000343307.4 + 4 380 c.231delA c.(229-231)ttfs p.L77fs NM_194318.3 NP_919299.3 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 77 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) CAGAGCAGTTAAAAAAAAGCA 0.373 8 492 --- --- --- --- EEF1DP3 0 broad.mit.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr13:32527507_32527508delGT ENST00000428783.1 + 0 1207_1208 TCTGGCCTGAGTGTGTGTGTGT 0.460 11 406 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46542016 46542017 + Frame_Shift_Del DEL CT CT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr13:46542016_46542017delCT ENST00000242848.4 - 15 4291_4292 c.3943_3944delAG c.(3943-3945)gfs p.R1316fs ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs|ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1316 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) cgtatctctcctctctctctcg 0.495 14 628 --- --- --- --- SLAIN1 122060 broad.mit.edu 37 13 78320722 78320722 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr13:78320722delA ENST00000466548.1 + 5 950 c.924delA c.(922-924)ggfs p.G308fs SLAIN1_ENST00000418532.1_Frame_Shift_Del_p.G89fs|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000488699.1_Frame_Shift_Del_p.G166fs|SLAIN1_ENST00000351546.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000358679.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000267219.8_Frame_Shift_Del_p.G89fs NM_001242868.1 NP_001229797.1 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 308 breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) TGAGTTCAGGAAAAAAAGGGA 0.388 9 784 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88329794 88329796 + In_Frame_Del DEL CGG CGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr13:88329794_88329796delCGG ENST00000325089.6 + 2 2370_2372 c.2151_2153delCGG c.(2149-2154)tac>ta p.YG717del SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 717 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACAGCGTGTACGGCGGCGGCGGC 0.645 7 532 --- --- --- --- ARGLU1 55082 broad.mit.edu 37 13 107219953 107219955 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr13:107219953_107219955delCTC ENST00000400198.3 - 1 557_559 c.313_315delGAG c.(313-315)del p.E105del NM_018011.3 NP_060481.3 Q9NWB6 ARGL1_HUMAN arginine and glutamate rich 1 105 Glu-rich. large_intestine(1)|lung(5)|pancreas(1) 7 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) CCGCTTTCTTCTCCTCCTCCTCT 0.714 7 952 --- --- --- --- OR4L1 122742 broad.mit.edu 37 14 20528881 20528881 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:20528881delA ENST00000315683.1 + 1 678 c.678delA c.(676-678)ccfs p.P226fs NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TCAGTGTACCAAAAAAATCAT 0.438 8 1117 --- --- --- --- RNASE7 84659 broad.mit.edu 37 14 21511566 21511566 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:21511566delA ENST00000298690.4 + 2 672 c.415delA c.(415-417)aafs p.K140fs NDRG2_ENST00000403829.3_Intron NM_032572.3 NP_115961.2 Q9H1E1 RNAS7_HUMAN ribonuclease, RNase A family, 7 140 defense response to bacterium|innate immune response extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 6 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08) GBM - Glioblastoma multiforme(265;0.0191) GCCTCCCCAGAAAAAGGACTC 0.502 8 1078 --- --- --- --- SALL2 6297 broad.mit.edu 37 14 21991334 21991336 + In_Frame_Del DEL GGT GGT - rs113881459 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:21991334_21991336delGGT ENST00000327430.3 - 2 2820_2822 c.2526_2528delACC c.(2524-2529)cct>cc p.PP842del SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 842 Poly-Pro. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CAGGCTGTCAGGTGGTGGTGGTG 0.571 9 577 --- --- --- --- MMP14 4323 broad.mit.edu 37 14 23312996 23312996 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:23312996delA ENST00000311852.6 + 6 1189 c.928delA c.(928-930)aafs p.K310fs MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 310 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TGATAAACCCAAAAACCCCAC 0.577 8 1319 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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 33 802 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 12 1090 --- --- --- --- LRRC16B 90668 broad.mit.edu 37 14 24532702 24532703 + Frame_Shift_Ins INS - - C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:24532702_24532703insC ENST00000342740.5 + 31 3093_3094 c.2939_2940insC c.(2938-2940)cccfs p.P980fs LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.P76fs NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 980 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GGGAGGCCCCGCCCCCCCAGGA 0.594 7 673 --- --- --- --- REC8 9985 broad.mit.edu 37 14 24646921 24646921 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:24646921delC ENST00000311457.3 + 12 1417 c.818delC c.(817-819)acfs p.T273fs REC8_ENST00000559919.1_Frame_Shift_Del_p.T273fs O95072 REC8_HUMAN REC8 meiotic recombination protein 274 Glu-rich.|Pro-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) GCAGAGGTGACCCCCCCGGAG 0.612 7 648 --- --- --- --- ADCY4 196883 broad.mit.edu 37 14 24803757 24803759 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:24803757_24803759delCAG ENST00000310677.4 - 2 213_215 c.100_102delCTG c.(100-102)del p.L34del RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000554068.2_In_Frame_Del_p.L34del|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_In_Frame_Del_p.L34del NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 34 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GCACGATCCCCAGCAGCAGCAGC 0.700 7 67 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45642288 45642289 + Frame_Shift_Del DEL CT CT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:45642288_45642289delCT ENST00000267430.5 + 13 2276_2277 c.2191_2192delCT c.(2191-2193)cfs p.L731fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 731 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AATTCATCAACTCTCTCTCTCT 0.347 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 13 688 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45645955 45645955 + Frame_Shift_Del DEL A A - rs143681767 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:45645955delA ENST00000267430.5 + 14 4083 c.3998delA c.(3997-3999)cafs p.Q1333fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.Q1307fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1333 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTACCAGTGCAAAAAAAAGTT 0.328 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 8 389 --- --- --- --- OTX2 5015 broad.mit.edu 37 14 57271049 57271049 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:57271049delG ENST00000339475.5 - 4 406 c.130delC c.(130-132)ggfs p.R44fs OTX2_ENST00000554559.1_Intron|OTX2_ENST00000554788.1_Intron|OTX2_ENST00000555006.1_Frame_Shift_Del_p.R36fs|OTX2_ENST00000408990.3_Frame_Shift_Del_p.R36fs NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3 NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1 P32243 OTX2_HUMAN orthodenticle homeobox 2 36 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding p.R44fs*52(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) CGCTGTTTCCGGGGGGTGGCT 0.632 7 456 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64488704 64488704 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:64488704delA ENST00000358025.3 + 37 5712 c.5482delA c.(5482-5484)aafs p.K1829fs SYNE2_ENST00000344113.4_Frame_Shift_Del_p.K1829fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.K1829fs NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1829 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATTTAATACCAAAAAAAGTGT 0.318 9 861 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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 25 1182 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514338 75514338 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:75514338delT ENST00000355774.2 - 2 2236 c.2021delA c.(2020-2022)atfs p.N674fs MLH3_ENST00000238662.7_Frame_Shift_Del_p.N674fs|MLH3_ENST00000556740.1_Frame_Shift_Del_p.N674fs|MLH3_ENST00000556257.1_Frame_Shift_Del_p.N674fs|MLH3_ENST00000380968.2_5'UTR NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 674 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) CGTTCTGCAATTTTTTTTGTT 0.348 Mismatch excision repair (MMR) 8 614 --- --- --- --- FLVCR2 55640 broad.mit.edu 37 14 76112753 76112755 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:76112753_76112755delGAG ENST00000238667.4 + 10 1875_1877 c.1519_1521delGAG c.(1519-1521)del p.E511del FLVCR2_ENST00000556856.1_In_Frame_Del_p.RG69del|FLVCR2_ENST00000539311.1_In_Frame_Del_p.E306del|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000555027.1_In_Frame_Del_p.E226del NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 511 Poly-Glu. transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) GAAACTCCAAGAGGAGGAGGAGG 0.542 10 524 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93720048 93720048 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:93720048delT ENST00000334746.5 - 7 2004 c.1697delA c.(1696-1698)atfs p.N566fs BTBD7_ENST00000393170.2_Frame_Shift_Del_p.N140fs|BTBD7_ENST00000554565.1_Frame_Shift_Del_p.N215fs NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 566 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GATGCCAGCATTTTTTTGCCG 0.388 10 1106 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93761193 93761193 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:93761193delT ENST00000334746.5 - 3 480 c.173delA c.(172-174)agfs p.K58fs BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000554565.1_Intron NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 58 p.K58fs*44(2)|p.R59fs*14(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AGAGGTTCTCTTTTTTTTGTC 0.438 17 1116 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94517596 94517598 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:94517596_94517598delTCT ENST00000330836.5 - 9 2650_2652 c.2519_2521delAGA c.(2518-2523)aca>a p.KT840del DDX24_ENST00000553400.1_5'UTR|DDX24_ENST00000544005.1_In_Frame_Del_p.KT590del|DDX24_ENST00000555054.1_In_Frame_Del_p.KT797del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 840 Poly-Lys. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) GGCTTCTTTGTCTTCTTCTTCTT 0.512 OREG0022891 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 742 --- --- --- --- CCNK 8812 broad.mit.edu 37 14 99969244 99969246 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:99969244_99969246delCAG ENST00000389879.5 + 8 1057_1059 c.934_936delCAG c.(934-936)del p.Q315del CCNK_ENST00000555049.1_In_Frame_Del_p.Q315del NM_001099402.1 NP_001092872.1 O75909 CCNK_HUMAN cyclin K 315 Poly-Gln. cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding NS(1)|endometrium(2)|lung(3) 6 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) GCAACCAGCCCAGCAGCAGCAGC 0.621 11 942 --- --- --- --- BEGAIN 57596 broad.mit.edu 37 14 101005271 101005273 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:101005271_101005273delCCT ENST00000556751.1 - 5 4027_4029 c.623_625delAGG c.(622-627)gcc>g p.EA210del BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 274 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GCCGCCTCGGCCTCCTCCTCCTC 0.724 13 186 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 10 2127 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25324325 25324325 + RNA DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:25324325delT ENST00000549804.2 + 0 1377 ACAACTGTCATTTTTTTTGAT 0.478 12 463 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25330647 25330648 + RNA DEL AG AG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:25330647_25330648delAG ENST00000546682.1 + 0 453 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 TACAGGGGCTAGAGAGAGAGGG 0.480 7 1022 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25444578 25444578 + RNA DEL G G - rs138002016 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:25444578delG ENST00000424208.1 + 0 1811 SNHG14_ENST00000424333.1_RNA NR_003305.1 TGCATGGGGCGGGGGGTGCCC 0.532 8 1772 --- --- --- --- UBE3A 7337 broad.mit.edu 37 15 25601871 25601871 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:25601871delT ENST00000232165.3 - 8 2582 c.1926delA c.(1924-1926)aafs p.K642fs UBE3A_ENST00000397954.2_Frame_Shift_Del_p.K645fs|UBE3A_ENST00000438097.1_Frame_Shift_Del_p.K622fs|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Frame_Shift_Del_p.K622fs|UBE3A_ENST00000428984.2_Frame_Shift_Del_p.K622fs NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 645 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GAAAAGTTCCTTTTTTCCCCA 0.338 8 1654 --- --- --- --- OCA2 4948 broad.mit.edu 37 15 28200305 28200305 + Splice_Site DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:28200305delT ENST00000354638.3 - 17 1996 c.1842_splice c.e17+1 p.K614_splice OCA2_ENST00000382996.2_Splice_Site_p.K614_splice|OCA2_ENST00000353809.5_Splice_Site_p.K590_splice NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 614 K -> E (in OCA2).|K -> N (in OCA2). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCTGGGTACCTTTTTTTGGAG 0.443 Oculocutaneous Albinism 12 1102 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 8 860 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 33962735 33962737 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:33962735_33962737delGGA ENST00000389232.4 + 38 5908_5910 c.5838_5840delGGA c.(5836-5841)acg>ac p.TE1946del RYR3_ENST00000415757.3_In_Frame_Del_p.TE1946del NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1946 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.T1946T(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGCAGCCGACGGAGGAGGAGGAG 0.453 7 860 --- --- --- --- EIF2AK4 440275 broad.mit.edu 37 15 40282508 40282508 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:40282508delT ENST00000263791.5 + 16 2604 c.2561delT c.(2560-2562)atfs p.I854fs EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 854 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCTGTCAACATTTTTTTGGAT 0.358 8 1978 --- --- --- --- OIP5 11339 broad.mit.edu 37 15 41624705 41624705 + Frame_Shift_Del DEL C C - rs142464462 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:41624705delC ENST00000220514.3 - 1 114 c.55delG c.(55-57)acfs p.D19fs NM_007280.1 NP_009211.1 O43482 MS18B_HUMAN Opa interacting protein 5 19 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding endometrium(3)|lung(1)|urinary_tract(1) 5 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) CCACAAAAGTCCCCCCGGGGC 0.657 7 1162 --- --- --- --- ADAL 161823 broad.mit.edu 37 15 43641115 43641115 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:43641115delA ENST00000422466.2 + 11 1218 c.644delA c.(643-645)cafs p.Q215fs ADAL_ENST00000389651.4_Frame_Shift_Del_p.Q215fs|ADAL_ENST00000428046.3_Frame_Shift_Del_p.Q188fs|ADAL_ENST00000562188.1_Frame_Shift_Del_p.Q215fs Q6DHV7 ADAL_HUMAN adenosine deaminase-like 215 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) ATTCCAAACCAAAAAAAAGAA 0.453 10 613 --- --- --- --- CTDSPL2 51496 broad.mit.edu 37 15 44778873 44778874 + Frame_Shift_Ins INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:44778873_44778874insT ENST00000260327.4 + 4 1013_1014 c.450_451insT c.(448-453)aattttfs p.NF150fs CTDSPL2_ENST00000558966.1_Frame_Shift_Ins_p.NF150fs|CTDSPL2_ENST00000396780.1_Frame_Shift_Ins_p.NF150fs|CTDSPL2_ENST00000558373.1_Frame_Shift_Ins_p.NF150fs NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 150 phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) CTGTCTTCAACTTTTTTTCACC 0.297 7 1032 --- --- --- --- CCPG1 9236 broad.mit.edu 37 15 55651780 55651781 + Frame_Shift_Del DEL TA TA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:55651780_55651781delTA ENST00000310958.6 - 8 2488_2489 c.2190_2191delTA c.(2188-2193)tagafs p.YR730fs DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Frame_Shift_Del_p.YR347fs|CCPG1_ENST00000569205.1_Frame_Shift_Del_p.YR730fs|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.YR730fs NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 730 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) AAGAAGTGTCTATATATATATT 0.332 9 289 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62244050 62244050 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:62244050delT ENST00000261517.5 - 39 4502 c.4429delA c.(4429-4431)ttfs p.I1477fs VPS13C_ENST00000395896.4_Frame_Shift_Del_p.I1477fs|VPS13C_ENST00000249837.3_Frame_Shift_Del_p.I1434fs|VPS13C_ENST00000395898.3_Frame_Shift_Del_p.I1434fs NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1477 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TGCATACTAATTTTTTTTAGA 0.333 9 387 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65943128 65943130 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:65943128_65943130delGAG ENST00000261892.6 + 7 2928_2930 c.2641_2643delGAG c.(2641-2643)del p.E890del SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 890 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 gcaggaggaagaggaggaggagg 0.562 14 237 --- --- --- --- SNAPC5 10302 broad.mit.edu 37 15 66786799 66786801 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:66786799_66786801delTCC ENST00000316634.5 - 3 351_353 c.270_272delGGA c.(268-273)gaa>ga p.EE94del SNAPC5_ENST00000307979.7_In_Frame_Del_p.EE64del|SNAPC5_ENST00000566658.1_3'UTR|SNAPC5_ENST00000563480.2_In_Frame_Del_p.EE94del|SNAPC5_ENST00000395589.2_In_Frame_Del_p.EE94del O75971 SNPC5_HUMAN small nuclear RNA activating complex, polypeptide 5, 19kDa 94 Poly-Glu. transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1) 2 ttcttcctcttcctcctcctcct 0.463 9 845 --- --- --- --- ADPGK 83440 broad.mit.edu 37 15 73044826 73044827 + Frame_Shift_Ins INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:73044826_73044827insT ENST00000311669.8 - 7 1439_1440 c.1346_1347insA c.(1345-1347)accfs p.T449fs ADPGK_ENST00000456471.2_Frame_Shift_Ins_p.T175fs NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 450 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 CTACTACTGGCTTGTTTGGGTT 0.490 8 1236 --- --- --- --- CPLX3 594855 broad.mit.edu 37 15 75122558 75122560 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:75122558_75122560delGAG ENST00000395018.4 + 3 497_499 c.340_342delGAG c.(340-342)del p.E118del RP11-414J4.2_ENST00000564823.1_RNA NM_001030005.2 NP_001025176.1 Q8WVH0 CPLX3_HUMAN complexin 3 118 cell junction|synapse syntaxin binding large_intestine(2)|lung(2) 4 GGAGGACACAGAGGAGGAGGAGG 0.616 14 717 --- --- --- --- GOLGA6C 653641 broad.mit.edu 37 15 75562489 75562489 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:75562489delC ENST00000300576.5 + 18 2031 c.2031delC c.(2029-2031)aafs p.N677fs NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C 677 ovary(1) 1 CCCATGACAACCCCCCGGTAC 0.602 7 1252 --- --- --- --- RP11-24M17.5 0 broad.mit.edu 37 15 76074745 76074746 + RNA INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:76074745_76074746insA ENST00000395215.3 + 0 800 TCTGACCCTTCAGCCCCCactt 0.520 9 539 --- --- --- --- IREB2 3658 broad.mit.edu 37 15 78755395 78755395 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:78755395delT ENST00000258886.8 + 3 387 c.238delT c.(238-240)ttfs p.F81fs IREB2_ENST00000560440.1_Frame_Shift_Del_p.F81fs NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 81 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TGAAGTGCCCTTTTTCCCTGC 0.358 7 1425 --- --- --- --- MESDC2 23184 broad.mit.edu 37 15 81282062 81282064 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:81282062_81282064delAGC ENST00000261758.4 - 1 155_157 c.69_71delGCT c.(67-72)cta>ct p.LL25del NM_015154.1 NP_055969.1 Q14696 MESD_HUMAN mesoderm development candidate 2 25 Chaperone domain (By similarity). mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 TGGTagcagtagcagcagcagca 0.675 7 251 --- --- --- --- IL16 3603 broad.mit.edu 37 15 81592162 81592164 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:81592162_81592164delCCT ENST00000394660.2 + 14 2855_2857 c.2495_2497delCCT c.(2494-2499)gcc>g p.AS832del IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_In_Frame_Del_p.AS131del|IL16_ENST00000302987.4_In_Frame_Del_p.AS832del NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 832 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity p.S792delS(1)|p.S838delS(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CACATCCGGGcctcctcctcctc 0.586 8 373 --- --- --- --- UBE2Q2P1 0 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 17 48 --- --- --- --- MFGE8 4240 broad.mit.edu 37 15 89453139 89453139 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:89453139delT ENST00000539437.1 - 3 201 c.65delA c.(64-66)acfs p.N22fs MFGE8_ENST00000566497.1_Frame_Shift_Del_p.N30fs|MFGE8_ENST00000268150.8_Frame_Shift_Del_p.N30fs|MFGE8_ENST00000268151.7_Frame_Shift_Del_p.N30fs|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000559997.1_Intron Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein 30 angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization p.N30T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) GTGGCAGGGGTTTTTGGAACA 0.547 7 1079 --- --- --- --- IQGAP1 8826 broad.mit.edu 37 15 91019925 91019925 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:91019925delA ENST00000268182.5 + 24 2939 c.2815delA c.(2815-2817)aafs p.K940fs IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 940 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAAACTTACCAAAAAAAATAA 0.363 8 897 --- --- --- --- MAN2A2 4122 broad.mit.edu 37 15 91462881 91462881 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:91462881delT ENST00000360468.3 + 22 3335 c.3317delT c.(3316-3318)ctfs p.L1106fs MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000559717.1_Frame_Shift_Del_p.L1106fs|MAN2A2_ENST00000431652.2_Frame_Shift_Del_p.L614fs|MAN2A2_ENST00000430376.2_Frame_Shift_Del_p.L296fs NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 1106 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CTGGGCAGCCTTTTCCATGGC 0.547 8 2372 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974509 93974510 + RNA DEL TC TC - rs57286078 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:93974509_93974510delTC ENST00000543286.1 + 0 545 TTGGCTGGGTTCtttttttttt 0.431 10 225 --- --- --- --- DNM1P46 0 broad.mit.edu 37 15 100340032 100340034 + RNA DEL AGA AGA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:100340032_100340034delAGA ENST00000341853.1 - 0 892_894 NR_003260.1 AGCAGCTCTGAGAAGATGAACTC 0.606 7 192 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292971 102292974 + RNA DEL CTCA CTCA - rs75843814 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:102292971_102292974delCTCA ENST00000561463.1 + 0 1017_1020 GATGCTGCTTCTCAGAGCTGCTGT 0.583 11 81 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 7 51 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102304934 102304936 + RNA DEL TCT TCT - rs72450638 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr15:102304934_102304936delTCT ENST00000561463.1 + 0 12980_12982 AAGGAGTTCATCTTCTCAGAGCT 0.586 11 165 --- --- --- --- Z97634.5 0 broad.mit.edu 37 16 437259 437260 + RNA DEL AT AT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:437259_437260delAT ENST00000412293.1 + 0 521 NR_024453.2 CTAATTCTAAATATATATATAT 0.421 10 182 --- --- --- --- WDR90 197335 broad.mit.edu 37 16 709106 709106 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:709106delC ENST00000549091.1 + 25 3124 c.3032delC c.(3031-3033)gcfs p.A1011fs WDR90_ENST00000293879.4_Frame_Shift_Del_p.A1011fs NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1011 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) TTCCCCGGGGCCCCCCCAGCC 0.657 8 816 --- --- --- --- BRICD5 283870 broad.mit.edu 37 16 2260586 2260588 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:2260586_2260588delCAG ENST00000328540.3 - 2 1231_1233 c.115_117delCTG c.(115-117)del p.L39del BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGGCcagcaccagcagcagcagc 0.660 8 270 --- --- --- --- C16orf71 146562 broad.mit.edu 37 16 4796953 4796955 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:4796953_4796955delGAG ENST00000299320.5 + 8 1685_1687 c.1207_1209delGAG c.(1207-1209)del p.E409del RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 409 p.E403delE(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 CTCTGACAGTGAGGAGGAGGAGG 0.611 7 120 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313074 5313076 + RNA DEL GGT GGT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:5313074_5313076delGGT ENST00000569895.1 + 0 304 GCAGggtgacggtggtggtggtg 0.483 15 267 --- --- --- --- MKL2 57496 broad.mit.edu 37 16 14334253 14334255 + In_Frame_Del DEL CAG CAG - rs146244364 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:14334253_14334255delCAG ENST00000571589.1 + 10 1163_1165 c.991_993delCAG c.(991-993)del p.Q334del MKL2_ENST00000318282.5_In_Frame_Del_p.Q334del|MKL2_ENST00000341243.5_In_Frame_Del_p.Q323del|MKL2_ENST00000573051.1_In_Frame_Del_p.Q283del|MKL2_ENST00000574045.1_In_Frame_Del_p.Q334del|MKL2_ENST00000572567.1_In_Frame_Del_p.Q323del NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 323 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCGCCTGCTCCAGCAGCAGCAGC 0.542 8 863 --- --- --- --- C16orf62 57020 broad.mit.edu 37 16 19580800 19580802 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:19580800_19580802delTCC ENST00000438132.3 + 3 487_489 c.439_441delTCC c.(439-441)del p.S153del C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 64 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTCTTCCACGTCCTCCTCCTCCT 0.562 18 601 --- --- --- --- RBBP6 5930 broad.mit.edu 37 16 24583566 24583568 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:24583566_24583568delAAG ENST00000319715.4 + 18 5611_5613 c.5179_5181delAAG c.(5179-5181)del p.K1733del RBBP6_ENST00000381039.3_In_Frame_Del_p.K893del|RBBP6_ENST00000348022.2_In_Frame_Del_p.K1699del NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1733 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) tcaggacagcaagaagaagaaga 0.473 10 272 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:28931200_28931202delCTG ENST00000358201.4 - 3 925_927 c.337_339delCAG c.(337-339)del p.Q113del RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 113 Poly-Gln. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTCACAGTCCTGCTGCTGCTGC 0.640 10 507 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 8 2523 --- --- --- --- CHD9 80205 broad.mit.edu 37 16 53358038 53358040 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:53358038_53358040delCAG ENST00000566029.1 + 39 8086_8088 c.7877_7879delCAG c.(7876-7881)aca>a p.TA2626del CHD9_ENST00000447540.1_In_Frame_Del_p.TA2627del|CHD9_ENST00000398510.3_In_Frame_Del_p.TA2642del|CHD9_ENST00000564845.1_In_Frame_Del_p.TA2626del Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2642 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GCAAAGGCCACAGCAGCAGCAGC 0.512 8 1236 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 24 759 --- --- --- --- CMTM1 113540 broad.mit.edu 37 16 66603929 66603930 + Frame_Shift_Ins INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:66603929_66603930insT ENST00000379500.2 + 2 590_591 c.523_524insT c.(523-525)tttfs p.F175fs CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000535705.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs|CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000332695.7_Intron NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 58 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) CTGCATTGTCGTTTTTTTTATT 0.347 10 1065 --- --- --- --- RANBP10 57610 broad.mit.edu 37 16 67763279 67763281 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:67763279_67763281delGAG ENST00000317506.3 - 10 1369_1371 c.1254_1256delCTC c.(1252-1257)tcg>tc p.SS420del RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 420 Ser-rich. p.S418S(2) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaagaggacgaggaggaggagg 0.567 12 361 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATCTAATcaacagcagcagcagc 0.473 9 382 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 27 807 --- --- --- --- AP1G1 164 broad.mit.edu 37 16 71803440 71803440 + Splice_Site DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:71803440delA ENST00000423132.2 - 7 921 c.e7-1 AP1G1_ENST00000299980.4_Intron|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000569748.1_Intron O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) GCTTGCTTTCAAAAAAAAATA 0.378 8 222 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 8 527 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77356311 77356311 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:77356311delA ENST00000282849.5 - 14 2503 c.2085delT c.(2083-2085)ttfs p.F695fs NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 695 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A696fs*18(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGGACATTGCAAAAAAAAATT 0.403 20 809 --- --- --- --- C16orf46 123775 broad.mit.edu 37 16 81095682 81095682 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:81095682delT ENST00000378611.4 - 3 387 c.272delA c.(271-273)agfs p.K91fs C16orf46_ENST00000299578.5_Frame_Shift_Del_p.K91fs|C16orf46_ENST00000444657.3_5'UTR|RP11-303E16.8_ENST00000564536.1_RNA NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 91 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 TACCCTCGCCTTTTTTGGTAT 0.592 7 1391 --- --- --- --- TAF1C 9013 broad.mit.edu 37 16 84213650 84213651 + Frame_Shift_Ins INS - - G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:84213650_84213651insG ENST00000567759.1 - 13 1782_1783 c.1600_1601insC c.(1600-1602)gtcfs p.V534fs TAF1C_ENST00000378541.4_Frame_Shift_Ins_p.V534fs|TAF1C_ENST00000566732.1_Frame_Shift_Ins_p.V508fs|TAF1C_ENST00000570117.1_Frame_Shift_Ins_p.V202fs|TAF1C_ENST00000541676.1_Frame_Shift_Ins_p.V441fs|TAF1C_ENST00000341690.6_Frame_Shift_Ins_p.V440fs NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 534 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding p.Q534fs*19(1) endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 AGGAAGAGACTGGGGGGGGCCT 0.663 10 399 --- --- --- --- ZC3H18 124245 broad.mit.edu 37 16 88677692 88677693 + Frame_Shift_Del DEL GA GA - rs145094173 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:88677692_88677693delGA ENST00000301011.5 + 8 1423_1424 c.1223_1224delGA c.(1222-1224)cfs p.R408fs ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.R432fs NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 408 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) gagcgggagcgagagagagaga 0.644 7 155 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 18 773 --- --- --- --- WSCD1 23302 broad.mit.edu 37 17 6012979 6012979 + Frame_Shift_Del DEL C C - rs41314099 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:6012979delC ENST00000574946.1 + 6 1292 c.902delC c.(901-903)acfs p.T301fs WSCD1_ENST00000573634.1_Frame_Shift_Del_p.T185fs|WSCD1_ENST00000317744.5_Frame_Shift_Del_p.T301fs|WSCD1_ENST00000539421.1_Frame_Shift_Del_p.T301fs|WSCD1_ENST00000574232.1_Frame_Shift_Del_p.T301fs Q658N2 WSCD1_HUMAN WSC domain containing 1 301 WSC 2. integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 GCTTACCCTACCCCCCGGTTC 0.562 9 2009 --- --- --- --- YBX2 51087 broad.mit.edu 37 17 7193599 7193599 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:7193599delG ENST00000007699.5 - 5 778 c.715delC c.(715-717)ggfs p.R239fs NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 239 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 TTGGGAGGCCGGGGGCCTCGC 0.622 9 2013 --- --- --- --- C17orf74 201243 broad.mit.edu 37 17 7329686 7329688 + In_Frame_Del DEL CGC CGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:7329686_7329688delCGC ENST00000333870.3 + 3 450_452 c.376_378delCGC c.(376-378)del p.R130del RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 130 Arg-rich. integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) CTGTGTTcgtcgccgccgccgcc 0.606 7 753 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 9 2135 --- --- --- --- WRAP53 55135 broad.mit.edu 37 17 7606722 7606722 + Frame_Shift_Del DEL C C - rs7640 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:7606722delC ENST00000316024.5 + 10 3913 c.1565delC c.(1564-1566)ggfs p.A522fs WRAP53_ENST00000534050.1_Frame_Shift_Del_p.A489fs|WRAP53_ENST00000396463.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000457584.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000431639.2_Frame_Shift_Del_p.A522fs Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 522 A -> G (in dbSNP:rs7640). positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding p.A522G(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 TGTGGGGGGGCGCCAGACTCC 0.582 8 623 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7796799 7796800 + Frame_Shift_Ins INS - - C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:7796799_7796800insC ENST00000380358.4 + 5 883_884 c.882_883insC c.(880-885)gccctcfs p.L295fs CHD3_ENST00000358181.4_Frame_Shift_Ins_p.L236fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.L236fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 236 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CCCCCATAGCACCCTCCGGACC 0.649 7 252 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7798765 7798765 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:7798765delC ENST00000380358.4 + 10 1790 c.1789delC c.(1789-1791)ccfs p.P598fs CHD3_ENST00000358181.4_Frame_Shift_Del_p.P539fs|CHD3_ENST00000330494.7_Frame_Shift_Del_p.P539fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 539 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) AGATGTCCCACCCCCCCGTCC 0.577 7 1033 --- --- --- --- CNTROB 116840 broad.mit.edu 37 17 7843518 7843519 + Frame_Shift_Del DEL GA GA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:7843518_7843519delGA ENST00000380262.3 + 9 2194_2195 c.1269_1270delGA c.(1267-1272)cggafs p.RR423fs CNTROB_ENST00000565740.1_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000563694.1_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000380255.3_Frame_Shift_Del_p.RR423fs NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 423 Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) ATACAGCTCGGAGAGAGAGAGA 0.579 10 976 --- --- --- --- NDEL1 81565 broad.mit.edu 37 17 8370271 8370273 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:8370271_8370273delCTC ENST00000334527.7 + 9 1165_1167 c.968_970delCTC c.(967-972)gct>g p.AP323del NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000380025.4_3'UTR NM_030808.4 NP_110435.1 Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 323 Interaction with CENPF.|Interaction with NEFL (By similarity). chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle large_intestine(6)|lung(4)|skin(3) 13 TTTGACCCCGCTCCTCCTCCTCC 0.576 8 993 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8397095 8397097 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:8397095_8397097delCCT ENST00000360416.3 - 32 4301_4303 c.4163_4165delAGG c.(4162-4167)gcc>g p.EA1388del MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|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 21 481 --- --- --- --- EPN2 22905 broad.mit.edu 37 17 19232949 19232950 + Frame_Shift_Ins INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:19232949_19232950insA ENST00000314728.5 + 9 1884_1885 c.1400_1401insA c.(1399-1401)taafs p.*467fs EPN2_ENST00000347697.2_Frame_Shift_Ins_p.*410fs|EPN2_ENST00000395618.3_Frame_Shift_Ins_p.*182fs|EPN2_ENST00000395626.1_Frame_Shift_Ins_p.*467fs|EPN2_ENST00000575595.1_Frame_Shift_Ins_p.*175fs|EPN2_ENST00000395620.2_Frame_Shift_Ins_p.*410fs|EPN2_ENST00000571254.1_Frame_Shift_Ins_p.*403fs NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 467 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding p.T470fs*19(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CTTCGGACTTCAAAAAAAACAG 0.396 13 649 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 17 402 --- --- --- --- SUZ12P 0 broad.mit.edu 37 17 29096087 29096087 + RNA DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:29096087delT ENST00000582557.1 + 0 1381 ATATTGGTAATTTTTTTTTTT 0.343 12 119 --- --- --- --- ASIC2 40 broad.mit.edu 37 17 31439005 31439005 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:31439005delC ENST00000225823.2 - 2 1661 c.789delG c.(787-789)ggfs p.G263fs RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000359872.6_Frame_Shift_Del_p.G212fs|ASIC2_ENST00000448983.1_5'UTR NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 212 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CGTTGCCTGTCCCCCCCTTGA 0.552 7 770 --- --- --- --- LIG3 3980 broad.mit.edu 37 17 33318740 33318740 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:33318740delC ENST00000378526.4 + 6 1225 c.1092delC c.(1090-1092)ttfs p.F364fs LIG3_ENST00000262327.5_Frame_Shift_Del_p.F364fs NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 364 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) GCAAGTCTTTCCCCCCAGCTG 0.542 Other BER factors 8 962 --- --- --- --- RP11-115K3.2 0 broad.mit.edu 37 17 36214141 36214141 + RNA DEL A A - rs76035088 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:36214141delA ENST00000590732.1 - 0 325 NR_024178.1 CAGCaaaattaaaaaaaaaaa 0.328 7 134 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978747 38978749 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:38978747_38978749delCTC ENST00000269576.5 - 1 98_100 c.89_91delGAG c.(88-93)gtg>g p.GV30del TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 30 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) AGGGATGACActcctcctcctcc 0.552 7 307 --- --- --- --- KLHL11 55175 broad.mit.edu 37 17 40011270 40011271 + Frame_Shift_Del DEL TC TC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:40011270_40011271delTC ENST00000319121.3 - 2 908_909 c.848_849delGA c.(847-849)afs p.R283fs NM_018143.1 NP_060613.1 Q9NVR0 KLH11_HUMAN kelch-like family member 11 283 BACK. extracellular region NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 Breast(137;0.00156) CTTCAAAGTATCTCTCTCTCTC 0.401 14 450 --- --- --- --- CCDC103 388389 broad.mit.edu 37 17 42980014 42980015 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:42980014_42980015delAG ENST00000417826.2 + 4 653_654 c.558_559delAG c.(556-561)gcagfs p.AE186fs FAM187A_ENST00000331733.4_5'UTR|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs|FAM187A_ENST00000412523.2_Intron NM_001258399.1|NM_213607.2 NP_001245328.1|NP_998772.1 Q8IW40 CC103_HUMAN coiled-coil domain containing 103 186 p.E187K(1) endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1) 7 Prostate(33;0.109) TGAGCCGGGCAGAGAGAGAGAG 0.644 9 444 --- --- --- --- PLCD3 113026 broad.mit.edu 37 17 43192760 43192762 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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 12 170 --- --- --- --- RP11-156P1.3 0 broad.mit.edu 37 17 45128628 45128629 + RNA INS - - T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:45128628_45128629insT ENST00000575173.1 - 0 418 ATTCTGGTGTGtttttttttgt 0.337 10 304 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 48 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTGCTCGAAAGGAGGAGGAGGA 0.596 17 783 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:56056605_56056607delTGC ENST00000584396.1 - 5 1105_1107 c.1017_1019delGCA c.(1015-1020)caa>ca p.QQ343del VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 352 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ttgttgttgttgctgctgctgct 0.463 7 1451 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 21 848 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65822267 65822269 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:65822267_65822269delGAG ENST00000321892.4 + 1 488_490 c.427_429delGAG c.(427-429)del p.E148del BPTF_ENST00000424123.3_In_Frame_Del_p.E9del|BPTF_ENST00000306378.6_In_Frame_Del_p.E148del|BPTF_ENST00000335221.5_In_Frame_Del_p.E148del Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 148 Glu-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding p.E143*(2) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) catggtctccgaggaggaggagg 0.635 9 176 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65940454 65940456 + In_Frame_Del DEL CAC CAC - rs143937013 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:65940454_65940456delCAC ENST00000321892.4 + 22 7105_7107 c.7044_7046delCAC c.(7042-7047)agc>ag p.ST2348del BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del|BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del|BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2348 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CCACAGCCAGCACCACCACCACC 0.542 11 1000 --- --- --- --- SLC16A6 9120 broad.mit.edu 37 17 66267125 66267125 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:66267125delA ENST00000327268.4 - 6 1340 c.1176delT c.(1174-1176)ttfs p.F392fs ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Frame_Shift_Del_p.F392fs NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 392 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) CCATAAACCCAAAAAATATGC 0.438 7 993 --- --- --- --- CDC42EP4 23580 broad.mit.edu 37 17 71281585 71281587 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:71281585_71281587delTCC ENST00000335793.3 - 2 1447_1449 c.1053_1055delGGA c.(1051-1056)gat>ga p.ED351del CDC42EP4_ENST00000439510.2_In_Frame_Del_p.ED281del|CDC42EP4_ENST00000581014.1_3'UTR Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 351 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) ACGGATTTCATCCTCCTCCTCCT 0.640 7 938 --- --- --- --- KIAA0195 9772 broad.mit.edu 37 17 73482037 73482039 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:73482037_73482039delTGC ENST00000314256.7 + 4 624_626 c.230_232delTGC c.(229-234)gtg>g p.VL77del KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_In_Frame_Del_p.VL87del NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 77 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTACTGGCCGTGCTGCTGCTGCT 0.675 7 275 --- --- --- --- LLGL2 3993 broad.mit.edu 37 17 73569700 73569701 + Frame_Shift_Ins INS - - G rs112393371 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:73569700_73569701insG ENST00000392550.3 + 21 2981_2982 c.2864_2865insG c.(2863-2865)cagfs p.Q955fs LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.Q955fs|LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.Q955fs NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 955 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AAGAAGGCCCCGAGCCGAGCCA 0.668 7 286 --- --- --- --- CBX4 8535 broad.mit.edu 37 17 77808241 77808243 + In_Frame_Del DEL GTG GTG - rs3833850 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:77808241_77808243delGTG ENST00000269397.4 - 5 1375_1377 c.1198_1200delCAC c.(1198-1200)del p.H400del NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 400 His-rich.|Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGCCGACGGCgtggtggtggtgg 0.704 7 112 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:78201649_78201651delTGC ENST00000361193.3 + 7 906_908 c.626_628delTGC c.(625-630)atg>a p.ML209del SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 209 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTGGTCTGCATGCTGCTGCTGCT 0.675 13 1066 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 26 434 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21750331 21750331 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr18:21750331delT ENST00000319481.3 - 24 2584 c.2378delA c.(2377-2379)atfs p.N793fs OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.N280fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.N411fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 793 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TTTCTTATCATTTTTTTTGTA 0.393 14 801 --- --- --- --- WBP11P1 0 broad.mit.edu 37 18 30091782 30091782 + RNA DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr18:30091782delT ENST00000567636.1 + 0 157 NR_003558.1 tttctttttctttttttttAA 0.418 7 251 --- --- --- --- HAUS1 115106 broad.mit.edu 37 18 43685174 43685174 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr18:43685174delA ENST00000282058.6 + 2 125 c.45delA c.(43-45)ttfs p.L15fs HAUS1_ENST00000585518.1_Frame_Shift_Del_p.L15fs NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 15 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 CTGCGTGGTTAAAAAAAATAT 0.393 15 291 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47812275 47812277 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr18:47812275_47812277delCTG ENST00000285106.6 - 5 1195_1197 c.481_483delCAG c.(481-483)del p.Q161del CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 161 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 ACCGTTTGATctgctgctgctgc 0.557 9 322 --- --- --- --- CNN2 1265 broad.mit.edu 37 19 1037646 1037646 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:1037646delC ENST00000263097.4 + 7 1040 c.677delC c.(676-678)acfs p.T226fs CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 226 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCCCGGGACCCGGCGGCAC 0.632 11 1513 --- --- --- --- UBXN6 80700 broad.mit.edu 37 19 4454085 4454085 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:4454085delT ENST00000301281.6 - 2 213 c.89delA c.(88-90)agfs p.K30fs CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 30 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 TTTGTGGGCCTTTTCCCTGGG 0.667 7 1408 --- --- --- --- HDGFRP2 0 broad.mit.edu 37 19 4491824 4491824 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:4491824delA ENST00000301284.4 + 6 734 c.670delA c.(670-672)aafs p.K227fs HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.K227fs NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 227 Ser-rich. transcription, DNA-dependent nucleus DNA binding|protein binding GGGGGGACGGAAAAAAAAGGT 0.632 8 668 --- --- --- --- MLLT1 4298 broad.mit.edu 37 19 6222272 6222274 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:6222272_6222274delAGG ENST00000252674.7 - 6 1131_1133 c.968_970delCCT c.(967-972)ttc>t p.SF323del NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 323 Poly-Ser. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 TTGTCCGAGAAGGAGGAGGAGGA 0.650 T MLL AL 10 391 --- --- --- --- DENND1C 79958 broad.mit.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:6477251delG ENST00000381480.2 - 8 603 c.491delC c.(490-492)ctfs p.P164fs DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 164 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCCCCGGGTAGGGGGGGGGAT 0.672 10 332 --- --- --- --- ECSIT 51295 broad.mit.edu 37 19 11618821 11618821 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:11618821delG ENST00000270517.7 - 5 916 c.781delC c.(781-783)agfs p.Q261fs ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 261 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 ATGTGGGGCTGGGGGGGATCT 0.582 7 1095 --- --- --- --- CYP4F3 4051 broad.mit.edu 37 19 15769322 15769322 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:15769322delT ENST00000221307.7 + 11 1319 c.1271delT c.(1270-1272)gtfs p.V424fs CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000586182.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.V424fs NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 424 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CTCATCAGTGTTTTTGGAACC 0.622 14 2440 --- --- --- --- ZNF43 7594 broad.mit.edu 37 19 21992087 21992087 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:21992087delT ENST00000594012.1 - 7 1248 c.734delA c.(733-735)atfs p.N245fs ZNF43_ENST00000598381.1_Frame_Shift_Del_p.N245fs|ZNF43_ENST00000595461.1_Frame_Shift_Del_p.N245fs|ZNF43_ENST00000354959.4_Frame_Shift_Del_p.N251fs NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TCTAGTATAATTTTTTTTATG 0.348 7 508 --- --- --- --- ZFP36 7538 broad.mit.edu 37 19 39898948 39898950 + In_Frame_Del DEL CAC CAC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:39898948_39898950delCAC ENST00000597629.1 + 2 682_684 c.608_610delCAC c.(607-612)tca>t p.SP203del ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del P26651 TTP_HUMAN ZFP36 ring finger protein 197 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGCCGGACCTCACCACCACCACC 0.685 10 1969 --- --- --- --- C19orf47 126526 broad.mit.edu 37 19 40834399 40834399 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:40834399delG ENST00000582783.1 - 6 483 c.471delC c.(469-471)ccfs p.P157fs C19orf47_ENST00000392035.2_Frame_Shift_Del_p.P90fs NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 157 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) CCGGGCGCCTGGGGGGTGTGC 0.612 7 1898 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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 8 885 --- --- --- --- APOC1 341 broad.mit.edu 37 19 45419665 45419666 + Frame_Shift_Ins INS - - A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:45419665_45419666insA ENST00000592885.1 + 3 328_329 c.277_278insA c.(277-279)aaafs p.K93fs APOC1_ENST00000586638.1_Intron|APOC1_ENST00000588750.1_Intron|APOC1_ENST00000588802.1_Intron|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000252491.4_Intron P02654 APOC1_HUMAN apolipoprotein C-I 0 cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity cervix(1)|large_intestine(1)|lung(2) 4 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) TGAACAGATTGAAAAAAAAACA 0.520 12 145 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47572401 47572403 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:47572401_47572403delCTC ENST00000253048.5 - 14 2381_2383 c.2344_2346delGAG c.(2344-2346)del p.E782del ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 782 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCTCGCTCTCTCCTCCTCCTCC 0.700 7 978 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:47883158_47883160delGGA ENST00000328771.4 + 14 3247_3249 c.2898_2900delGGA c.(2896-2901)ctg>ct p.LE966del NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 966 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCAGCAGCTGGAGGAGGAGGAG 0.660 8 356 --- --- --- --- NUCB1 4924 broad.mit.edu 37 19 49425109 49425111 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:49425109_49425111delAGC ENST00000405315.4 + 12 1533_1535 c.1199_1201delAGC c.(1198-1203)aag>a p.KQ400del NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del|NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 400 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) Gagcagcggaagcagcagcagca 0.640 7 385 --- --- --- --- PTH2 113091 broad.mit.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:49926531_49926533delCAG ENST00000270631.1 - 1 165_167 c.64_66delCTG c.(64-66)del p.L22del NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) AGGGCACCACcagcagcagcagc 0.690 8 252 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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 11 439 --- --- --- --- SIGLEC9 27180 broad.mit.edu 37 19 51628233 51628235 + Translation_Start_Site DEL TGC TGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:51628233_51628235delTGC ENST00000440804.3 + 0 69_71 SIGLEC9_ENST00000250360.3_Start_Codon_Del NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ACCCCAGACATGCTGCTGCTGCT 0.611 9 308 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 17 458 --- --- --- --- EPN1 29924 broad.mit.edu 37 19 56203183 56203184 + Frame_Shift_Ins INS - - G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:56203183_56203184insG ENST00000411543.2 + 7 1631_1632 c.1084_1085insG c.(1084-1086)gggfs p.G362fs EPN1_ENST00000270460.6_Frame_Shift_Ins_p.G276fs|EPN1_ENST00000085079.7_Frame_Shift_Ins_p.G251fs NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 276 8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding p.G364fs*164(1) endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CACAGACCCCTGGGGGGGCCCA 0.688 8 818 --- --- --- --- ZNF416 55659 broad.mit.edu 37 19 58084554 58084554 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:58084554delT ENST00000196489.3 - 4 940 c.718delA c.(718-720)ggfs p.R240fs NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) TCATAAAGCCTTTTTCCAGTG 0.473 9 1514 --- --- --- --- GFRA4 64096 broad.mit.edu 37 20 3644008 3644010 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:3644008_3644010delCAG ENST00000290417.2 - 1 36_38 c.37_39delCTG c.(37-39)del p.L15del GFRA4_ENST00000319242.3_In_Frame_Del_p.L15del NM_022139.3|NM_145762.2 NP_071422.1|NP_665705.1 Q9GZZ7 GFRA4_HUMAN GDNF family receptor alpha 4 15 anchored to membrane|extracellular region|plasma membrane receptor activity large_intestine(1)|lung(2) 3 CACCCAGTAACAGCAGCAGCAGC 0.621 7 180 --- --- --- --- RASSF2 9770 broad.mit.edu 37 20 4776492 4776494 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:4776492_4776494delAGG ENST00000379400.3 - 5 449_451 c.254_256delCCT c.(253-258)tgg>t p.SW85del RASSF2_ENST00000379376.2_In_Frame_Del_p.SW85del NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 85 cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 CCAGAGTGCCAGGAGGAGGAGGA 0.611 7 1047 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:5903283_5903285delGAG ENST00000378961.4 + 4 697_699 c.493_495delGAG c.(493-495)del p.E169del NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 169 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAGAGGATGAGGAGGAGGAGG 0.532 10 350 --- --- --- --- GINS1 9837 broad.mit.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:25422397delA ENST00000262460.4 + 6 601 c.507delA c.(505-507)ttfs p.L169fs GINS1_ENST00000429262.2_3'UTR NM_021067.3 NP_066545.3 Q14691 PSF1_HUMAN GINS complex subunit 1 (Psf1 homolog) 169 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm p.N172fs*14(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 CAGTCCTATTAAAAAAAAATA 0.299 19 633 --- --- --- --- NCOR1P1 0 broad.mit.edu 37 20 26084428 26084428 + RNA DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:26084428delC ENST00000478176.1 - 0 150 NR_003678.1 TCTAATGAAACCTTTAGTAGT 0.313 7 76 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 12 366 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 15 898 --- --- --- --- CHD6 0 broad.mit.edu 37 20 40033403 40033405 + In_Frame_Del DEL TCT TCT - rs146425509 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:40033403_40033405delTCT ENST00000373233.3 - 37 8153_8155 c.7976_7978delAGA c.(7975-7980)aca>a p.KT2659del CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2659 Poly-Lys. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TCCCCCTTTGTCTTCTTCTTCTT 0.586 11 932 --- --- --- --- SALL4 57167 broad.mit.edu 37 20 50408346 50408348 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:50408346_50408348delGCT ENST00000217086.4 - 2 785_787 c.674_676delAGC c.(673-678)cta>c p.QL225del SALL4_ENST00000395997.3_In_Frame_Del_p.QL225del|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 225 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATCTGCTGTAGCTGCTGCTGCTG 0.645 8 750 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:58467047delT ENST00000357552.3 - 24 2587 c.2362delA c.(2362-2364)tgfs p.M788fs SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 788 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding p.M788fs*1(1) NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AAGCTCACCATTTTTTTTTGT 0.323 10 323 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58490593 58490593 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:58490593delT ENST00000357552.3 - 9 751 c.526delA c.(526-528)tgfs p.M176fs SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M176fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 176 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ATAGCATTCATTTTTTTTATA 0.289 9 806 --- --- --- --- RTEL1 51750 broad.mit.edu 37 20 62292822 62292824 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:62292822_62292824delGCT ENST00000318100.4 + 3 1101_1103 c.274_276delGCT c.(274-276)del p.A96del RTEL1_ENST00000370018.3_In_Frame_Del_p.A96del|RTEL1_ENST00000360203.5_In_Frame_Del_p.A96del|RTEL1_ENST00000508582.2_In_Frame_Del_p.A96del|RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.A96del Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 96 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CTGGGGCAACGCTGCTGCTGCTG 0.645 10 293 --- --- --- --- MYT1 4661 broad.mit.edu 37 20 62839333 62839335 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:62839333_62839335delGAG ENST00000536311.1 + 7 1148_1150 c.784_786delGAG c.(784-786)del p.E273del MYT1_ENST00000328439.1_In_Frame_Del_p.E273del|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 273 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) agaggaggacgaggaggaggagg 0.596 9 143 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15441192 15441193 + RNA INS - - T rs148464975 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr21:15441192_15441193insT ENST00000428809.1 + 0 177 TGTATTTTGAATTCTTGGAATT 0.361 8 581 --- --- --- --- APP 351 broad.mit.edu 37 21 27394182 27394184 + In_Frame_Del DEL GTG GTG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr21:27394182_27394184delGTG ENST00000358918.3 - 6 1036_1038 c.837_839delCAC c.(835-840)aca>ac p.TT279del APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000474136.1_5'UTR|APP_ENST00000346798.3_In_Frame_Del_p.TT279del NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 279 Poly-Thr. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) CACAGACTCTgtggtggtggtgg 0.522 7 333 --- --- --- --- SCAF4 57466 broad.mit.edu 37 21 33043971 33043972 + Frame_Shift_Del DEL TC TC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr21:33043971_33043972delTC ENST00000286835.7 - 20 3566_3567 c.3184_3185delGA c.(3184-3186)tfs p.D1062fs SCAF4_ENST00000434667.3_Frame_Shift_Del_p.D1047fs|SCAF4_ENST00000399804.1_Frame_Shift_Del_p.D1040fs NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 1062 nucleus nucleotide binding|RNA binding p.D1062Y(1) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 ATCTCTAGAATCTCTCTCTCTG 0.525 7 1097 --- --- --- --- TCP10L 140290 broad.mit.edu 37 21 33949091 33949091 + Frame_Shift_Del DEL C C - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr21:33949091delC ENST00000300258.3 - 5 754 c.641delG c.(640-642)gtfs p.G214fs TCP10L_ENST00000491828.1_5'UTR NM_144659.5 NP_653260.1 t-complex 10-like breast(1)|central_nervous_system(1)|liver(1)|skin(1) 4 TCTTCAGACACCCCCCCGTCT 0.478 9 936 --- --- --- --- DYRK1A 1859 broad.mit.edu 37 21 38884370 38884372 + In_Frame_Del DEL CAC CAC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr21:38884370_38884372delCAC ENST00000339659.3 + 11 3271_3273 c.1801_1803delCAC c.(1801-1803)del p.H610del DYRK1A_ENST00000398960.2_In_Frame_Del_p.H619del|DYRK1A_ENST00000455387.2_In_Frame_Del_p.H391del|DYRK1A_ENST00000338785.3_3'UTR NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 619 Poly-His. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ccatcaccatcaccaccaccacc 0.498 7 396 --- --- --- --- ZBTB21 49854 broad.mit.edu 37 21 43412316 43412317 + Frame_Shift_Del DEL TC TC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr21:43412316_43412317delTC ENST00000310826.5 - 3 2071_2072 c.1888_1889delGA c.(1888-1890)afs p.E630fs ZBTB21_ENST00000398499.1_Frame_Shift_Del_p.E630fs|ZBTB21_ENST00000398511.3_Frame_Shift_Del_p.E630fs|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 CTTCTTAATTTCTCTCTCTCTC 0.455 9 698 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000397887.3_Intron NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 22 602 --- --- --- --- MCM3AP 8888 broad.mit.edu 37 21 47663397 47663397 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr21:47663397delG ENST00000397708.1 - 25 5532 c.5278delC c.(5278-5280)ggfs p.R1760fs MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.R1760fs|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1760 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) ACAGGAAGCCGGGGGGGCGTC 0.527 9 1210 --- --- --- --- HIRA 7290 broad.mit.edu 37 22 19373136 19373138 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:19373136_19373138delGCT ENST00000263208.5 - 12 1491_1493 c.1235_1237delAGC c.(1234-1239)ctg>c p.QL412del HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del|HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del|HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 412 Poly-Gln. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) TTCTGGTCCAGCTGCTGCTGCTG 0.581 10 511 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:20918916_20918918delCAG ENST00000263205.7 + 6 700_702 c.631_633delCAG c.(631-633)del p.Q218del MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 218 Poly-Gln. Missing (in Ref. 4; CAG30423). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagctccagcagcagcagc 0.567 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 200 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661173 22661174 + RNA INS - - C rs7410785 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:22661173_22661174insC ENST00000426066.1 + 0 265_266 NR_027293.1 ATACAGGTTTTCCCCCCCCACC 0.406 7 265 --- --- --- --- TFIP11 24144 broad.mit.edu 37 22 26906183 26906185 + In_Frame_Del DEL TCA TCA - rs145794160 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:26906183_26906185delTCA ENST00000407690.1 - 4 337_339 c.54_56delTGA c.(52-57)gac>ga p.DD18del TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 18 Poly-Asp. biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 CTCCCGCTCGTCATCATCATCAT 0.532 8 746 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 27 994 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 25 1132 --- --- --- --- MKL1 57591 broad.mit.edu 37 22 40816887 40816889 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:40816887_40816889delTGC ENST00000396617.3 - 10 1433_1435 c.843_845delGCA c.(841-846)cac>ca p.QH281del MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del|MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 281 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GTAGTTGTGGTGCTGCTGCTGCT 0.660 T RBM15 acute megakaryocytic leukemia 10 404 --- --- --- --- SMDT1 91689 broad.mit.edu 37 22 42478046 42478048 + In_Frame_Del DEL GAT GAT - rs141840500 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:42478046_42478048delGAT ENST00000331479.3 + 2 378_380 c.304_306delGAT c.(304-306)del p.D107del SMDT1_ENST00000547929.1_Intron NM_033318.4 NP_201575.3 single-pass membrane protein with aspartate-rich tail 1 TGTTCCAGAGGATGATGATGATG 0.478 14 881 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 22 760 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 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 TGAGTCAACATTTTTTTTGCC 0.363 21 1389 --- --- --- --- SCUBE1 80274 broad.mit.edu 37 22 43619184 43619184 + Frame_Shift_Del DEL G G - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:43619184delG ENST00000360835.3 - 11 1372 c.1246delC c.(1246-1248)ggfs p.R416fs NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 416 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) AGCTGGGCCCGGGGGGAGGTC 0.647 7 1470 --- --- --- --- ASMT 438 broad.mit.edu 37 X 1752103 1752103 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:1752103delT ENST00000381241.3 + 7 906 c.707delT c.(706-708)gtfs p.V236fs ASMT_ENST00000381229.4_Frame_Shift_Del_p.V208fs|ASMT_ENST00000381233.3_Intron|RP13-297E16.3_ENST00000509780.1_RNA NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 208 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AAGATCACCGTTTTTGACATC 0.532 7 2061 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 17 642 --- --- --- --- KLHL34 257240 broad.mit.edu 37 X 21674920 21674922 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:21674920_21674922delCTC ENST00000379499.2 - 1 1526_1528 c.985_987delGAG c.(985-987)del p.E329del NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 329 Glu-rich. cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 TGAGCTCCCActcctcctcctcc 0.650 8 146 --- --- --- --- DMD 1756 broad.mit.edu 37 X 32361293 32361293 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:32361293delT ENST00000357033.4 - 40 5903 c.5697delA c.(5695-5697)aafs p.K1899fs DMD_ENST00000378677.2_Frame_Shift_Del_p.K1895fs NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1899 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGCTGGCTAATTTTTTTTCAA 0.358 9 1103 --- --- --- --- HUWE1 10075 broad.mit.edu 37 X 53589091 53589093 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:53589091_53589093delTCC ENST00000342160.3 - 53 7774_7776 c.7317_7319delGGA c.(7315-7320)gaa>ga p.EE2439del HUWE1_ENST00000262854.6_In_Frame_Del_p.EE2439del Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2439 Asp-rich.|Glu-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ttcctcatcttcctcctcctcct 0.532 9 431 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360589 70360591 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:70360589_70360591delAGC ENST00000333646.6 + 42 6357_6359 c.6158_6160delAGC c.(6157-6162)gag>g p.EQ2053del MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_In_Frame_Del_p.EQ2050del|MED12_ENST00000374102.1_In_Frame_Del_p.EQ2049del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2050 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) ATCCTACCTGagcagcagcagca 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 8 833 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360624 70360626 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:70360624_70360626delCAG ENST00000333646.6 + 42 6392_6394 c.6193_6195delCAG c.(6193-6195)del p.Q2079del MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2076 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) gcaacagcaacagcagcagcagc 0.596 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 8 497 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 22 319 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73046080 73046080 + RNA DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:73046080delT ENST00000604411.1 + 0 34041 XIST_ENST00000429829.1_lincRNA NR_003255.2 AGCCTGGCACTTTTTTTTCCC 0.423 11 1037 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76778785 76778787 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:76778785_76778787delTCT ENST00000373344.5 - 31 7006_7008 c.6792_6794delAGA c.(6790-6795)gag>ga p.EE2264del ATRX_ENST00000395603.3_In_Frame_Del_p.EE2226del|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2264 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 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) TTCAGTCAACTCTTCTTCTTCTT 0.369 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 17 1674 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:76907782_76907784delTCC ENST00000373344.5 - 15 4591_4593 c.4377_4379delGGA c.(4375-4380)gaa>ga p.EE1463del ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR 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 18 764 --- --- --- --- NAP1L3 4675 broad.mit.edu 37 X 92928153 92928155 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:92928153_92928155delTGC ENST00000373079.3 - 1 412_414 c.149_151delGCA c.(148-153)act>a p.ST50del NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 50 Ser-rich. nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 ctgccactagtgctgctgctgct 0.586 13 239 --- --- --- --- TRMT2B 79979 broad.mit.edu 37 X 100276191 100276191 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:100276191delA ENST00000338687.7 - 9 1635 c.830delT c.(829-831)tcfs p.F277fs TRMT2B_ENST00000372931.5_Frame_Shift_Del_p.F322fs|TRMT2B_ENST00000372935.1_Frame_Shift_Del_p.F322fs|TRMT2B_ENST00000372936.3_Frame_Shift_Del_p.F322fs|TRMT2B_ENST00000372939.1_Frame_Shift_Del_p.F277fs|TRMT2B_ENST00000545398.1_Frame_Shift_Del_p.F322fs Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 322 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 GTTAATCTGGAAAAAGGCATC 0.498 7 746 --- --- --- --- RPL36A 6173 broad.mit.edu 37 X 100646805 100646805 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:100646805delA ENST00000427805.2 + 3 392 c.280delA c.(280-282)aafs p.K95fs RPL36A-HNRNPH2_ENST00000409170.3_Frame_Shift_Del_p.G68fs|RPL36A_ENST00000471855.1_5'UTR|RPL36A_ENST00000553110.3_Frame_Shift_Del_p.K59fs NM_021029.5 NP_066357.2 ribosomal protein L36a liver(4)|lung(1)|prostate(1) 6 GATTTTCCGGAAAAAGGTGAG 0.418 9 1152 --- --- --- --- COL4A5 1287 broad.mit.edu 37 X 107842050 107842050 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:107842050delA ENST00000328300.6 + 25 2142 c.1898delA c.(1897-1899)gafs p.E633fs COL4A5_ENST00000361603.2_Frame_Shift_Del_p.E633fs NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 633 Triple-helical region. E -> K (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCAGTAGGTGAAAAAGGCATA 0.507 Alport syndrome with Diffuse Leiomyomatosis 7 872 --- --- --- --- TENM1 10178 broad.mit.edu 37 X 123838977 123838977 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:123838977delA ENST00000422452.2 - 5 964 c.901delT c.(901-903)ccfs p.S301fs TENM1_ENST00000371130.3_Frame_Shift_Del_p.S301fs NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GCAGGTCGGGAAAAGGTGCTT 0.527 7 1816 --- --- --- --- ARHGAP36 158763 broad.mit.edu 37 X 130215725 130215725 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:130215725delT ENST00000276211.5 + 2 431 c.86delT c.(85-87)atfs p.I29fs ARHGAP36_ENST00000370922.1_Intron NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 29 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TCCGCCTTCATTTTTTTAGTG 0.542 8 1960 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 16 835 --- --- --- --- SPANXN2 494119 broad.mit.edu 37 X 142803692 142803692 + Frame_Shift_Del DEL T T - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:142803692delT ENST00000370498.1 - 1 824 c.71delA c.(70-72)atfs p.N24fs NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 24 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.443 23 1471 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 16 1557 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 20 268 --- --- --- --- RPL10 6134 broad.mit.edu 37 X 153627860 153627860 + Frame_Shift_Del DEL A A - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 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) 9 1593 --- --- --- --- IL9R 3581 broad.mit.edu 37 X 155239799 155239801 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:155239799_155239801delAGC ENST00000424344.3 + 10 1595_1597 c.1228_1230delAGC c.(1228-1230)del p.S417del IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_In_Frame_Del_p.S438del Q01113 IL9R_HUMAN interleukin 9 receptor 438 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GGgcagcaggagcagcagcagca 0.621 7 216 --- --- --- ---